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    COL5A3 collagen type V alpha 3 chain [ Homo sapiens (human) ]

    Gene ID: 50509, updated on 21-Apr-2019

    Summary

    Official Symbol
    COL5A3provided by HGNC
    Official Full Name
    collagen type V alpha 3 chainprovided by HGNC
    Primary source
    HGNC:HGNC:14864
    See related
    Ensembl:ENSG00000080573 MIM:120216
    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
    Summary
    This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 20.1), fat (RPKM 19.6) and 20 other tissues See more
    Orthologs

    Genomic context

    See COL5A3 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (9959561..10010532, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10070237..10121147, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 1 Neighboring gene olfactomedin 2 Neighboring gene retinol dehydrogenase 8 Neighboring gene microRNA 5589

    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?

    Pathways from BioSystems

    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen chain trimerization, organism-specific biosystem (from REACTOME)
      Collagen chain trimerization, organism-specific biosystemThe C-propeptides of collagen propeptide chains are essential for the association of three peptide chains into a trimeric but non-helical procollagen. This initial binding event determines the compo...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • miRNA targets in ECM and membrane receptors, organism-specific biosystem (from WikiPathways)
      miRNA targets in ECM and membrane receptors, organism-specific biosystemBased on the KEGG ECM-receptor interactions pathway (hsa04512), a depiction a plausible mechanism, where miRNAs regulate components of both extracellular matrix (top panel) and transmembrane receptor...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    collagen fibril organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    skin development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    collagen type V trimer NAS
    Non-traceable Author Statement
    more info
    PubMed 
    collagen-containing extracellular matrix HDA PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    collagen alpha-3(V) chain
    Names
    collagen, type V, alpha 3
    pro-(alpha)3(V) collagen

    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_046943.1 RefSeqGene

      Range
      5068..55978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015719.4NP_056534.2  collagen alpha-3(V) chain preproprotein

      See identical proteins and their annotated locations for NP_056534.2

      Status: REVIEWED

      Source sequence(s)
      AC008742, AF177941, BQ006883
      Consensus CDS
      CCDS12222.1
      UniProtKB/Swiss-Prot
      P25940
      Related
      ENSP00000264828.3, ENST00000264828.4
      Conserved Domains (3) summary
      pfam01391
      Location:572631
      Collagen; Collagen triple helix repeat (20 copies)
      pfam01410
      Location:15151743
      COLFI; Fibrillar collagen C-terminal domain
      cl22861
      Location:31210
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    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_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      9959561..10010532 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528042.2XP_011526344.1  collagen alpha-3(V) chain isoform X1

      Conserved Domains (3) summary
      pfam01391
      Location:571630
      Collagen; Collagen triple helix repeat (20 copies)
      pfam01410
      Location:15141742
      COLFI; Fibrillar collagen C-terminal domain
      cl22861
      Location:31209
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    2. XM_017026849.2XP_016882338.1  collagen alpha-3(V) chain isoform X2

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