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 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
-
- 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
| 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 |
| Family | IPR050149 | Collagen superfamily |
| 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 superfamily | 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:A0A8M3ATK9
|
3112 | ||||||||||
|
UniProtKB:A0A8M9Q739
|
3080 | ||||||||||
|
UniProtKB:A0A8M9Q0T7
|
3111 |
| 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