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 have protein disulfide isomerase activity. Predicted to be involved in protein folding and response to endoplasmic reticulum stress. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Orthologous to several human genes including P4HB (prolyl 4-hydroxylase subunit beta).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With p4hb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Cole-Carpenter syndrome Alliance Cole-Carpenter syndrome 1 112240
Associated With p4hb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017937 Thioredoxin, conserved site
Domain IPR005788 Disulphide isomerase
Domain IPR013766 Thioredoxin domain
Family IPR005792 Protein disulphide isomerase
Homologous_superfamily IPR036249 Thioredoxin-like superfamily
Domain Details Per Protein
Protein Length Disulphide isomerase Protein disulphide isomerase Thioredoxin, conserved site Thioredoxin domain Thioredoxin-like superfamily
UniProtKB:A0A0R4IPV5 509
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations