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    Emilin3 elastin microfibril interfacer 3 [ Mus musculus (house mouse) ]

    Gene ID: 280635, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Emilin3provided by MGI
    Official Full Name
    elastin microfibril interfacer 3provided by MGI
    Primary source
    MGI:MGI:2389142
    See related
    Ensembl:ENSMUSG00000050700 AllianceGenome:MGI:2389142
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Emilin5; EMILIN-3; EMILIN-5; EMILIN-T; 1110013O17Rik
    Summary
    Predicted to enable identical protein binding activity. Located in cytoplasm. Is expressed in several structures, including alimentary system; limb; reproductive system; skin; and vertebral cartilage condensation. Orthologous to human EMILIN3 (elastin microfibril interfacer 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in limb E14.5 (RPKM 27.0), CNS E11.5 (RPKM 2.7) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 H2; 2 80.98 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (160748358..160754259, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (160906438..160912339, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 35129 Neighboring gene lipin 3 Neighboring gene uncharacterized LOC118568533 Neighboring gene predicted gene, 35181 Neighboring gene STARR-seq mESC enhancer starr_06266 Neighboring gene chromodomain helicase DNA binding protein 6 Neighboring gene STARR-seq mESC enhancer starr_06268 Neighboring gene predicted gene, 25561

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. EMILIN3, an extracellular matrix molecule with restricted distribution in skin. Corallo D, et al. Exp Dermatol, 2017 May. PMID 27892605
    2. Molecular cloning and characterization of a novel gene, EMILIN-5, and its possible involvement in skeletal development. Doi M, et al. Biochem Biophys Res Commun, 2004 Jan 23. PMID 14706625
    3. EMILIN-3, peculiar member of elastin microfibril interface-located protein (EMILIN) family, has distinct expression pattern, forms oligomeric assemblies, and serves as transforming growth factor β (TGF-β) antagonist. Schiavinato A, et al. J Biol Chem, 2012 Mar 30. PMID 22334695, Free PMC Article
    4. Overlapping, complementary and site-specific expression pattern of genes of the EMILIN/Multimerin family. Braghetta P, et al. Matrix Biol, 2004 Jan. PMID 14996434
    5. EMILIN proteins are novel extracellular constituents of the dentin-pulp complex. Imhof T, et al. Sci Rep, 2020 Sep 18. PMID 32948785, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. dispensable for hair follicle growth and maintenance
      Title: EMILIN3, an extracellular matrix molecule with restricted distribution in skin.
    2. characterization of the expression and biochemical properties of EMILIN-3
      Title: EMILIN-3, peculiar member of elastin microfibril interface-located protein (EMILIN) family, has distinct expression pattern, forms oligomeric assemblies, and serves as transforming growth factor β (TGF-β) antagonist.
    3. Transcripts highly enriched in ovary; gene identified as candidate female fertility factor.
      Title: Genomewide discovery and classification of candidate ovarian fertility genes in the mouse.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    EMILIN-3
    Names
    elastin microfibril interface located protein 5
    elastin microfibril interface-located protein 3
    elastin microfibril interfacer 5

    NCBI Reference Sequences (RefSeq)

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    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_001291145.1 → NP_001278074.1  EMILIN-3 isoform b precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      BC057619, BY139070, W50635
      Consensus CDS
      CCDS71181.1
      UniProtKB/TrEMBL
      A2A4B4
      Related
      ENSMUSP00000105080.2, ENSMUST00000109454.8
      Conserved Domains (2) summary
      pfam01442
      Location:414 → 593
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam07546
      Location:58 → 122
      EMI; EMI domain

    2. NM_182840.2 → NP_878260.1  EMILIN-3 isoform a precursor

      See identical proteins and their annotated locations for NP_878260.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC057619, BY139070
      Consensus CDS
      CCDS16999.1
      UniProtKB/Swiss-Prot
      P59900
      Related
      ENSMUSP00000059732.5, ENSMUST00000057169.5
      Conserved Domains (2) summary
      pfam01442
      Location:461 → 640
      Apolipoprotein; Apolipoprotein A1/A4/E domain
      pfam07546
      Location:58 → 122
      EMI; EMI 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_000068.8 Reference GRCm39 C57BL/6J

      Range
      160748358..160754259 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59900.1 GenPept UniProtKB/Swiss-Prot:P59900

    Gene LinkOut

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