COL7A1

GENE INFORMATION

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Gene name

COL7A1 (HGNC Symbol)

Synonyms

EBD1, EBDCT, EBR1

Description

Collagen, type VII, alpha 1 (HGNC Symbol)

Entrez gene summary

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]

Chromosome

3

Cytoband

p21.31

Chromosome location (bp)

48564073 - 48595267

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000114270 (version 78.38)

Entrez gene

1294

UniProt

Q02388 (UniProt - Evidence at protein level)

neXtProt

NX_Q02388

Antibodypedia

COL7A1 antibodies
 

PROTEIN VIEW

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COL7A1-001
 
COL7A1-003
 
 
 
 
 

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)

COL7A1-001 ENSP00000332371
ENST00000328333
Q02388
Show all »
Show » Show » 2944 295.2 Yes 0
COL7A1-003 ENSP00000391608
ENST00000422991
C9JBL3
Show all »
Show » 173 16.3 No 0