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EMILIN1 elastin microfibril interfacer 1 [ Homo sapiens (human) ]

Gene ID: 11117, updated on 23-Dec-2018

Summary

Official Symbol
EMILIN1provided by HGNC
Official Full Name
elastin microfibril interfacer 1provided by HGNC
Primary source
HGNC:HGNC:19880
See related
Ensembl:ENSG00000138080 MIM:130660
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EMI; gp115; EMILIN
Summary
This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
Expression
Broad expression in endometrium (RPKM 33.6), prostate (RPKM 26.6) and 20 other tissues See more
Orthologs

Genomic context

See EMILIN1 in Genome Data Viewer
Location:
2p23.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (27078567..27086403)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27301435..27309271)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene transfer RNA-Tyr (GTA) 2-1 Neighboring gene ATP/GTP binding protein like 5 Neighboring gene oligosaccharyltransferase complex subunit 4, non-catalytic Neighboring gene ketohexokinase Neighboring gene cell growth regulator with EF-hand domain 1 Neighboring gene abhydrolase domain containing 1 Neighboring gene prolactin regulatory element binding

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586M121

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix constituent conferring elasticity HDA PubMed 
extracellular matrix constituent conferring elasticity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
integrin binding involved in cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aortic valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
elastic fiber assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of ERK1 and ERK2 cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell activation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of collagen biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of collagen fibril organization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of macrophage migration ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of pathway-restricted SMAD protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transforming growth factor beta receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of vascular endothelial growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell-substrate adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of extracellular matrix assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homotrimerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
EMILIN complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
collagen-containing extracellular matrix IMP
Inferred from Mutant Phenotype
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IMP
Inferred from Mutant Phenotype
more info
PubMed 
integrin alpha4-beta1 complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
EMILIN-1
Names
elastin microfibril interface-located protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046849.1 RefSeqGene

    Range
    5001..12837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007046.3NP_008977.1  EMILIN-1 precursor

    See identical proteins and their annotated locations for NP_008977.1

    Status: REVIEWED

    Source sequence(s)
    AC013403, AL552691, BC142688
    Consensus CDS
    CCDS1733.1
    UniProtKB/Swiss-Prot
    Q9Y6C2
    Related
    ENSP00000369677.4, ENST00000380320.8
    Conserved Domains (3) summary
    pfam07546
    Location:58124
    EMI; EMI domain
    cl23878
    Location:8691010
    C1q; C1q domain
    cl25732
    Location:177798
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    27078567..27086403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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