Gene
p4htmb
- ID
- ZDB-GENE-110131-7
- Name
- prolyl 4-hydroxylase, transmembrane b
- Symbol
- p4htmb Nomenclature History
- Previous Names
-
- P4H-TM (1)
- p4htm
- si:ch211-157b11.10
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to contribute to procollagen-proline 4-dioxygenase activity. Involved in glomerular basement membrane development and pronephric glomerulus development. Predicted to localize to endoplasmic reticulum. Is expressed in several structures, including heart; integument; liver; nervous system; and pleuroperitoneal region. Orthologous to human P4HTM (prolyl 4-hydroxylase, transmembrane).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Hyvarinen et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Hyvarinen et al., 2010
- 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 | IPR002048 | EF-hand domain |
| 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 | 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:X1WG80
|
510 |
Interactions and Pathways
No data available
Plasmids
No data available