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

Gene ID: 280635, updated on 27-Nov-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 genitourinary system; gut; integumental system; limb; and nervous system. Orthologous to human EMILIN3 (elastin microfibril interfacer 3). [provided by Alliance of Genome Resources, Nov 2024]
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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See Emilin3 in Genome Data Viewer
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. Overlapping, complementary and site-specific expression pattern of genes of the EMILIN/Multimerin family. Braghetta P, et al. Matrix Biol, 2004 Jan. PMID 14996434
  4. 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
  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 (24) 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)
  • Endonuclease-mediated (2) 
  • Targeted (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 IEA
Inferred from Electronic Annotation
more info
  
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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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