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; OTTHUMP00000164822
Orthologs:
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Genome Assembly GRCh38348,564,073 - 48,595,160-NCBI
Human Alternate Assembly CHM1_1348,553,813 - 48,584,903-NCBI
Human Genome Assembly HuRef348,659,828 - 48,690,843-NCBI
Human Genome Assembly GRCh37348,601,506 - 48,632,593-NCBI
Human Celera Assembly348,557,241 - 48,588,335-NCBI
Human Genome Assembly Build 36348,576,510 - 48,607,597-NCBI
Human Cytogenetic Map3p21.1 NCBI
Human Genome Assembly348,576,509 - 48,607,689 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


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

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on COL7A1
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1322869
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2014-10-22
Status: ACTIVE