Gene
p4hb
- ID
- ZDB-GENE-080610-1
- Name
- prolyl 4-hydroxylase, beta polypeptide
- Symbol
- p4hb Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable protein disulfide isomerase activity. Predicted to be involved in protein folding and response to endoplasmic reticulum stress. Predicted to be located in endoplasmic reticulum lumen and plasma membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Orthologous to human P4HB (prolyl 4-hydroxylase subunit beta).
- 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 |
|---|---|---|---|
| Cole-Carpenter syndrome | Alliance | Cole-Carpenter syndrome 1 | 112240 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Protein disulfide-isomerase, thioredoxin-like domain | Protein disulphide isomerase | Thioredoxin, conserved site | Thioredoxin domain | Thioredoxin-like superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A0R4IPV5 | InterPro | 509 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Uszczynska-Ratajczak, B., Sugunan, S., Kwiatkowska, M., Migdal, M., Carbonell-Sala, S., Sokol, A., Winata, C.L., Chacinska, A. (2022) Profiling subcellular localization of nuclear-encoded mitochondrial gene products in zebrafish. Life science alliance. 6(1):
- Xu, B., Tang, X., Jin, M., Zhang, H., Du, L., Yu, S., He, J. (2020) Unifying Developmental Programs for Embryonic and Post-Embryonic Neurogenesis in the Zebrafish Retina. Development (Cambridge, England). 147(12):
- Giffen, K.P., Liu, H., Kramer, K.L., He, D.Z. (2019) Expression of Protein-Coding Gene Orthologs in Zebrafish and Mouse Inner Ear Non-sensory Supporting Cells. Frontiers in neuroscience. 13:1117
- Kulatunga, D.C.M., Dananjaya, S.H.S., Nikapitiya, C., Godahewa, G.I., Cho, J., Kim, C.H., Lee, J., De Zoysa, M. (2018) Stress-immune responses and DNA protection function of thioredoxin domain containing 12 in zebrafish (Danio rerio). Fish & shellfish immunology. 84:1030-1040
- Cao, J., Navis, A., Cox, B.D., Dickson, A.L., Gemberling, M., Karra, R., Bagnat, M., Poss, K.D. (2016) Single epicardial cell transcriptome sequencing identifies Caveolin-1 as an essential factor in zebrafish heart regeneration. Development (Cambridge, England). 143(2):232-43
- Hagenaars, A., Vergauwen, L., Benoot, D., Laukens, K., and Knapen, D. (2013) Mechanistic toxicity study of perfluorooctanoic acid in zebrafish suggests mitochondrial dysfunction to play a key role in PFOA toxicity. Chemosphere. 91(6):844-56
- Tsedensodnom, O., Vacaru, A.M., Howarth, D.L., Yin, C., and Sadler, K.C. (2013) Ethanol metabolism and oxidative stress are required for unfolded protein response activation and steatosis in zebrafish with alcoholic liver disease. Disease models & mechanisms. 6(5):1213-26
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