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Gene: COL7A1 (collagen type VII alpha 1 chain) Homo sapiens
Symbol: COL7A1
Name: collagen type VII alpha 1 chain
Description: Exhibits extracellular matrix structural constituent conferring tensile strength. Involved in endodermal cell differentiation. Localizes to the collagen-containing extracellular matrix and extracellular space. Implicated in autosomal dominant dystrophic epidermolysis bullosa; epidermolysis bullosa dystrophica; epidermolysis bullosa with congenital localized absence of skin and deformity of nails; nonsyndromic congenital nail disorder 8; and transient bullous demolysis of the newborn.
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
Mus musculus (house mouse) : Col7a1 (collagen, type VII, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col7a1 (collagen type VII alpha 1 chain)  Alliance
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)
Sus scrofa (pig) : 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


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on COL7A1
Alliance 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: 2019-10-16
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.