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MOUSE:EMIL1

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Species (Taxon ID) Mus musculus (Mouse). (10090)
Gene Name(s) Emilin1
Protein Name(s) EMILIN-1

Elastin microfibril interface-located protein 1 Elastin microfibril interfacer 1

External Links
UniProt Q99K41
EMBL AK029337
BC005481
CCDS CCDS19167.1
RefSeq NP_598679.1
UniGene Mm.286375
ProteinModelPortal Q99K41
SMR Q99K41
BioGrid 221560
IntAct Q99K41
MINT MINT-4094392
PhosphoSite Q99K41
MaxQB Q99K41
PaxDb Q99K41
PRIDE Q99K41
Ensembl ENSMUST00000031055
GeneID 100952
KEGG mmu:100952
UCSC uc008wwm.1
CTD 11117
MGI MGI:1926189
eggNOG NOG244192
GeneTree ENSGT00660000095314
HOGENOM HOG000112364
HOVERGEN HBG051473
InParanoid Q99K41
OMA LEGVCER
OrthoDB EOG74R1RX
PhylomeDB Q99K41
TreeFam TF331033
Reactome REACT_198998
NextBio 354704
PRO PR:Q99K41
Proteomes UP000000589
Bgee Q99K41
CleanEx MM_EMILIN1
Genevestigator Q99K41
GO GO:0005581
GO:0031012
GO:0005576
GO:0070062
GO:0005578
GO:0030023
GO:0042802
GO:0007155
GO:0030198
GO:0010811
Gene3D 2.60.120.40
InterPro IPR001073
IPR008160
IPR011489
IPR008983
Pfam PF00386
PF01391
PF07546
SUPFAM SSF49842
PROSITE PS50871
PS51041

Annotations

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

part_of

GO:0062023

collagen-containing extracellular matrix

PMID:28071719[1]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

part_of:(UBERON:0000006)

Seeded From UniProt

complete

enables

GO:0030023

extracellular matrix constituent conferring elasticity

PMID:28071719[1]

ECO:0007666

automatically integrated combinatorial computational and experimental evidence used in manual assertion

F

occurs_in:(UBERON:0000006)

Seeded From UniProt

complete

involved_in

GO:0032966

negative regulation of collagen biosynthetic process

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

PMID:22159717[3]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

part_of:(UBERON:0002048)|part_of:(UBERON:0001155)

Seeded From UniProt

complete

enables

GO:0030023

extracellular matrix constituent conferring elasticity

PMID:22159717[3]

ECO:0007666

automatically integrated combinatorial computational and experimental evidence used in manual assertion

F

occurs_in:(UBERON:0002048)|occurs_in:(UBERON:0001155)

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000035783)
  • occurs_in:(CL:0000186)
  • negatively_regulates:(GO:0001775)

Seeded From UniProt

complete

involved_in

GO:0060394

negative regulation of pathway-restricted SMAD protein phosphorylation

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030948

negative regulation of vascular endothelial growth factor receptor signaling pathway

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0003180

aortic valve morphogenesis

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0048251

elastic fiber assembly

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0050866

negative regulation of cell activation

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0002137)
  • part_of:(GO:0003180)
  • occurs_in:(CL:0000186)

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000032085)
  • occurs_in:(CL:0000186)
  • negatively_regulates:(GO:0001775)

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0002137)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000016534)

Seeded From UniProt

complete

involved_in

GO:0070373

negative regulation of ERK1 and ERK2 cascade

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0050866

negative regulation of cell activation

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0005990)
  • part_of:(GO:0003180)
  • occurs_in:(CL:0002548)

Seeded From UniProt

complete

involved_in

GO:1905522

negative regulation of macrophage migration

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0002137)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000016534)

Seeded From UniProt

complete

involved_in

GO:1904027

negative regulation of collagen fibril organization

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000020900)
  • occurs_in:(CL:0000186)
  • negatively_regulates:(GO:0001775)

Seeded From UniProt

complete

involved_in

GO:0016525

negative regulation of angiogenesis

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000017737)
  • positively_regulates:(GO:0085029)

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

PMID:23658023[4]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

part_of:(CL:0000057)

Seeded From UniProt

complete

involved_in

GO:0010628

positive regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000021186)
  • negatively_regulates:(GO:0001525)

Seeded From UniProt

complete

involved_in

GO:0010628

positive regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000001435)
  • negatively_regulates:(GO:0001525)

Seeded From UniProt

complete

involved_in

GO:0010628

positive regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000022025)
  • negatively_regulates:(GO:0001525)

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0002137)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000007613)

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0002137)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000002603)

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000024962)
  • negatively_regulates:(GO:0048010)
  • negatively_regulates:(GO:0001525)

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000029648)
  • negatively_regulates:(GO:0048010)
  • negatively_regulates:(GO:0001525)

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000023951)
  • negatively_regulates:(GO:0048010)
  • negatively_regulates:(GO:0001525)

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000020125)
  • occurs_in:(CL:0000775)
  • part_of:(GO:1901203)

Seeded From UniProt

complete

involved_in

GO:1901203

positive regulation of extracellular matrix assembly

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0010628

positive regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • part_of:(GO:1901203)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000029675)

Seeded From UniProt

complete

involved_in

GO:0010629

negative regulation of gene expression

PMID:25056700[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

  • occurs_in:(UBERON:0011742)
  • part_of:(GO:0003180)
  • part_of:(GO:1901203)
  • regulates_expression_of:(ENSEMBL:ENSMUSG00000031740)

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q9Y6C2

C

Seeded From UniProt

complete

part_of

GO:0005615

extracellular space

PMID:24006456[5]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

produced_by:(CL:0002548)

Seeded From UniProt

complete

part_of

GO:0031012

extracellular matrix

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1926189
MGI:MGI:2155091
MGI:MGI:2155345
PANTHER:PTN002556309

C

Seeded From UniProt

complete

part_of

GO:0031012

extracellular matrix

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1926189
MGI:MGI:2155091
MGI:MGI:2155345
PANTHER:PTN000396081

C

Seeded From UniProt

complete

enables

GO:0030023

extracellular matrix constituent conferring elasticity

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1926189
PANTHER:PTN000396130

F

Seeded From UniProt

complete

involved_in

GO:0010811

positive regulation of cell-substrate adhesion

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1926189
MGI:MGI:2155345
PANTHER:PTN002556309

P

Seeded From UniProt

complete

part_of

GO:1990971

EMILIN complex

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9Y6C2

C

Seeded From UniProt

complete

enables

GO:0098640

integrin binding involved in cell-matrix adhesion

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9Y6C2

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0070207

protein homotrimerization

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9Y6C2

P

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9Y6C2

C

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:14701737[7]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9Y6C2

F

Seeded From UniProt

complete

part_of

GO:0034668

integrin alpha4-beta1 complex

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9Y6C2

C

Seeded From UniProt

complete

part_of

GO:0031012

extracellular matrix

PMID:14701737[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0030198

extracellular matrix organization

PMID:18757743[8]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0030023

extracellular matrix constituent conferring elasticity

PMID:14701737[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:3028845

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0016477

cell migration

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9Y6C2

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0010811

positive regulation of cell-substrate adhesion

PMID:18757743[8]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007160

cell-matrix adhesion

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9Y6C2

P

Seeded From UniProt

complete

part_of

GO:0005615

extracellular space

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q9Y6C2

C

Seeded From UniProt

complete

part_of

GO:1990971

EMILIN complex

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9Y6C2
ensembl:ENSP00000369677

C

Seeded From UniProt

complete

enables

GO:0098640

integrin binding involved in cell-matrix adhesion

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9Y6C2
ensembl:ENSP00000369677

F

Seeded From UniProt

complete

involved_in

GO:0070207

protein homotrimerization

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9Y6C2
ensembl:ENSP00000369677

P

Seeded From UniProt

complete

part_of

GO:0062023

collagen-containing extracellular matrix

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9Y6C2
ensembl:ENSP00000369677

C

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9Y6C2
ensembl:ENSP00000369677

F

Seeded From UniProt

complete

part_of

GO:0034668

integrin alpha4-beta1 complex

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9Y6C2
ensembl:ENSP00000369677

C

Seeded From UniProt

complete

involved_in

GO:0016477

cell migration

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9Y6C2
ensembl:ENSP00000369677

P

Seeded From UniProt

complete

involved_in

GO:0007160

cell-matrix adhesion

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9Y6C2
ensembl:ENSP00000369677

P

Seeded From UniProt

complete

part_of

GO:0005615

extracellular space

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9Y6C2
ensembl:ENSP00000369677

C

Seeded From UniProt

complete

part_of

GO:0005576

extracellular region

Reactome:R-NUL-2426460

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005581

collagen trimer

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0176

C

Seeded From UniProt

complete

involved_in

GO:0007155

cell adhesion

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0130

P

Seeded From UniProt

complete

part_of

GO:0005576

extracellular region

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0964

C

Seeded From UniProt

complete

Notes

References

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

  1. 1.0 1.1 Naba, A et al. (2017) Quantitative proteomic profiling of the extracellular matrix of pancreatic islets during the angiogenic switch and insulinoma progression. Sci Rep 7 40495 PubMed GONUTS page
  2. 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 2.13 2.14 2.15 2.16 2.17 2.18 2.19 2.20 2.21 2.22 2.23 2.24 2.25 2.26 2.27 2.28 Munjal, C et al. (2014) TGF-β mediates early angiogenesis and latent fibrosis in an Emilin1-deficient mouse model of aortic valve disease. Dis Model Mech 7 987-96 PubMed GONUTS page
  3. 3.0 3.1 Naba, A et al. (2012) The matrisome: in silico definition and in vivo characterization by proteomics of normal and tumor extracellular matrices. Mol. Cell Proteomics 11 M111.014647 PubMed GONUTS page
  4. Soteriou, D et al. (2013) Comparative proteomic analysis of supportive and unsupportive extracellular matrix substrates for human embryonic stem cell maintenance. J. Biol. Chem. 288 18716-31 PubMed GONUTS page
  5. Abonnenc, M et al. (2013) Extracellular matrix secretion by cardiac fibroblasts: role of microRNA-29b and microRNA-30c. Circ. Res. 113 1138-47 PubMed GONUTS page
  6. 6.0 6.1 6.2 6.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  7. 7.0 7.1 7.2 Zanetti, M et al. (2004) EMILIN-1 deficiency induces elastogenesis and vascular cell defects. Mol. Cell. Biol. 24 638-50 PubMed GONUTS page
  8. 8.0 8.1 Manabe, R et al. (2008) Transcriptome-based systematic identification of extracellular matrix proteins. Proc. Natl. Acad. Sci. U.S.A. 105 12849-54 PubMed GONUTS page