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 enable procollagen-proline 4-dioxygenase activity. Acts upstream of or within glomerular basement membrane development and pronephric glomerulus development. Predicted to be located in membrane. Predicted to be active in 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 |
| 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 domain | 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