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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
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:120451124-120464079 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 84.27 cM, cytoband D-E
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    328 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97464
 protein coding gene Chr11:120451124-120464079 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019510
 protein coding gene Chr11:125029518-125042474 (-)
A/J MGP_AJ_G0019478
 protein coding gene Chr11:119469572-119482232 (-)
AKR/J MGP_AKRJ_G0019448
 protein coding gene Chr11:123064462-123077439 (-)
BALB/cJ MGP_BALBcJ_G0019453
 protein coding gene Chr11:119825192-119838003 (-)
C3H/HeJ MGP_C3HHeJ_G0019259
 protein coding gene Chr11:123400510-123413351 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019901
 protein coding gene Chr11:128817847-128833420 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017527
 protein coding gene Chr11:116461191-116473597 (-)
CAST/EiJ MGP_CASTEiJ_G0018813
 protein coding gene Chr11:124895353-124911111 (-)
CBA/J MGP_CBAJ_G0019230
 protein coding gene Chr11:133856893-133869695 (-)
DBA/2J MGP_DBA2J_G0019342
 protein coding gene Chr11:118838551-118851350 (-)
FVB/NJ MGP_FVBNJ_G0019334
 protein coding gene Chr11:118550753-118563377 (-)
LP/J MGP_LPJ_G0019414
 protein coding gene Chr11:125335292-125348122 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019367
 protein coding gene Chr11:132692319-132706210 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019941
 protein coding gene Chr11:123752344-123765980 (-)
PWK/PhJ MGP_PWKPhJ_G0018579
 protein coding gene Chr11:120274100-120287139 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018371
 protein coding gene Chr11:123513027-123526490 (-)
WSB/EiJ MGP_WSBEiJ_G0018865
 protein coding gene Chr11:123742117-123754963 (-)



Homology
more
  • Human Ortholog
    P4HB, prolyl 4-hydroxylase subunit beta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    P4HB, prolyl 4-hydroxylase subunit beta
  • Synonyms
    CLCRP1, DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PHDB, PO4DB, PO4HB, PROHB
  • Links
    NCBI Gene ID: 5034
    neXtProt AC: NX_P07237
    UniProt: P07237

  • Chr Location
    17q25.3; chr17:81843159-81860856 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human P4HB associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 3 alleles in 5 genetic backgrounds
    26 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
    59
  • GO References
    23
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    892
  • Tissues
    127
  • cDNA Data
    1007
  • Literature Summary
    18
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 18453 NCBI Gene Model | MGI Sequence Detail 12956 C57BL/6J ±  kb
transcript NM_011032 RefSeq | MGI Sequence Detail 2884 ZRU/MplStud  
polypeptide P09103 UniProt | EBI | MGI Sequence Detail 509 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 1014
    cDNA 1008
    Primer pair 3
    Other 3

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-13114, MGD-MRK-15082
References
more
  • Summaries
    All 115
    Developmental Gene Expression 18
    Gene Ontology 23
    Phenotypes 26
  • 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:345662 Chen Z, et al., Conditional hepatocyte ablation of PDIA1 uncovers indispensable roles in both APOB and MTTP folding to support VLDL secretion. Mol Metab. 2024 Feb;80:101874
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory