ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- 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
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0AB32TT84 | InterPro | 2967 |
| UniProtKB:A0AB32TXM4 | InterPro | 2967 |
| UniProtKB:A0AC58JVD7 | InterPro | 3109 |
| UniProtKB:A0AC58JVE1 | InterPro | 3108 |
| UniProtKB:A0AC58JVF0 | InterPro | 3112 |
| UniProtKB:A0AC58JVI3 | InterPro | 3109 |
- Genome Browsers
| 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
- Genome Browsers
- Comparative Orthology
- Alliance