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Pgm1 Gene Detail
Summary
  • Symbol
    Pgm1
  • Name
    phosphoglucomutase 1
  • Synonyms
    2610020G18Rik, Pgm1a, Pgm-2, Pgm2
  • Feature Type
    protein coding gene
  • IDs
    MGI:97565
    NCBI Gene: 72157
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:99786648-99844491 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 45.71 cM
  • Mapping Data
    23 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1867 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97565
 protein coding gene Chr4:99786611-99844491 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028485
 protein coding gene Chr4:100171915-100232552 (+)
A/J MGP_AJ_G0028448
 protein coding gene Chr4:96672016-96734787 (+)
AKR/J MGP_AKRJ_G0028395
 protein coding gene Chr4:99015054-99073779 (+)
BALB/cJ MGP_BALBcJ_G0028466
 protein coding gene Chr4:96925628-96982745 (+)
C3H/HeJ MGP_C3HHeJ_G0028179
 protein coding gene Chr4:99840306-99900134 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028905
 protein coding gene Chr4:103972505-104031833 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026197
 protein coding gene Chr4:92040028-92097028 (+)
CAST/EiJ MGP_CASTEiJ_G0027619
 protein coding gene Chr4:97619899-97715593 (+)
CBA/J MGP_CBAJ_G0028148
 protein coding gene Chr4:107205770-107276887 (+)
DBA/2J MGP_DBA2J_G0028298
 protein coding gene Chr4:96392296-96449437 (+)
FVB/NJ MGP_FVBNJ_G0028265
 protein coding gene Chr4:95238557-95299308 (+)
LP/J MGP_LPJ_G0028398
 protein coding gene Chr4:100482088-100544232 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028293
 protein coding gene Chr4:112843225-112904344 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028943
 protein coding gene Chr4:99265369-99326395 (+)
PWK/PhJ MGP_PWKPhJ_G0027344
 protein coding gene Chr4:94549184-94604762 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027166
 protein coding gene Chr4:96720719-96786402 (+)
WSB/EiJ MGP_WSBEiJ_G0027697
 protein coding gene Chr4:99431722-99494224 (+)



Homology
more
  • Human Ortholog
    PGM1, phosphoglucomutase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PGM1, phosphoglucomutase 1
  • Synonyms
    CDG1T, GSD14
  • Links
    NCBI Gene ID: 5236
    neXtProt AC: NX_P36871
    UniProt: P36871

  • Chr Location
    1p31.3; chr1:63593411-63660245 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human PGM1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    15 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.
Homozygous knockout is embryonic lethal, while heterozygous KO leads to reduced viability.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    12
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
    808
  • Tissues
    99
  • cDNA Data
    197
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 72157 NCBI Gene Model | MGI Sequence Detail 57844 C57BL/6J ±  kb
    transcript NM_001429271 RefSeq | MGI Sequence Detail 2546 C57BL/6  
    polypeptide Q9D0F9 UniProt | EBI | MGI Sequence Detail 562 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • Protein Ontology
      PR:000012614 phosphoglucomutase-1
      (term hierarchy)
    • EC
      5.4.2.2
    • InterPro Domains
      IPR005844 Alpha-D-phosphohexomutase, alpha/beta/alpha domain I
      IPR005845 Alpha-D-phosphohexomutase, alpha/beta/alpha domain II
      IPR005846 Alpha-D-phosphohexomutase, alpha/beta/alpha domain III
      IPR016055 Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III
      IPR016066 Alpha-D-phosphohexomutase, conserved site
      IPR036900 Alpha-D-phosphohexomutase, C-terminal domain superfamily
      IPR005841 Alpha-D-phosphohexomutase superfamily
      IPR045244 Phosphoglucomutase
    • GlyGen
      Q9D0F9 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 199
      cDNA 198
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13276, MGD-MRK-13279, MGI:1919407, MGI:2140115, MGI:2140187, MGI:6194611, MGI:6194613
    References
    more
    • Summaries
      All 91
      Developmental Gene Expression 9
      Gene Ontology 12
      Phenotypes 15
    • Earliest
      J:11944 Shows TB, et al., Evolutionary evidence for a regulator gene controlling the lactate dehydrogenase B gene in rodent erythrocytes. Biochem Genet. 1969 Dec;3(6):525-36
    • 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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory