Gene: COL7A1 (collagen type VII alpha 1 chain) Homo sapiens
Symbol: COL7A1
Name: collagen type VII alpha 1 chain
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: collagen alpha-1(VII) chain; collagen type VII alpha 1; collagen VII, alpha-1 polypeptide; collagen, type VII, alpha 1; EBD1; EBDCT; EBR1; LC collagen; long chain collagen; long-chain collagen; NDNC8; OTTHUMP00000164822
Mus musculus (house mouse) : Col7a1 (collagen, type VII, alpha 1)  MGI  AGR
Rattus norvegicus (Norway rat) : Col7a1 (collagen type VII alpha 1 chain)  AGR
Chinchilla lanigera (long-tailed chinchilla) : Col7a1 (collagen type VII alpha 1 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL7A1 (collagen type VII alpha 1 chain)
Canis lupus familiaris (dog) : COL7A1 (collagen type VII alpha 1 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col7a1 (collagen type VII alpha 1 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38348,564,073 - 48,595,302 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37348,601,506 - 48,632,593 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36348,576,510 - 48,607,597 (-)NCBINCBI36hg18NCBI36
Build 34348,576,509 - 48,607,689NCBI
Celera348,557,241 - 48,588,335 (-)NCBI
Cytogenetic Map3p21.31NCBI
HuRef348,659,828 - 48,690,843 (-)NCBIHuRef
CHM1_1348,553,813 - 48,584,903 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on COL7A1
AGR Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1322869
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2017-12-26
Status: ACTIVE