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

    Gene ID: 1308, updated on 14-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:2194
    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; JEB4; 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
    mouse all
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    Genomic context

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    See COL17A1 in Genome Data Viewer
    Location:
    10q25.1
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (104031286..104085880, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (104918673..104973997, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105791044..105845638, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2794 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105730769-105731270 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105731271-105731770 Neighboring gene RNA, 7SL, cytoplasmic 524, pseudogene Neighboring gene STE20 like kinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105812840-105813426 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:105813739-105814938 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105826696-105827351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105827352-105828006 Neighboring gene microRNA 936 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:105879992-105881191 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105881347-105882010 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:105906549-105907080 Neighboring gene SWI5 dependent homologous recombination repair protein 1 Neighboring gene cilia and flagella associated protein 43 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:105915186-105915853 Neighboring gene tropomyosin 3 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Pregnant women have increased incidence of IgE autoantibodies reactive with the skin and placental antigen BP180 (type XVII collagen). Noe MH, et al. J Reprod Immunol, 2010 Jun. PMID 20471095, Free PMC Article
    2. Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII. Väisänen L, et al. J Invest Dermatol, 2005 Dec. PMID 16354180
    3. Collagen XVII is expressed in human CNS neurons. Seppänen A, et al. Matrix Biol, 2006 Apr. PMID 16387484
    4. Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa. Fu CL, et al. J Invest Dermatol, 2006 Jan. PMID 16417243
    5. Two major 5'-untranslated regions for type XVII collagen mRNA. van Zalen S, et al. J Dermatol Sci, 2006 Jul. PMID 16580182

    See all (147) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
      Title: Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
    2. Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
      Title: Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
    3. Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer.
      Title: Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer.
    4. What's new in the pathogeneses and triggering factors of bullous pemphigoid.
      Title: What's new in the pathogeneses and triggering factors of bullous pemphigoid.
    5. Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.
      Title: Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.
    6. Read-Through for Nonsense Mutations in Type XVII CollagenDeficient Junctional Epidermolysis Bullosa.
      Title: Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa.
    7. Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer.
      Title: Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer.
    8. BP180/Collagen XVII: A Molecular View.
      Title: BP180/Collagen XVII: A Molecular View.
    9. EGFR-mediated epidermal stem cell motility drives skin regeneration through COL17A1 proteolysis.
      Title: EGFR-mediated epidermal stem cell motility drives skin regeneration through COL17A1 proteolysis.
    10. Collagen XVII inhibits breast cancer cell proliferation and growth through deactivation of the AKT/mTOR signaling pathway.
      Title: Collagen XVII inhibits breast cancer cell proliferation and growth through deactivation of the AKT/mTOR signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (91)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Epidermolysis bullosa, junctional 4, intermediate
    MedGen: C2608084 OMIM: 619787 GeneReviews: Not available
    		not available
    Epithelial recurrent erosion dystrophy
    MedGen: C1852551 OMIM: 122400 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ60881, KIAA0204

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent conferring tensile strength HDA PubMed 
    enables extracellular matrix structural constituent conferring tensile strength IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables extracellular matrix structural constituent conferring tensile strength RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell-matrix adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hemidesmosome assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in basement membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell-cell junction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in hemidesmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in hemidesmosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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)

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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.

    Genomic

    1. NG_007069.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000494.4 → NP_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
      Q02802, Q5JV36, Q99018, Q9NQK9, Q9UC14, Q9UMD9
      UniProtKB/TrEMBL
      D3DRA2
      Related
      ENSP00000497653.1, ENST00000648076.2
      Conserved Domains (1) summary
      pfam01391
      Location:576 → 635
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      104031286..104085880 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      104918673..104973997 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UMD9.3 GenPept UniProtKB/Swiss-Prot:Q9UMD9

    Gene LinkOut

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

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