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 endoplasmic reticulum 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
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-p4htmb | N/A | Hyvarinen et al., 2010 |
| MO2-p4htmb | N/A | Hyvarinen et al., 2010 |
| MO3-p4htmb | N/A | Hyvarinen et al., 2010 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 618493 |
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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 |
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Domain Details Per Protein
| Protein | Additional Resources | 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 | InterPro | 510 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-157B11 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001340198 (1) | 3097 nt | ||
| Genomic | GenBank:CR450814 (1) | 158142 nt | ||
| Polypeptide | UniProtKB:X1WG80 (1) | 510 aa |
- Ma, Y., Wu, Y., Xia, Z., Li, J., Li, X., Xu, P., Zhou, X., Xue, M. (2019) Anti-Hypoxic Molecular Mechanisms of Rhodiola crenulata Extract in Zebrafish as Revealed by Metabonomics. Frontiers in pharmacology. 10:1356
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Hyvarinen, J., Parikka, M., Sormunen, R., Ramet, M., Tryggvason, K., Kivirikko, K.I., Myllyharju, J., and Koivunen, P. (2010) Deficiency of a transmembrane prolyl 4-hydroxylase in the zebrafish leads to basement membrane defects and compromised kidney function. The Journal of biological chemistry. 285(53):42023-42032
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