Gene
col7a1
- ID
- ZDB-GENE-030131-2427
- Name
- collagen, type VII, alpha 1
- Symbol
- col7a1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to act upstream of or within cell adhesion. Predicted to be located in extracellular region. Predicted to be part of collagen type IX trimer. Predicted to be active in extracellular matrix and extracellular space. Is expressed in hypodermis. Human ortholog(s) of this gene implicated in epidermolysis bullosa dystrophica (multiple) and nonsyndromic congenital nail disorder 8. Orthologous to human COL7A1 (collagen type VII alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- 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
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant dystrophic epidermolysis bullosa | Alliance | Epidermolysis bullosa dystrophica, autosomal dominant | 131750 |
| epidermolysis bullosa with congenital localized absence of skin and deformity of nails | Alliance | Epidermolysis bullosa dystrophica, Bart type | 132000 |
| nonsyndromic congenital nail disorder 8 | Alliance | Nail disorder, nonsyndromic congenital, 8 | 607523 |
| pretibial dystrophic epidermolysis bullosa | Alliance | Epidermolysis bullosa, pretibial | 131850 |
| recessive dystrophic epidermolysis bullosa | Alliance | Epidermolysis bullosa dystrophica inversa | 226600 |
| recessive dystrophic epidermolysis bullosa | Alliance | Epidermolysis bullosa dystrophica, autosomal recessive | 226600 |
| recessive dystrophic epidermolysis bullosa | Alliance | Epidermolysis bullosa dystrophica, localisata variant | 226600 |
| transient bullous dermolysis of the newborn | Alliance | Transient bullous of the newborn | 131705 |
| Epidermolysis bullosa pruriginosa | 604129 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col7a1-201
(1)
|
Ensembl | 9,282 nt | ||
| mRNA |
col7a1-202
(1)
|
Ensembl | 10,971 nt | ||
| mRNA |
col7a1-203
(1)
|
Ensembl | 509 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance