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    COL17A1 collagen type XVII alpha 1 chain [ Homo sapiens (human) ]

    Gene ID: 1308, updated on 21-Apr-2019

    Summary

    Official Symbol
    COL17A1provided by HGNC
    Official Full Name
    collagen type XVII alpha 1 chainprovided by HGNC
    Primary source
    HGNC:HGNC:2194
    See related
    Ensembl:ENSG00000065618 MIM:113811
    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
    Also known as
    ERED; BP180; BPA-2; BPAG2; LAD-1; BA16H23.2
    Summary
    This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in skin (RPKM 286.9), colon (RPKM 25.5) and 2 other tissues See more
    Orthologs

    Genomic context

    See COL17A1 in Genome Data Viewer
    Location:
    10q25.1
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (104031288..104085880, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105791046..105845638, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724351 Neighboring gene RNA, 7SL, cytoplasmic 524, pseudogene Neighboring gene STE20 like kinase Neighboring gene microRNA 936 Neighboring gene cilia and flagella associated protein 43 Neighboring gene SWI5 dependent homologous recombination repair protein 1 Neighboring gene tropomyosin 3 pseudogene

    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?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • 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 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...
    • Type I hemidesmosome assembly, organism-specific biosystem (from REACTOME)
      Type I hemidesmosome assembly, organism-specific biosystemHemidesmosomes (HDs) are specialized multiprotein junctional complexes that connect the keratin cytoskeleton of epithelial cells to the extracellular matrix and play a critical role in the maintenan...
    • a6b1 and a6b4 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
      a6b1 and a6b4 Integrin signaling, organism-specific biosystem
      a6b1 and a6b4 Integrin signaling

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ60881, KIAA0204

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell-matrix adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    hemidesmosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hemidesmosome assembly TAS
    Traceable Author Statement
    more info
     
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    basement membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell junction TAS
    Traceable Author Statement
    more info
    PubMed 
    collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    collagen-containing extracellular matrix HDA PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    hemidesmosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    collagen alpha-1(XVII) chain
    Names
    180 kDa bullous pemphigoid antigen 2
    alpha 1 type XVII collagen
    bA16H23.2 (collagen, type XVII, alpha 1 (BP180))
    bullous pemphigoid antigen 2 (180kD)
    collagen XVII, alpha-1 polypeptide
    collagen, type XVII, alpha 1
    type XVII collagen alpha-1

    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_007069.1 RefSeqGene

      Range
      5001..59595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1249

    mRNA and Protein(s)

    1. NM_000494.4NP_000485.3  collagen alpha-1(XVII) chain

      See identical proteins and their annotated locations for NP_000485.3

      Status: REVIEWED

      Source sequence(s)
      AF136185, AI572644, AL138761, DA646288, M91669
      Consensus CDS
      CCDS7554.1
      UniProtKB/Swiss-Prot
      Q9UMD9
      Related
      ENSP00000497653.1, ENST00000648076.2
      Conserved Domains (1) summary
      pfam01391
      Location:576635
      Collagen; Collagen triple helix repeat (20 copies)

    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_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      104031288..104085880 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_130778.1: Suppressed sequence

      Description
      NM_130778.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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