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Gene: COL7A1 (collagen type VII alpha 1 chain) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

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
Alliance Gene
NCBI 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



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