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

Gene ID: 1308, updated on 13-Mar-2020

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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (104031286..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 Functions

What'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 PubChem

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 
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
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 matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemidesmosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    104031286..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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