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HUMAN:SMAD4

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) SMAD4 (synonyms: DPC4, MADH4)
Protein Name(s) Mothers against decapentaplegic homolog 4

MAD homolog 4 Mothers against DPP homolog 4 Deletion target in pancreatic carcinoma 4 SMAD family member 4 SMAD 4 Smad4 hSMAD4

External Links
UniProt Q13485
EMBL AF045447
AF045438
AF045439
AF045440
AF045441
AF045442
AF045443
AF045444
AF045445
AF045446
U44378
AK290770
CH471096
BC002379
CCDS CCDS11950.1
PIR S71811
RefSeq NP_005350.1
UniGene Hs.75862
PDB 1DD1
1G88
1MR1
1U7F
1U7V
1YGS
PDBsum 1DD1
1G88
1MR1
1U7F
1U7V
1YGS
DisProt DP00464
ProteinModelPortal Q13485
SMR Q13485
BioGrid 110264
DIP DIP-31512N
IntAct Q13485
MINT MINT-244037
STRING 9606.ENSP00000341551
PhosphoSite Q13485
BioMuta SMAD4
DMDM 13959561
MaxQB Q13485
PaxDb Q13485
PeptideAtlas Q13485
PRIDE Q13485
DNASU 4089
Ensembl ENST00000342988
ENST00000398417
GeneID 4089
KEGG hsa:4089
UCSC uc002lfb.4
CTD 4089
GeneCards GC18P048494
GeneReviews SMAD4
HGNC HGNC:6770
HPA CAB002312
HPA019154
MIM 114500
139210
174900
175050
260350
600993
neXtProt NX_Q13485
Orphanet 1333
329971
774
2588
PharmGKB PA30527
eggNOG NOG286923
GeneTree ENSGT00760000119091
HOGENOM HOG000286019
HOVERGEN HBG053353
InParanoid Q13485
KO K04501
OMA PTEGHSI
OrthoDB EOG712TW5
PhylomeDB Q13485
TreeFam TF314923
Reactome REACT_111057
REACT_12034
REACT_120734
REACT_120850
REACT_121111
REACT_150238
REACT_169107
REACT_169165
REACT_263856
SignaLink Q13485
ChiTaRS SMAD4
EvolutionaryTrace Q13485
GeneWiki Mothers_against_decapentaplegic_homolog_4
GenomeRNAi 4089
NextBio 16030
PRO PR:Q13485
Proteomes UP000005640
Bgee Q13485
CleanEx HS_SMAD4
ExpressionAtlas Q13485
Genevisible Q13485
GO GO:0032444
GO:0005813
GO:0005737
GO:0005829
GO:0000790
GO:0005654
GO:0005634
GO:0071141
GO:0005667
GO:0003682
GO:0000987
GO:0070411
GO:0042802
GO:0046872
GO:0042803
GO:0070412
GO:0000978
GO:0001077
GO:0001076
GO:0044212
GO:0030616
GO:0036302
GO:0003190
GO:0007411
GO:0030509
GO:0003360
GO:0001658
GO:0003279
GO:0008283
GO:0048589
GO:0042733
GO:0060956
GO:0007492
GO:0042118
GO:0003198
GO:0048859
GO:0001702
GO:0010467
GO:0001701
GO:0035556
GO:0007498
GO:0072133
GO:0060548
GO:0030308
GO:0008285
GO:0042177
GO:0000122
GO:0045892
GO:0072134
GO:0014033
GO:0048663
GO:0060021
GO:0030513
GO:0003251
GO:0010718
GO:0010862
GO:0060391
GO:0045944
GO:0045893
GO:0030511
GO:0051098
GO:0051797
GO:0017015
GO:0032909
GO:0001666
GO:0071559
GO:0048733
GO:0007183
GO:0060395
GO:0035019
GO:0032525
GO:0006367
GO:0006351
GO:0007179
Gene3D 2.60.200.10
3.90.520.10
InterPro IPR013790
IPR003619
IPR013019
IPR017855
IPR001132
IPR008984
PANTHER PTHR13703
Pfam PF03165
PF03166
SMART SM00523
SM00524
SUPFAM SSF49879
SSF56366
PROSITE PS51075
PS51076

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0035556

intracellular signal transduction

PMID:22316667[1]

ECO:0000315

P

SMAD4 Mutations result in in disruption of BMP signaling. Using samples obtained from human JP samples, followed by PCR & SDM, mutants activity (as assayed by Luciferase, see Figure 1) was much lower then WT, confirming the hypothesis of mutated SMAD signaling being a key component of JP patients.

complete
CACAO 3767

involved_in

GO:0007179

transforming growth factor beta receptor signaling pathway

PMID:25514493[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0000981

DNA-binding transcription factor activity, RNA polymerase II-specific

PMID:19274049[3]

ECO:0000303

author statement without traceable support used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0000981

DNA-binding transcription factor activity, RNA polymerase II-specific

PMID:19274049[3]

ECO:0000255

match to sequence model evidence used in manual assertion

InterPro:IPR001132
InterPro:IPR003619
InterPro:IPR013019
InterPro:IPR013790

F

Seeded From UniProt

complete

involved_in

GO:0060956

endocardial cell differentiation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0036302

atrioventricular canal development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0003251

positive regulation of cell proliferation involved in heart valve morphogenesis

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0003190

atrioventricular valve formation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

enables

GO:0000981

DNA-binding transcription factor activity, RNA polymerase II-specific

GO_REF:0000113

ECO:0005556

multiple sequence alignment evidence used in manual assertion

UniProtKB:P97454

F

Seeded From UniProt

complete

involved_in

GO:1905305

negative regulation of cardiac myofibril assembly

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:10647180[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0043199

sulfate binding

PMID:10647180[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0071141

SMAD protein complex

PMID:10647180[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0070207

protein homotrimerization

PMID:10647180[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0000122

negative regulation of transcription by RNA polymerase II

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0060412

ventricular septum morphogenesis

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0010614

negative regulation of cardiac muscle hypertrophy

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0070373

negative regulation of ERK1 and ERK2 cascade

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0003148

outflow tract septum morphogenesis

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0003220

left ventricular cardiac muscle tissue morphogenesis

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0006879

cellular iron ion homeostasis

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0071773

cellular response to BMP stimulus

PMID:14687659[5]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030509

BMP signaling pathway

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

occurs_in:(CL:0000182)

Seeded From UniProt

complete

involved_in

GO:0000122

negative regulation of transcription by RNA polymerase II

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:2000617

positive regulation of histone H3-K9 acetylation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0070102

interleukin-6-mediated signaling pathway

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0051571

positive regulation of histone H3-K4 methylation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0007179

transforming growth factor beta receptor signaling pathway

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

occurs_in:(CL:0000182)

Seeded From UniProt

complete

involved_in

GO:0000122

negative regulation of transcription by RNA polymerase II

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:16007207[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0001228

DNA-binding transcription activator activity, RNA polymerase II-specific

PMID:9389648[7]

ECO:0000314

direct assay evidence used in manual assertion

F

occurs_at:(SO:0001952)

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:9389648[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0000978

RNA polymerase II proximal promoter sequence-specific DNA binding

PMID:9389648[7]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0035556

intracellular signal transduction

PMID:22316667[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0070412

R-SMAD binding

PMID:9732876[8]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P84022

F

Seeded From UniProt

complete

enables

GO:0070412

R-SMAD binding

PMID:9111321[9]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q15797

F

Seeded From UniProt

complete

enables

GO:0070412

R-SMAD binding

PMID:9111321[9]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q15796

F

Seeded From UniProt

complete

enables

GO:0070412

R-SMAD binding

PMID:9111321[9]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P84022

F

Seeded From UniProt

complete

enables

GO:0070412

R-SMAD binding

PMID:9311995[10]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q15796

F

Seeded From UniProt

complete

enables

GO:0070412

R-SMAD binding

PMID:9311995[10]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P84022

F

Seeded From UniProt

complete

enables

GO:0070412

R-SMAD binding

PMID:8774881[11]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P84022

F

Seeded From UniProt

complete

enables

GO:0070411

I-SMAD binding

PMID:9256479[12]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:O43541

F

Seeded From UniProt

complete

involved_in

GO:0060395

SMAD protein signal transduction

PMID:9707553[13]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060395

SMAD protein signal transduction

PMID:9732876[8]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060391

positive regulation of SMAD protein signal transduction

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0062009

secondary palate development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:9732876[8]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:9389648[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:9311995[10]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:8774881[11]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045892

negative regulation of transcription, DNA-templated

PMID:8774881[11]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0044212

transcription regulatory region DNA binding

PMID:17438144[14]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

contributes_to

GO:0043565

sequence-specific DNA binding

PMID:10823886[15]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0042803

protein homodimerization activity

PMID:8774881[11]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q13485

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:9111321[9]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q13485

F

Seeded From UniProt

complete

involved_in

GO:0032909

regulation of transforming growth factor beta2 production

PMID:12411310[16]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0032444

activin responsive factor complex

PMID:9389648[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0030616

transforming growth factor beta receptor, common-partner cytoplasmic mediator activity

PMID:9389648[7]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0030513

positive regulation of BMP signaling pathway

PMID:19366699[17]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

PMID:19328798[18]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030509

BMP signaling pathway

PMID:9389648[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030308

negative regulation of cell growth

PMID:8774881[11]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0017015

regulation of transforming growth factor beta receptor signaling pathway

PMID:8774881[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0010718

positive regulation of epithelial to mesenchymal transition

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P97471

P

Seeded From UniProt

complete

involved_in

GO:0007183

SMAD protein complex assembly

PMID:10823886[15]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007179

transforming growth factor beta receptor signaling pathway

PMID:9732876[8]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007179

transforming growth factor beta receptor signaling pathway

PMID:9389648[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:9389648[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:9311995[10]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:12161428[19]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005667

transcription factor complex

PMID:17438144[14]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:9389648[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:9311995[10]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:12161428[19]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

contributes_to

GO:0003700

DNA-binding transcription factor activity

PMID:17438144[14]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

contributes_to

GO:0003700

DNA-binding transcription factor activity

PMID:10823886[15]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

contributes_to

GO:0003677

DNA binding

PMID:9389648[7]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0001666

response to hypoxia

PMID:12411310[16]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0000790

nuclear chromatin

PMID:21828274[20]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(UBERON:0000925)|part_of:(CL:0002322)

Seeded From UniProt

complete

involved_in

GO:0071559

response to transforming growth factor beta

PMID:9707553[13]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0071141

SMAD protein complex

PMID:18832382[21]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:18832382[21]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:9707553[13]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005667

transcription factor complex

PMID:12374795[22]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q8JIT7

C

Seeded From UniProt

complete

part_of

GO:0005667

transcription factor complex

PMID:12374795[22]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P70056

C

Seeded From UniProt

complete

enables

GO:0003712

transcription coregulator activity

PMID:18832382[21]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0000987

proximal promoter sequence-specific DNA binding

PMID:18832382[21]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:25609649[23]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q13485

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:21988832[24]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q13485

F

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005813

centrosome

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:2000617

positive regulation of histone H3-K9 acetylation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:1905305

negative regulation of cardiac myofibril assembly

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

part_of

GO:0090575

RNA polymerase II transcription factor complex

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

C

Seeded From UniProt

complete

involved_in

GO:0072520

seminiferous tubule development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0072134

nephrogenic mesenchyme morphogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0072133

metanephric mesenchyme morphogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0070373

negative regulation of ERK1 and ERK2 cascade

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0070102

interleukin-6-mediated signaling pathway

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0062009

secondary palate development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0061614

pri-miRNA transcription by RNA polymerase II

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0061040

female gonad morphogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0060956

endocardial cell differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0060548

negative regulation of cell death

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0060412

ventricular septum morphogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0060391

positive regulation of SMAD protein signal transduction

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0060065

uterus development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0051797

regulation of hair follicle development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0051571

positive regulation of histone H3-K4 methylation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0051098

regulation of binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0048859

formation of anatomical boundary

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0048733

sebaceous gland development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0048729

tissue morphogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0048663

neuron fate commitment

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0048589

developmental growth

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

enables

GO:0046982

protein heterodimerization activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

F

Seeded From UniProt

complete

involved_in

GO:0046881

positive regulation of follicle-stimulating hormone secretion

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

enables

GO:0042803

protein homodimerization activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

F

Seeded From UniProt

complete

involved_in

GO:0042733

embryonic digit morphogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0042127

regulation of cell population proliferation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0042118

endothelial cell activation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0036302

atrioventricular canal development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0033686

positive regulation of luteinizing hormone secretion

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0032525

somite rostral/caudal axis specification

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0030509

BMP signaling pathway

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0014033

neural crest cell differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0010718

positive regulation of epithelial to mesenchymal transition

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0010614

negative regulation of cardiac muscle hypertrophy

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0009952

anterior/posterior pattern specification

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0008585

female gonad development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0008584

male gonad development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0008285

negative regulation of cell population proliferation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0008283

cell population proliferation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0007498

mesoderm development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0007492

endoderm development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0007411

axon guidance

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0007369

gastrulation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0007338

single fertilization

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0007283

spermatogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0007179

transforming growth factor beta receptor signaling pathway

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0006879

cellular iron ion homeostasis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0006357

regulation of transcription by RNA polymerase II

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

C

Seeded From UniProt

complete

part_of

GO:0005667

transcription factor complex

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

C

Seeded From UniProt

complete

enables

GO:0005518

collagen binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

F

Seeded From UniProt

complete

enables

GO:0003700

DNA-binding transcription factor activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

F

Seeded From UniProt

complete

enables

GO:0003682

chromatin binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

F

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

F

Seeded From UniProt

complete

involved_in

GO:0003360

brainstem development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0003279

cardiac septum development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0003251

positive regulation of cell proliferation involved in heart valve morphogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0003220

left ventricular cardiac muscle tissue morphogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0003198

epithelial to mesenchymal transition involved in endocardial cushion formation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0003190

atrioventricular valve formation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0003148

outflow tract septum morphogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0001822

kidney development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0001702

gastrulation with mouth forming second

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0001701

in utero embryonic development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0001658

branching involved in ureteric bud morphogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

involved_in

GO:0001541

ovarian follicle development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

enables

GO:0001228

DNA-binding transcription activator activity, RNA polymerase II-specific

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

F

Seeded From UniProt

complete

enables

GO:0001085

RNA polymerase II transcription factor binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

F

Seeded From UniProt

complete

enables

GO:0000977

RNA polymerase II regulatory region sequence-specific DNA binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

F

Seeded From UniProt

complete

involved_in

GO:0000122

negative regulation of transcription by RNA polymerase II

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P97471
ensembl:ENSMUSP00000025393

P

Seeded From UniProt

complete

enables

GO:0003700

DNA-binding transcription factor activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR013019

F

Seeded From UniProt

complete

part_of

GO:0005667

transcription factor complex

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR013019

C

Seeded From UniProt

complete

involved_in

GO:0006355

regulation of transcription, DNA-templated

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001132
InterPro:IPR003619
InterPro:IPR013019
InterPro:IPR013790

P

Seeded From UniProt

complete

involved_in

GO:0007179

transforming growth factor beta receptor signaling pathway

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR013019
InterPro:IPR036578

P

Seeded From UniProt

complete

involved_in

GO:1901522

positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus

PMID:14687659[5]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

part_of:(GO:0071773)

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

Reactome:R-HSA-2173796

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0035019

somatic stem cell population maintenance

Reactome:R-HSA-452723

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030509

BMP signaling pathway

Reactome:R-HSA-201451

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0016579

protein deubiquitination

Reactome:R-HSA-5688426

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007179

transforming growth factor beta receptor signaling pathway

Reactome:R-HSA-2173789

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

Reactome:R-HSA-870479
Reactome:R-HSA-870477
Reactome:R-HSA-870437
Reactome:R-HSA-3315483
Reactome:R-HSA-3311014
Reactome:R-HSA-2106579
Reactome:R-HSA-2031355
Reactome:R-HSA-201472
Reactome:R-HSA-201422
Reactome:R-HSA-173488
Reactome:R-HSA-170847

ECO:0000304

author statement supported by traceable reference used in manual assertion











C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-NUL-9625758
Reactome:R-NUL-2186755
Reactome:R-NUL-2186736
Reactome:R-HSA-9618021
Reactome:R-HSA-9618004
Reactome:R-HSA-9617996
Reactome:R-HSA-8952226
Reactome:R-HSA-8878178
Reactome:R-HSA-8878143
Reactome:R-HSA-8878013
Reactome:R-HSA-8877941
Reactome:R-HSA-870538
Reactome:R-HSA-870477
Reactome:R-HSA-870449
Reactome:R-HSA-480204
Reactome:R-HSA-2187388
Reactome:R-HSA-2187330
Reactome:R-HSA-2187325
Reactome:R-HSA-2187309
Reactome:R-HSA-2186643
Reactome:R-HSA-2186607
Reactome:R-HSA-2179276
Reactome:R-HSA-2179274
Reactome:R-HSA-2176503
Reactome:R-HSA-2176502
Reactome:R-HSA-2176491
Reactome:R-HSA-2176475
Reactome:R-HSA-2127257
Reactome:R-HSA-2106579
Reactome:R-HSA-209055
Reactome:R-HSA-201472
Reactome:R-HSA-201425
Reactome:R-HSA-201423
Reactome:R-HSA-173545
Reactome:R-HSA-173488
Reactome:R-HSA-173481
Reactome:R-HSA-1535903
Reactome:R-HSA-1225919
Reactome:R-HSA-1112609

ECO:0000304

author statement supported by traceable reference used in manual assertion







































C

Seeded From UniProt

complete

involved_in

GO:0000122

negative regulation of transcription by RNA polymerase II

Reactome:R-HSA-2173795

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963
UniProtKB-SubCell:SL-0086

C

Seeded From UniProt

complete

enables

GO:0046872

metal ion binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0479

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 Carr, JC et al. (2012) Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. J. Surg. Res. 174 211-4 PubMed GONUTS page
  2. Yang, Y et al. (2015) Pokemon (FBI-1) interacts with Smad4 to repress TGF-β-induced transcriptional responses. Biochim. Biophys. Acta 1849 270-81 PubMed GONUTS page
  3. 3.0 3.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page
  4. 4.0 4.1 4.2 4.3 Qin, B et al. (1999) Crystal structure of a transcriptionally active Smad4 fragment. Structure 7 1493-503 PubMed GONUTS page
  5. 5.0 5.1 Nohe, A et al. (2004) Signal transduction of bone morphogenetic protein receptors. Cell. Signal. 16 291-9 PubMed GONUTS page
  6. Pavio, N et al. (2005) Hepatitis C virus core variants isolated from liver tumor but not from adjacent non-tumor tissue interact with Smad3 and inhibit the TGF-beta pathway. Oncogene 24 6119-32 PubMed GONUTS page
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