help  | about  | cite  | software

Gene : COL7A1 Homo sapiens
Name  ? collagen type VII alpha 1 chain Cytological Location  3p21.31
Brief Description  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]
  • synonyms:
  • COL7A1,
  • EBD1,
  • collagen, type VII, alpha 1,
  • epidermolysis bullosa, dystrophic, dominant and recessive,
  • NM_000094,
  • L02870,
  • EBR1,
  • EBDCT,
  • uc003ctz.3,
  • EBD1,
  • EBDCT,
  • collagen VII, alpha-1 polypeptide,
  • EBR1,
  • LC collagen,
  • NDNC8,
  • OTTHUMG00000133541,
  • HGNC:2214
  • identifiers:
  • 1294,
  • ENSG00000114270,
  • COL7A1

Genome feature

Region: gene ? Length: 31257  
Location: 3:48564073-48595329 reverse strand Cyto location: 3p21.31


Paste the following link

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

19 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

7 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

19 Pathways

72 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results





Funding: InterMine has been developed principally through support of the Wellcome Trust. Complementary projects have been funded by the NIH/NHGRI and the BBSRC.

An ELIXIR-UK resource

© 2002 - 2019 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom