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Pmm1 Gene Detail
Summary
  • Symbol
    Pmm1
  • Name
    phosphomannomutase 1
  • Synonyms
    Secp53 (yeast) homolog
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353418
    NCBI Gene: 29858
  • Gene Overview
    MyGene.info: PMM1
Location & Maps
more
  • Sequence Map
    Chr15:81951108-81960930 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9823 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 38.30 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PMM1, phosphomannomutase 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PMM1, phosphomannomutase 1
    Orthology source: HomoloGene
  • Synonyms
    Sec53
  • Links
    NCBI Gene ID: 5372
    neXtProt AC: NX_Q92871

  • Chr Location
    22q13.2; chr22:41576886-41589867 (-)  GRCh38.p2

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    29 phenotype references
  • All Mutations and Alleles
    35
  • Chemically induced (other)
    1
  • Gene trapped
    29
  • Radiation induced
    2
  • Targeted
    3
  • Genomic Mutations
    3 involving Pmm1
  • Incidental Mutations
    APF
Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable motor dysfunction or histological abnormalities in major organ systems and no evidence of abnormal glycosylation patterns.
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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028155 VEGA Gene Model | MGI Sequence Detail 9823 C57BL/6J ±  kb
transcript OTTMUST00000069739 VEGA | MGI Sequence Detail 1300 Not Applicable  
polypeptide OTTMUSP00000035466 VEGA | MGI Sequence Detail 262 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    92 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 70
    Genomic 1
    cDNA 68
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2146277
References
more
  • Summaries
    All 39
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 4
    Phenotypes 29
  • Earliest
    J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):737-50
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory