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P4hb Gene Detail
Summary
  • Symbol
    P4hb
  • Name
    prolyl 4-hydroxylase, beta polypeptide
  • Synonyms
    ERp59, PDI, Pdia1, protein disulfide isomerase, Thbp
  • Feature Type
    protein coding gene
  • IDs
    MGI:97464
    NCBI Gene: 18453
  • Gene Overview
    MyGene.info: P4HB
Location & Maps
more
  • Sequence Map
    Chr11:120560298-120573253 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12956 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 84.27 cM, cytoband D-E
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    P4HB, prolyl 4-hydroxylase subunit beta
  • Vertebrate Orthologs
    10
  • Human Ortholog
    P4HB, prolyl 4-hydroxylase subunit beta
    Orthology source: HomoloGene
  • Synonyms
    CLCRP1, DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PHDB, PO4DB, PO4HB, PROHB
  • Links
    NCBI Gene ID: 5034
    neXtProt AC: NX_P07237

  • Chr Location
    17q25; chr17:81843158-81860668 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human P4HB associations

Human Disease Mouse Models
       Cole-Carpenter Syndrome 1; CLCRP1   OMIM: 112240
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 3 alleles in 2 genetic backgrounds
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice heterozygous for a knock-out allele and conditional allele activated in immune cells exhibit impaired neutrophil recruitment.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000004095 VEGA Gene Model | MGI Sequence Detail 12956 C57BL/6J ±  kb
transcript OTTMUST00000009214 VEGA | MGI Sequence Detail 2861 Not Applicable  
polypeptide OTTMUSP00000004494 VEGA | MGI Sequence Detail 509 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    92 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 1011
    cDNA 1007
    Primer pair 1
    Other 3

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-13114, MGD-MRK-15082
References
more
  • Summaries
    All 76
    Developmental Gene Expression 6
    Gene Ontology 17
    Phenotypes 13
  • Earliest
    J:9055 Gong QH, et al., Nucleotide sequence of a full-length cDNA clone encoding a mouse cellular thyroid hormone binding protein (p55) that is homologous to protein disulfide isomerase and the beta-subunit of prolyl-4-hydroxylase. Nucleic Acids Res. 1988 Feb 11;16(3):1203
  • Latest
    J:230953 De Maria A, et al., Birc7: A Late Fiber Gene of the Crystalline Lens. Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4823-34

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory