ZFIN ID: ZDB-GENE-080610-1
Gene Name: prolyl 4-hydroxylase, beta polypeptide
Gene Symbol: p4hb    Nomenclature History

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(Including Attributions)
Gene 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: Alliance (1),  Gene:406673 (1),  Ensembl(GRCz11):ENSDARG00000105116 (1)
GENE EXPRESSION
High Throughput Expression: GEO (1) Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa11106 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa26724 Point Mutation Unknown Premature Stop ENU
    sa31506 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    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
    DISEASE ASSOCIATED WITH p4hb VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process cell redox homeostasis (more)
    Cellular Component endoplasmic reticulum (more)
    Molecular Function isomerase activity (more)
    GO Terms (all 6)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA p4hb-201 (1)    Ensembl 2852
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM p4hb No data available
    MARKER RELATIONSHIPS
    p4hb Contained in: [BAC] DKEY-237I9 (1) (order this)
    p4hb Has Artifact: [cDNA] MGC:92596 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_213364 (1) 2853 nt
    Genomic GenBank:BX005286 (1) 178225 nt
    Select Tool
    Polypeptide UniProtKB:A0A0R4IPV5 (1) 509 aa
    Sequence Information (all 9)
    ORTHOLOGY for p4hb ( Chr: 6 )
    CITATIONS (21)