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Ppox Gene Detail
Summary
  • Symbol
    Ppox
  • Name
    protoporphyrinogen oxidase
  • Feature Type
    protein coding gene
  • IDs
    MGI:104968
    NCBI Gene: 19044
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:171104564-171108955 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 79.30 cM, cytoband H2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    168 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104968
 protein coding gene Chr1:171103563-171108955 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016752
 protein coding gene Chr1:177063191-177068375 (-)
A/J MGP_AJ_G0016732
 protein coding gene Chr1:169856849-169862022 (-)
AKR/J MGP_AKRJ_G0016698
 protein coding gene Chr1:174946972-174952169 (-)
BALB/cJ MGP_BALBcJ_G0016693
 protein coding gene Chr1:170344152-170349336 (-)
C3H/HeJ MGP_C3HHeJ_G0016516
 protein coding gene Chr1:175190088-175195272 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017154
 protein coding gene Chr1:182949374-182954571 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014862
 protein coding gene Chr1:161538016-161543188 (-)
CAST/EiJ MGP_CASTEiJ_G0016097
 protein coding gene Chr1:174820377-174825573 (-)
CBA/J MGP_CBAJ_G0016491
 protein coding gene Chr1:189462004-189467188 (-)
DBA/2J MGP_DBA2J_G0016598
 protein coding gene Chr1:168697104-168702288 (-)
FVB/NJ MGP_FVBNJ_G0016594
 protein coding gene Chr1:167044595-167049768 (-)
LP/J MGP_LPJ_G0016669
 protein coding gene Chr1:178182757-178187941 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016621
 protein coding gene Chr1:196745523-196750725 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017191
 protein coding gene Chr1:174815740-174820913 (-)
PWK/PhJ MGP_PWKPhJ_G0015883
 protein coding gene Chr1:167919559-167924732 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015667
 protein coding gene Chr1:173600252-173605455 (-)
WSB/EiJ MGP_WSBEiJ_G0016159
 protein coding gene Chr1:174932427-174937596 (-)



Homology
more
  • Human Ortholog
    PPOX, protoporphyrinogen oxidase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PPOX, protoporphyrinogen oxidase
  • Synonyms
    PPO, V290M, VP, VPCO
  • Links
    NCBI Gene ID: 5498
    neXtProt AC: NX_P50336
    UniProt: P50336

  • Chr Location
    1q23.3; chr1:161165728-161178013 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ppox mouse models; 1 with human PPOX associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 3 alleles in 2 genetic backgrounds
    10 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 the R59W knock-in mutation exhibit elevated stool porphyrin levels and reduced hepatic protoporphyrinogen oxidase activity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    16
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
less
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
    847
  • Tissues
    138
  • cDNA Data
    10
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19044 NCBI Gene Model | MGI Sequence Detail 4392 C57BL/6J ±  kb
    transcript NM_008911 RefSeq | MGI Sequence Detail 1821 C57BL/6  
    polypeptide P51175 UniProt | EBI | MGI Sequence Detail 477 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 10
      Primer pair 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-31041
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 16
      Phenotypes 10
    • Earliest
      J:341419 Deybach JC, et al., The mitochondrial location of protoporphyrinogen oxidase. Eur J Biochem. 1985 Jun 3;149(2):431-5
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory