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    COL15A1 collagen type XV alpha 1 chain [ Homo sapiens (human) ]

    Gene ID: 1306, updated on 9-Jun-2016
    Official Symbol
    COL15A1provided by HGNC
    Official Full Name
    collagen type XV alpha 1 chainprovided by HGNC
    Primary source
    HGNC:HGNC:2192
    See related
    Ensembl:ENSG00000204291 HPRD:00380; MIM:120325; Vega:OTTHUMG00000020351
    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 the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]
    Orthologs
    Location:
    9q21-q22
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (98943392..99070792)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101705995..101833074)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724684 Neighboring gene NME/NM23 nucleoside diphosphate kinase 2 pseudogene Neighboring gene transforming growth factor beta receptor 1 Neighboring gene RNA, 5S ribosomal pseudogene 290 Neighboring gene uncharacterized LOC105376174

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
    NHGRI GWA Catalog
    • 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 degradation, organism-specific biosystem (from REACTOME)
      Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
    • 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...
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • 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...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ38566

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent IC
    Inferred by Curator
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion IC
    Inferred by Curator
    more info
    PubMed 
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    collagen catabolic process TAS
    Traceable Author Statement
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    collagen type XV trimer TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    collagen alpha-1(XV) chain
    Names
    collagen XV, alpha-1 polypeptide
    collagen type XV proteoglycan
    collagen, type XV, alpha 1
    endostatin-XV
    restin

    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_001855.4NP_001846.3  collagen alpha-1(XV) chain precursor

      See identical proteins and their annotated locations for NP_001846.3

      Status: REVIEWED

      Source sequence(s)
      AK095885, AL354923, BX337171, HY016428, L25286
      Consensus CDS
      CCDS35081.1
      UniProtKB/Swiss-Prot
      P39059
      UniProtKB/TrEMBL
      B3KTP7
      Related
      ENSP00000364140, OTTHUMP00000021782, ENST00000375001, OTTHUMT00000053386
      Conserved Domains (4) summary
      pfam01391
      Location:670716
      Collagen; Collagen triple helix repeat (20 copies)
      smart00210
      Location:40228
      TSPN; Thrombospondin N-terminal -like domains
      cd00247
      Location:12151381
      Endostatin-like; Endostatin-like domain; the angiogenesis inhibitor endostatin is a C-terminal fragment of collagen XV/XVIII, a proteoglycan/collagen found in vessel walls and basement membranes; this domain has a compact globular fold similar to that of C-type lectins; ...
      pfam06482
      Location:11311388
      Endostatin; Collagenase NC10 and Endostatin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      98943392..99070792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518214.2XP_011516516.1  

      See identical proteins and their annotated locations for XP_011516516.1

      UniProtKB/Swiss-Prot
      P39059
      Conserved Domains (4) summary
      pfam01391
      Location:670716
      Collagen; Collagen triple helix repeat (20 copies)
      smart00210
      Location:40228
      TSPN; Thrombospondin N-terminal -like domains
      cd00247
      Location:12151381
      Endostatin-like; Endostatin-like domain; the angiogenesis inhibitor endostatin is a C-terminal fragment of collagen XV/XVIII, a proteoglycan/collagen found in vessel walls and basement membranes; this domain has a compact globular fold similar to that of C-type lectins; ...
      pfam06482
      Location:11311388
      Endostatin; Collagenase NC10 and Endostatin

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      101852422..101979513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)