Gene

col7a1

ID
ZDB-GENE-030131-2427
Name
collagen, type VII, alpha 1
Symbol
col7a1 Nomenclature History
Previous Names
  • col7a1a (1)
  • fc07e08
  • wu:fc07e08 (1)
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Predicted to have serine-type endopeptidase inhibitor activity. Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene 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 dermolysis of the newborn. Is expressed in hypodermis. Orthologous to human COL7A1 (collagen type VII alpha 1 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Li et al., 2011
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col7a1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant dystrophic epidermolysis bullosa Alliance Epidermolysis bullosa dystrophica, AD 131750
epidermolysis bullosa with congenital localized absence of skin and deformity of nails Alliance EBD, Bart type 132000
nonsyndromic congenital nail disorder 8 Alliance Toenail dystrophy, isolated 607523
pretibial dystrophic epidermolysis bullosa Alliance Epidermolysis bullosa, pretibial 131850
recessive dystrophic epidermolysis bullosa Alliance EBD inversa 226600
recessive dystrophic epidermolysis bullosa Alliance Epidermolysis bullosa dystrophica, AR 226600
transient bullous dermolysis of the newborn Alliance Transient bullous of the newborn 131705
EBD, localisata variant
Epidermolysis bullosa pruriginosa 604129
Associated With col7a1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR020901 Proteinase inhibitor I2, Kunitz, conserved site
Domain IPR002035 von Willebrand factor, type A
Domain IPR002223 Pancreatic trypsin inhibitor Kunitz domain
Domain IPR003961 Fibronectin type III
Homologous_superfamily IPR013783 Immunoglobulin-like fold
Homologous_superfamily IPR036116 Fibronectin type III superfamily
Homologous_superfamily IPR036465 von Willebrand factor A-like domain superfamily
Homologous_superfamily IPR036880 Pancreatic trypsin inhibitor Kunitz domain superfamily
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen triple helix repeat Fibronectin type III Fibronectin type III superfamily Immunoglobulin-like fold Pancreatic trypsin inhibitor Kunitz domain Pancreatic trypsin inhibitor Kunitz domain superfamily Proteinase inhibitor I2, Kunitz, conserved site von Willebrand factor A-like domain superfamily von Willebrand factor, type A
UniProtKB:E7FA40 3093
UniProtKB:X1WHK5 160
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations