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P3h1 Gene Detail
Summary
  • Symbol
    P3h1
  • Name
    prolyl 3-hydroxylase 1
  • Synonyms
    2410024C15Rik, Gros1, Lepre1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1888921
    NCBI Gene: 56401
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr4:119232915-119248975 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16061 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 55.34 cM, cytoband D1
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    P3H1, prolyl 3-hydroxylase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    P3H1, prolyl 3-hydroxylase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    GROS1, LEPRE1, OI8
  • Links
    NCBI Gene ID: 64175
    neXtProt AC: NX_Q32P28
    UniProt: Q32P28

  • Chr Location
    1p34.2; chr1:42746335-42767084 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 10509
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: P3H1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with P3h1 mouse models; 1 with human P3H1 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    24 phenotypes from 3 alleles in 3 genetic backgrounds
    5 images
    22 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 homozygous for a knock-out allele exhibit reduced size, disproportional reduction in long bone length, decreased bone density, decreased bone mineral density, reduced body fat, delayed ossification, and abnormal collagen networks in the skin and tendons.
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 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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000009225 VEGA Gene Model | MGI Sequence Detail 16061 C57BL/6J ±  kb
    transcript OTTMUST00000020882 VEGA | MGI Sequence Detail 2977 Not Applicable  
    polypeptide OTTMUSP00000009572 VEGA | MGI Sequence Detail 748 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      151 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • EC
    • InterPro Domains
      IPR005123 Oxoglutarate/iron-dependent dioxygenase
      IPR006620 Prolyl 4-hydroxylase, alpha subunit
      IPR011990 Tetratricopeptide-like helical domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 66
      cDNA 64
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1919438
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 9
      Phenotypes 22
    • Earliest
      J:95868 Wassenhove-McCarthy DJ, et al., Molecular characterization of a novel basement membrane-associated proteoglycan, leprecan. J Biol Chem. 1999 Aug 27;274(35):25004-17
    • Latest
      J:230866 Fratzl-Zelman N, et al., Bone matrix hypermineralization in prolyl-3 hydroxylase 1 deficient mice. Bone. 2016 Apr;85:15-22

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory