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Gmppa Gene Detail
Summary
  • Symbol
    Gmppa
  • Name
    GDP-mannose pyrophosphorylase A
  • Synonyms
    1810012N01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916330
    NCBI Gene: 69080
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:75412574-75419823 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 1, 39.04 cM, cytoband C3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    83 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916330
protein coding gene Chr1:75412555-75419823 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016187
protein coding gene Chr1:76008606-76015894 (+)
A/J MGP_AJ_G0016170
protein coding gene Chr1:73359024-73366287 (+)
AKR/J MGP_AKRJ_G0016127
protein coding gene Chr1:75395070-75402352 (+)
BALB/cJ MGP_BALBcJ_G0016125
protein coding gene Chr1:73422294-73429598 (+)
C3H/HeJ MGP_C3HHeJ_G0015956
protein coding gene Chr1:75725326-75732605 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016578
protein coding gene Chr1:78957930-78967194 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014299
protein coding gene Chr1:68918213-68925479 (+)
CAST/EiJ MGP_CASTEiJ_G0015540
protein coding gene Chr1:75070573-75077880 (+)
CBA/J MGP_CBAJ_G0015929
protein coding gene Chr1:81525354-81538351 (+)
DBA/2J MGP_DBA2J_G0016030
protein coding gene Chr1:72678581-72686486 (+)
FVB/NJ MGP_FVBNJ_G0016033
protein coding gene Chr1:71883101-71890328 (+)
LP/J MGP_LPJ_G0016102
protein coding gene Chr1:77134283-77141549 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016053
protein coding gene Chr1:84875635-84884161 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016625
protein coding gene Chr1:75461392-75469848 (+)
PWK/PhJ MGP_PWKPhJ_G0015327
protein coding gene Chr1:72154923-72162280 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015105
protein coding gene Chr1:74820152-74827411 (+)
WSB/EiJ MGP_WSBEiJ_G0015602
protein coding gene Chr1:75272686-75279906 (+)



Homology
more
  • Human Ortholog
    GMPPA, GDP-mannose pyrophosphorylase A
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GMPPA, GDP-mannose pyrophosphorylase A
  • Synonyms
    AAMR
  • Links
    NCBI Gene ID: 29926
    neXtProt AC: NX_Q96IJ6
    UniProt: Q96IJ6

  • Chr Location
    2q35; chr2:219498865-219513898 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with Gmppa mouse models; 1 with human GMPPA 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
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 2 alleles in 2 genetic backgrounds
    28 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 null allele exhibit cortical layer defects, progressive neuron loss, myopathic alterations, progressive muscle weakness, cognitive impairments, and increased serum mannose levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000033021 Ensembl Gene Model | MGI Sequence Detail 7250 C57BL/6J ±  kb
    transcript ENSMUST00000037796 Ensembl | MGI Sequence Detail 1539 Not Applicable  
    polypeptide ENSMUSP00000035564 Ensembl | MGI Sequence Detail 420 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 100
      cDNA 99
      Other 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 3
      Phenotypes 28
    • 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:305791 Franzka P, et al., GMPPA defects cause a neuromuscular disorder with alpha-dystroglycan hyperglycosylation. J Clin Invest. 2021 May 3;131(9)

    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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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory