Gene
p4htma
- ID
- ZDB-GENE-070112-2222
- Name
- prolyl 4-hydroxylase, transmembrane a
- Symbol
- p4htma Nomenclature History
- Previous Names
-
- zgc:158254
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to contribute to procollagen-proline 4-dioxygenase activity. Predicted to be involved in peptidyl-proline hydroxylation to 4-hydroxy-L-proline. Predicted to localize to endoplasmic reticulum.
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 618493 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR005123 | Oxoglutarate/iron-dependent dioxygenase |
| Domain | IPR006620 | Prolyl 4-hydroxylase, alpha subunit |
| Domain | IPR044862 | Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain |
| Family | IPR045054 | Prolyl 4-hydroxylase |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
Domain Details Per Protein
| Protein | Length | EF-Hand 1, calcium-binding site | EF-hand domain pair | Oxoglutarate/iron-dependent dioxygenase | Prolyl 4-hydroxylase | Prolyl 4-hydroxylase, alpha subunit | Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A1L1Q9
|
478 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
zgc:158254-201
(1)
|
Havana | 2348 nt |
Interactions and Pathways
No data available
Plasmids
No data available