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

    Gene ID: 11117, updated on 7-Apr-2024

    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; AllianceGenome:HGNC:19880
    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; HMN10; gp115; EMILIN; HMND10
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EMILIN1 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27078615..27086403)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27120286..27128076)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27301483..27309271)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11838 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:27274291-27274790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11281 Neighboring gene tRNA-Ala (anticodon AGC) 8-1 Neighboring gene AGBL carboxypeptidase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27300904-27301682 Neighboring gene oligosaccharyltransferase complex subunit 4, non-catalytic Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27315477-27316062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27316063-27316648 Neighboring gene ketohexokinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27321908-27322751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27324357-27324857 Neighboring gene uncharacterized LOC124907744 Neighboring gene cell growth regulator with EF-hand domain 1

    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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp586M121

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix constituent conferring elasticity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables extracellular matrix constituent conferring elasticity RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables integrin binding involved in cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables molecular adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell adhesion mediated by integrin ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in elastic fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of collagen biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of macrophage migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of vascular endothelial growth factor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of angiogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of blood coagulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of extracellular matrix assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of platelet aggregation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of blood pressure ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5049..12837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007046.4NP_008977.1  EMILIN-1 precursor

      See identical proteins and their annotated locations for NP_008977.1

      Status: REVIEWED

      Source sequence(s)
      AL552691, BC142688
      Consensus CDS
      CCDS1733.1
      UniProtKB/Swiss-Prot
      A0A0C4DFX3, A5PL03, H0Y7A0, Q53SY9, Q96G58, Q96IH6, Q9UG76, Q9Y6C2
      Related
      ENSP00000369677.4, ENST00000380320.9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27078615..27086403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27120286..27128076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)