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HUMAN:SMAD4

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

public

GO:0035556

intracellular signal transduction

PMID:22316667

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

protected

involved_in

GO:0007179

transforming growth factor beta receptor signaling pathway

PMID:25514493

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

protected

enables

GO:0000981

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

PMID:19274049

ECO:0000303

author statement without traceable support used in manual assertion

F

Seeded From UniProt

complete

protected

enables

GO:0000981

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

PMID:19274049

ECO:0000255

match to sequence model evidence used in manual assertion

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

F

Seeded From UniProt

complete

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

enables

GO:0042802

identical protein binding

PMID:10647180

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

protected

enables

GO:0043199

sulfate binding

PMID:10647180

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

protected

part_of

GO:0071141

SMAD protein complex

PMID:10647180

ECO:0000315

mutant phenotype evidence used in manual assertion

C

Seeded From UniProt

complete

protected

involved_in

GO:0070207

protein homotrimerization

PMID:10647180

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

protected

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

  • occurs_in:(UBERON:0001133)
  • has_regulation_target:(UniProtKB:P12883)|occurs_in(UBERON:0001133)
  • has_regulation_target:(UniProtKB:P01160)|occurs_in(UBERON:0001133)
  • has_regulation_target:(UniProtKB:P16860)

Seeded From UniProt

complete

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

  • has_regulation_target:(UniProtKB:P81172)
  • occurs_in:(UBERON:0002107)|has_regulation_target(UniProtKB:P81172)
  • part_of:(GO:0070102)|has_regulation_target(UniProtKB:P81172)
  • part_of:(GO:0030509)
  • occurs_in:(CL:0000182)|has_regulation_target(UniProtKB:P81172)
  • part_of:(GO:0007179)
  • occurs_in:(CL:0000182)

Seeded From UniProt

complete

protected

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

protected

involved_in

GO:0071773

cellular response to BMP stimulus

PMID:14687659

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

protected

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

protected

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

  • has_regulation_target:(UniProtKB:Q9NP59)
  • occurs_in:(UBERON:0002114)|has_regulation_target(UniProtKB:P49281)
  • occurs_in:(UBERON:0002114)|has_regulation_target(UniProtKB:Q53TN4)
  • occurs_in:(UBERON:0002114)

Seeded From UniProt

complete

protected

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

protected

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

protected

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

protected

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

  • occurs_in:(UBERON:0002107)
  • has_regulation_target:(UniProtKB:O15105)|occurs_in(UBERON:0002107)
  • has_regulation_target:(UniProtKB:P81172)|occurs_in(UBERON:0002107)
  • has_regulation_target:(UniProtKB:P41134)|occurs_in(UBERON:0002107)
  • has_regulation_target:(UniProtKB:Q96SQ7)

Seeded From UniProt

complete

protected

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

protected

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

  • occurs_in:(UBERON:0002107)
  • has_regulation_target:(UniProtKB:P22004)

Seeded From UniProt

complete

protected

part_of

GO:0005634

nucleus

PMID:16007207

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

enables

GO:0001228

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

PMID:9389648

ECO:0000314

direct assay evidence used in manual assertion

F

occurs_at:(SO:0001952)

Seeded From UniProt

complete

protected

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:9389648

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

enables

GO:0000978

RNA polymerase II proximal promoter sequence-specific DNA binding

PMID:9389648

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

protected

involved_in

GO:0035556

intracellular signal transduction

PMID:22316667

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

protected

enables

GO:0070412

R-SMAD binding

PMID:9732876

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P84022

F

Seeded From UniProt

complete

protected

enables

GO:0070412

R-SMAD binding

PMID:9111321

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q15797

F

Seeded From UniProt

complete

protected

enables

GO:0070412

R-SMAD binding

PMID:9111321

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q15796

F

Seeded From UniProt

complete

protected

enables

GO:0070412

R-SMAD binding

PMID:9111321

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P84022

F

Seeded From UniProt

complete

protected

enables

GO:0070412

R-SMAD binding

PMID:9311995

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q15796

F

Seeded From UniProt

complete

protected

enables

GO:0070412

R-SMAD binding

PMID:9311995

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P84022

F

Seeded From UniProt

complete

protected

enables

GO:0070412

R-SMAD binding

PMID:8774881

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P84022

F

Seeded From UniProt

complete

protected

enables

GO:0070411

I-SMAD binding

PMID:9256479

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:O43541

F

Seeded From UniProt

complete

protected

involved_in

GO:0060395

SMAD protein signal transduction

PMID:9707553

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0060395

SMAD protein signal transduction

PMID:9732876

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

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

protected

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

protected

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:9732876

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:9389648

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:9311995

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:8774881

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0045892

negative regulation of transcription, DNA-templated

PMID:8774881

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

enables

GO:0044212

transcription regulatory region DNA binding

PMID:17438144

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

protected

contributes_to

GO:0043565

sequence-specific DNA binding

PMID:10823886

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

protected

enables

GO:0042803

protein homodimerization activity

PMID:8774881

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q13485

F

Seeded From UniProt

complete

protected

enables

GO:0042802

identical protein binding

PMID:9111321

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q13485

F

Seeded From UniProt

complete

protected

involved_in

GO:0032909

regulation of transforming growth factor beta2 production

PMID:12411310

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

protected

part_of

GO:0032444

activin responsive factor complex

PMID:9389648

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

enables

GO:0030616

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

PMID:9389648

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

protected

involved_in

GO:0030513

positive regulation of BMP signaling pathway

PMID:19366699

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

PMID:19328798

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0030509

BMP signaling pathway

PMID:9389648

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0030308

negative regulation of cell growth

PMID:8774881

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0017015

regulation of transforming growth factor beta receptor signaling pathway

PMID:8774881

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

protected

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

protected

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

protected

involved_in

GO:0007183

SMAD protein complex assembly

PMID:10823886

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0007179

transforming growth factor beta receptor signaling pathway

PMID:9732876

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0007179

transforming growth factor beta receptor signaling pathway

PMID:9389648

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

part_of

GO:0005737

cytoplasm

PMID:9389648

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

part_of

GO:0005737

cytoplasm

PMID:9311995

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

part_of

GO:0005737

cytoplasm

PMID:12161428

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

part_of

GO:0005667

transcription factor complex

PMID:17438144

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

part_of

GO:0005634

nucleus

PMID:9389648

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

part_of

GO:0005634

nucleus

PMID:9311995

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

part_of

GO:0005634

nucleus

PMID:12161428

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

contributes_to

GO:0003700

DNA-binding transcription factor activity

PMID:17438144

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

protected

contributes_to

GO:0003700

DNA-binding transcription factor activity

PMID:10823886

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

protected

contributes_to

GO:0003677

DNA binding

PMID:9389648

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

protected

involved_in

GO:0001666

response to hypoxia

PMID:12411310

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

protected

part_of

GO:0000790

nuclear chromatin

PMID:21828274

ECO:0000314

direct assay evidence used in manual assertion

C

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

Seeded From UniProt

complete

protected

involved_in

GO:0071559

response to transforming growth factor beta

PMID:9707553

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

part_of

GO:0071141

SMAD protein complex

PMID:18832382

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:18832382

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:9707553

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

protected

part_of

GO:0005667

transcription factor complex

PMID:12374795

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q8JIT7

C

Seeded From UniProt

complete

protected

part_of

GO:0005667

transcription factor complex

PMID:12374795

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P70056

C

Seeded From UniProt

complete

protected

enables

GO:0003712

transcription coregulator activity

PMID:18832382

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

protected

enables

GO:0000987

proximal promoter sequence-specific DNA binding

PMID:18832382

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

protected

enables

GO:0042802

identical protein binding

PMID:25609649

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q13485

F

Seeded From UniProt

complete

protected

enables

GO:0042802

identical protein binding

PMID:21988832

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q13485

F

Seeded From UniProt

complete

protected

part_of

GO:0005829

cytosol

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

part_of

GO:0005813

centrosome

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

part_of

GO:0005654

nucleoplasm

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

involved_in

GO:1901522

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

PMID:14687659

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

part_of:(GO:0071773)

Seeded From UniProt

complete

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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

protected

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



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