COL17A1 collagen, type XVII, alpha 1 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: COL17A1provided by HGNC
Official Full Name: collagen, type XVII, alpha 1provided by HGNC
Primary source: HGNC:2194
Locus tag: RP11-16H23.2
See related: Ensembl:ENSG00000065618; HPRD:00223; MIM:113811; Vega:OTTHUMG00000018998
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: BP180; BPA-2; BPAG2; LAD-1; BA16H23.2; FLJ60881; KIAA0204
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]

Help top of page

Genomic context

Location :: 10q24.3

Sequence :: Chromosome: 10; NC_000010.10 (105791046..105845638, complement)

See COL17A1 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

migrating keratinocytes shed the Ecto-ColXVII, and this dynamically binds via its C-terminal domain to distinct partners in the ECM
Title: Dynamic interactions of epidermal collagen XVII with the extracellular matrix: laminin 332 as a major binding partner.
presence of minor amounts of collagen XVII protein in JEB skin is associated with mild phenotypic manifestations.
Title: Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
Cell surface COL17 can interact with laminin 332 and, together, participate in the adherence of a cell to the extracellular matrix.
Title: Type XVII collagen (BP180) can function as a cell-matrix adhesion molecule via binding to laminin 332.
Alterations in type I hemidesmosome components (BP180 and BP230) are suggestive of epigenetic control in the salivary glands of patients with Sjogren's syndrome.
Title: Alterations in type I hemidesmosome components suggestive of epigenetic control in the salivary glands of patients with Sjögren's syndrome.
small proportion of pregnant women produce protein-specific IgE autoantibodies
Title: Pregnant women have increased incidence of IgE autoantibodies reactive with the skin and placental antigen BP180 (type XVII collagen).
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
anti-hBPAG2 IgG was initially directed against extracelllar domain epitopes;humoral responses subsequently targeted additional extra and intracellular domain BPAG2 epitopes
Title: Sequential intramolecular epitope spreading of humoral responses to human BPAG2 in a transgenic model.
Depletion of CD4-positive T cells as well as CD45R-positive B cells in an immunodeficient transgenic mouse model of bullous pemphigoid inhibits production of anti-human COL17 IgG antibodies in the recipients, resulting in no apparent clinical phenotype.
Title: A novel active mouse model for bullous pemphigoid targeting humanized pathogenic antigen.
The role of collagen XVII in both autoimmune and genetic blistering disorders demonstrates its relevance to dermal-epidermal adhesion
Title: Collagen XVII.
glycine substitutions in the Col15 domain interfere with the triple-helix formation, transmembrane targeting, and ectodomain shedding of collagen XVII, and that these disturbances lead to skin blistering
Title: Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications.

Submit: New GeneRIF Correction See all (40)

Help top of page

Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

epidermolysis bullosa, junctional, localisata

MIM: 226650

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

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
Q9UMD9	P12814	ACTN1	HPRD	PubMed
Q9UMD9	O43707	ACTN4	HPRD	PubMed
Q9UMD9	O94985	CLSTN1	HPRD	PubMed
Q9UMD9	Q9UMD9	COL17A1	HPRD	PubMed
Q9UMD9	O60716	CTNND1	HPRD	PubMed
Q9UMD9	P15924	DSP	HPRD	PubMed
Q9UMD9	O94833	DST	HPRD	PubMed
Q9UMD9	P23229	ITGA6	HPRD	PubMed
Q9UMD9	P16144	ITGB4	HPRD	PubMed
Q9UMD9	P05783	KRT18	HPRD	PubMed
Q9UMD9	O00515	LAD1	HPRD	PubMed
Q9UMD9	Q15149	PLEC	HPRD	PubMed
Q9UMD9	O60437	PPL	HPRD	PubMed
BioGRID:107704	BioGRID:106602	ACTN1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107704	BioGRID:106596	ACTN4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107704	BioGRID:107881	CTNND1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107704	BioGRID:107135	DST	BioGRID	PubMed	Co-localization; Two-hybrid
BioGRID:107704	BioGRID:109897	ITGB4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107704	BioGRID:110073	KRT18	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107704	BioGRID:111488	PPL	BioGRID	PubMed	Two-hybrid
BioGRID:107704	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cell junction assembly	TAS Traceable Author Statement more info
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

Component	Evidence Code	Pubs
basement membrane	IEA Inferred from Electronic Annotation more info
cell-cell junction	TAS Traceable Author Statement more info	PubMed
collagen	IEA Inferred from Electronic Annotation more info
extracellular region	IEA Inferred from Electronic Annotation more info
hemidesmosome	IDA Inferred from Direct Assay more info	PubMed
integral to 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: collagen alpha-1(XVII) chain; alpha 1 type XVII collagen; collagen XVII, alpha-1 polypeptide; 180 kDa bullous pemphigoid antigen 2; bullous pemphigoid antigen 2 (180kD); bA16H23.2 (collagen, type XVII, alpha 1 (BP180))

Help top of page

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

NG_007069.1 RefSeqGene

Range

5001..59593

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AL138761

Consensus CDS

CCDS7554.1

UniProtKB/Swiss-Prot

Q9UMD9

Related

ENSP00000340937, OTTHUMP00000020422, ENST00000353479, OTTHUMT00000050181

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

105791046..105845638, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

99422100..99477424, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_130778.1: Suppressed sequence

Description

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

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL138761.12	CAC00589.1
		CAI12397.1
		CAI12398.1
		CAM13376.1
genomic	CH471066.2	EAW49612.1
		EAW49613.1
		EAW49614.1
genomic	U76564.1	None
genomic	U76565.1	AAB51499.1
genomic	U76566.1	AAB51499.1
genomic	U76567.1	AAB51499.1
genomic	U76568.1	AAB51499.1
genomic	U76569.1	AAB51499.1
genomic	U76570.1	AAB51499.1
genomic	U76571.1	AAB51499.1
genomic	U76572.1	AAB51499.1
genomic	U76573.1	AAB51499.1
genomic	U76574.1	AAB51499.1
genomic	U76575.1	AAB51499.1
genomic	U76576.1	AAB51499.1
genomic	U76577.1	AAB51499.1
genomic	U76578.1	AAB51499.1
genomic	U76579.1	AAB51499.1
genomic	U76580.1	AAB51499.1
genomic	U76581.1	AAB51499.1
genomic	U76582.1	AAB51499.1
genomic	U76583.1	AAB51499.1
genomic	U76584.1	AAB51499.1
genomic	U76585.1	AAB51499.1
genomic	U76586.1	AAB51499.1
genomic	U76587.1	AAB51499.1
genomic	U76588.1	AAB51499.1
genomic	U76589.1	AAB51499.1
genomic	U76590.1	AAB51499.1
genomic	U76591.1	AAB51499.1
genomic	U76592.1	AAB51499.1
genomic	U76593.1	AAB51499.1
genomic	U76604.1	AAB51499.1
mRNA	AF136185.1	None
mRNA	AF136186.1	None
mRNA	AK309940.1	None
mRNA	AU076442.1	None
mRNA	BC004478.2	AAH04478.1
mRNA	D63465.1	None
mRNA	M63730.1	AAA51839.1
mRNA	M91669.1	AAA35605.1
other-genetic	BC168368.1	AAI68368.1