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Pgam5 Gene Detail
Summary
  • Symbol
    Pgam5
  • Name
    phosphoglycerate mutase family member 5
  • Synonyms
    2610528A17Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919792
    NCBI Gene: 72542
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:110407001-110417765 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 53.43 cM, cytoband F
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    137 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919792
 protein coding gene Chr5:110406996-110417779 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029883
 protein coding gene Chr5:112703491-112713471 (-)
A/J MGP_AJ_G0029848
 protein coding gene Chr5:108338949-108350653 (-)
AKR/J MGP_AKRJ_G0029786
 protein coding gene Chr5:111787779-111806827 (-)
BALB/cJ MGP_BALBcJ_G0029859
 protein coding gene Chr5:109707298-109716476 (-)
C3H/HeJ MGP_C3HHeJ_G0029579
 protein coding gene Chr5:112213668-112224154 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030312
 protein coding gene Chr5:117149280-117161309 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027541
 protein coding gene Chr5:103164553-103173833 (-)
CAST/EiJ MGP_CASTEiJ_G0028987
 protein coding gene Chr5:111073042-111083770 (-)
CBA/J MGP_CBAJ_G0029546
 protein coding gene Chr5:121552519-121564816 (-)
DBA/2J MGP_DBA2J_G0029696
 protein coding gene Chr5:108403380-108414639 (-)
FVB/NJ MGP_FVBNJ_G0029653
 protein coding gene Chr5:107079546-107087843 (-)
LP/J MGP_LPJ_G0029784
 protein coding gene Chr5:113264144-113274988 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029684
 protein coding gene Chr5:126198692-126215739 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030353
 protein coding gene Chr5:111219717-111229966 (-)
PWK/PhJ MGP_PWKPhJ_G0028701
 protein coding gene Chr5:106993582-107003468 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028539
 protein coding gene Chr5:108687965-108697764 (-)
WSB/EiJ MGP_WSBEiJ_G0029063
 protein coding gene Chr5:111675798-111685841 (-)



Homology
more
  • Human Ortholog
    PGAM5, PGAM family member 5, mitochondrial serine/threonine protein phosphatase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PGAM5, PGAM family member 5, mitochondrial serine/threonine protein phosphatase
  • Synonyms
    BXLBV68
  • Links
    NCBI Gene ID: 192111
    neXtProt AC: NX_Q96HS1
    UniProt: Q96HS1

  • Chr Location
    12q24.33; chr12:132710819-132722734 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 4 alleles in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    32 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.
Homozygotes for a null allele show Parkinson-like movement, dopaminergic neuron loss, and altered mitochondrial homeostasis. Homozygotes for a different null allele are smaller, with males born at sub-Mendelian ratios. Macrophages show impaired inflammasome activation and IL-1beta secretion.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    8
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
non-membrane-bounded 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
    706
  • cDNA Data
    59
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 72542 NCBI Gene Model | MGI Sequence Detail 10765 C57BL/6J ±  kb
    transcript NM_001163538 RefSeq | MGI Sequence Detail 2079 C57BL/6  
    polypeptide Q8BX10 UniProt | EBI | MGI Sequence Detail 288 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 59
      cDNA 59

      Microarray probesets 4
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 1
      Gene Ontology 8
      Phenotypes 32
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:342833 Radaelli E, et al., Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis. Elife. 2023 Jul 28;12
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory