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    Emilin1 elastin microfibril interfacer 1 [ Mus musculus (house mouse) ]

    Gene ID: 100952, updated on 13-Jan-2025

    Summary

    Official Symbol
    Emilin1provided by MGI
    Official Full Name
    elastin microfibril interfacer 1provided by MGI
    Primary source
    MGI:MGI:1926189
    See related
    Ensembl:ENSMUSG00000029163 AllianceGenome:MGI:1926189
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    gp115; EMILIN-1; 5830419M17Rik
    Summary
    Enables extracellular matrix constituent conferring elasticity and identical protein binding activity. Involved in several processes, including negative regulation of signal transduction; regulation of angiogenesis; and regulation of extracellular matrix organization. Acts upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Located in extracellular matrix. Is expressed in several structures, including early conceptus; embryo mesenchyme; genitourinary system; heart and pericardium; and musculoskeletal system. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 10. Orthologous to human EMILIN1 (elastin microfibril interfacer 1). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Broad expression in limb E14.5 (RPKM 47.2), ovary adult (RPKM 46.0) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Emilin1 in Genome Data Viewer
    Location:
    5 B1; 5 16.9 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (31070729..31078623)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (30913387..30921279)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35795 Neighboring gene nuclear encoded tRNA alanine 15 (anticodon AGC) Neighboring gene ATP/GTP binding protein-like 5 Neighboring gene oligosaccharyltransferase complex subunit 4 (non-catalytic) Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:31218364-31218473 Neighboring gene STARR-positive B cell enhancer ABC_E4749 Neighboring gene ketohexokinase Neighboring gene cell growth regulator with EF hand domain 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 30
    Process Evidence Code Pubs
    involved_in aortic valve morphogenesis PubMed 
    involved_in cell adhesion mediated by integrin PubMed 
    involved_in cell migration  
    involved_in cell migration  
    involved_in cell-matrix adhesion  
    involved_in cell-matrix adhesion  
    involved_in elastic fiber assembly PubMed 
    acts_upstream_of_or_within extracellular matrix organization PubMed 
    involved_in negative regulation of ERK1 and ERK2 cascade PubMed 
    involved_in negative regulation of SMAD protein signal transduction PubMed 
    involved_in negative regulation of angiogenesis PubMed 
    involved_in negative regulation of cell activation PubMed 
    involved_in negative regulation of cell migration  
    involved_in negative regulation of collagen biosynthetic process PubMed 
    involved_in negative regulation of collagen fibril organization PubMed 
    involved_in negative regulation of gene expression PubMed 
    involved_in negative regulation of macrophage migration PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway PubMed 
    involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway PubMed 
    involved_in negative regulation of vascular endothelial growth factor signaling pathway PubMed 
    involved_in positive regulation of angiogenesis PubMed 
    involved_in positive regulation of apoptotic process  
    involved_in positive regulation of blood coagulation  
    acts_upstream_of_or_within positive regulation of cell-substrate adhesion PubMed 
    involved_in positive regulation of defense response to bacterium  
    involved_in positive regulation of extracellular matrix assembly PubMed 
    involved_in positive regulation of gene expression PubMed 
    involved_in positive regulation of platelet aggregation  
    involved_in regulation of blood pressure PubMed 
    involved_in regulation of cell population proliferation PubMed 
    Items 1 - 25 of 30
    Component Evidence Code Pubs
    part_of EMILIN complex  
    part_of collagen trimer  
    located_in collagen-containing extracellular matrix PubMed 
    located_in collagen-containing extracellular matrix  
    located_in collagen-containing extracellular matrix  
    located_in collagen-containing extracellular matrix PubMed 
    located_in extracellular matrix PubMed 
    located_in extracellular region  
    located_in extracellular space PubMed 
    located_in extracellular space  
    part_of integrin alpha4-beta1 complex  
    part_of integrin alpha4-beta1 complex  

    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.

    mRNA and Protein(s)

    1. NM_133918.2NP_598679.1  EMILIN-1 precursor

      See identical proteins and their annotated locations for NP_598679.1

      Status: PROVISIONAL

      Source sequence(s)
      AC109606
      Consensus CDS
      CCDS19167.1
      UniProtKB/Swiss-Prot
      Q99K41
      UniProtKB/TrEMBL
      Q3U254
      Related
      ENSMUSP00000031055.6, ENSMUST00000031055.8
      Conserved Domains (4) summary
      pfam07546
      Location:58126
      EMI; EMI domain
      pfam15394
      Location:278421
      DUF4616; Domain of unknown function (DUF4616)
      cl01972
      Location:180255
      DUF948; Bacterial protein of unknown function (DUF948)
      cl23878
      Location:8701011
      C1q; C1q domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      31070729..31078623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503649.5XP_006503712.1  EMILIN-1 isoform X1

      UniProtKB/TrEMBL
      Q3USG5
      Conserved Domains (2) summary
      TIGR02168
      Location:436605
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl23878
      Location:667808
      C1q; C1q domain
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