ENSG00000138080


Homo sapiens

Features
Gene ID: ENSG00000138080
  
Biological name :EMILIN1
  
Synonyms : elastin microfibril interfacer 1 / EMILIN1 / Q9Y6C2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: p23.3
Gene start: 27078567
Gene end: 27086408
  
Corresponding Affymetrix probe sets: 204163_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000369677
Ensembl peptide - ENSP00000411201
NCBI entrez gene - 11117     See in Manteia.
OMIM - 130660
RefSeq - NM_007046
RefSeq Peptide - NP_008977
swissprot - A0A0A0MT20
swissprot - Q9Y6C2
Ensembl - ENSG00000138080
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 emilin1aENSDARG00000024537Danio rerio
 emilin1bENSDARG00000026166Danio rerio
 ENSGALG00000033187Gallus gallus
 Q99K41ENSMUSG00000029163Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9BXX0 / EMILIN2 / elastin microfibril interfacer 2ENSG0000013220525
Q9NT22 / EMILIN3 / elastin microfibril interfacer 3ENSG0000018379817
EMID1 / Q96A84 / EMI domain containing 1ENSG0000018699812
Q96A83 / COL26A1 / collagen type XXVI alpha 1 chainENSG0000016096312


Protein motifs (from Interpro)
Interpro ID Name
 IPR001073  C1q domain
 IPR008160  Collagen triple helix repeat
 IPR008983  Tumour necrosis factor-like domain superfamily
 IPR011489  EMI domain
 IPR016133  Insect cysteine-rich antifreeze protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0007160 cell-matrix adhesion IMP
 biological_processGO:0010811 positive regulation of cell-substrate adhesion IEA
 biological_processGO:0016477 cell migration IMP
 biological_processGO:0030198 extracellular matrix organization IEA
 biological_processGO:0070207 protein homotrimerization IMP
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0031012 extracellular matrix IDA
 cellular_componentGO:0034668 integrin alpha4-beta1 complex IMP
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1990971 EMILIN complex IMP
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030023 extracellular matrix constituent conferring elasticity IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0098640 integrin binding involved in cell-matrix adhesion IMP


Pathways (from Reactome)
Pathway description
Molecules associated with elastic fibres


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000166147 FBN1 / P35555 / fibrillin 1  / reaction / complex
 ENSG00000140259 MFAP1 / P55081 / microfibril associated protein 1  / complex / reaction
 ENSG00000049540 ELN / P15502 / elastin  / complex / reaction
 ENSG00000037749 MFAP3 / P55082 / microfibril associated protein 3  / reaction / complex
 ENSG00000109072 VTN / P04004 / vitronectin  / complex / reaction
 ENSG00000166482 MFAP4 / P55083 / microfibril associated protein 4  / complex / reaction
 ENSG00000197614 MFAP5 / Q13361 / microfibril associated protein 5  / reaction / complex
 ENSG00000138080 Q9Y6C2 / EMILIN1 / elastin microfibril interfacer 1  / complex / -
 ENSG00000138829 FBN2 / P35556 / fibrillin 2  / reaction / complex
 ENSG00000117122 MFAP2 / P55001 / microfibril associated protein 2  / reaction / complex






 

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