U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 1308, updated on 10-Dec-2024

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; 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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

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

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

Associated conditions

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ60881, KIAA0204

Gene Ontology Provided by GOA

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

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)

NEW Try the new Transcript table

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.