Gene: COL7A1 (collagen type VII alpha 1) Homo sapiens
Symbol: COL7A1
Name: collagen type VII alpha 1
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 VII, alpha-1 polypeptide; EBD1; EBDCT; EBR1; LC collagen; long chain collagen; long-chain collagen; NDNC8; OTTHUMP00000164822
Orthologs:
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38348,564,073 - 48,595,302 (-)NCBIGRCh38hg38GRCh38
GRCh37348,601,506 - 48,632,593 (-)NCBIGRCh37hg19GRCh37
Build 36348,576,510 - 48,607,597 (-)NCBINCBI36hg18NCBI36
Build 34348,576,509 - 48,607,689NCBI
Celera348,557,241 - 48,588,335 (-)NCBI
Cytogenetic Map3p21.1NCBImapview
HuRef348,659,828 - 48,690,843 (-)NCBI
CHM1_1348,553,813 - 48,584,903 (-)NCBI
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on COL7A1
Entrez Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1322869
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2016-05-10
Status: ACTIVE