COL17A1

GENE INFORMATION

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Gene name

COL17A1 (HGNC Symbol)

Synonyms

BP180, BPAG2

Description

Collagen, type XVII, alpha 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

10

Cytoband

q25.1

Chromosome location (bp)

104031286 - 104086002

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000065618 (version 78.38)

Entrez gene

1308

UniProt

Q9UMD9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UMD9

Antibodypedia

COL17A1 antibodies
 

PROTEIN VIEW

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COL17A1-001
 
COL17A1-002
 
COL17A1-003
 
COL17A1-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL17A1-001 ENSP00000340937
ENST00000353479
Q9UMD9
Show all »
Show » Show » 1497 150.4 No 1
COL17A1-002 ENSP00000388832
ENST00000433822
Show » 66 6.6 No 0
COL17A1-003 ENSP00000358748
ENST00000369733
Q9UMD9
Show all »
Show » Show » 1415 142.3 No 1
COL17A1-007 ENSP00000376905
ENST00000393211
A2A2Y8
Show all »
Show » 417 44.1 No 0