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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
Location & Maps
more
  • Sequence Map
    Chr1:75435930-75443179 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7250 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    GMPPA, GDP-mannose pyrophosphorylase A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GMPPA, GDP-mannose pyrophosphorylase A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AAMR
  • Links
    NCBI Gene ID: 29926
    neXtProt AC: NX_Q96IJ6

  • Chr Location
    2q35; chr2:219498865-219506996 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human GMPPA associations

Human Disease Mouse Models
       Alacrima, Achalasia, and Mental Retardation Syndrome; AAMR   OMIM: 615510
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotype references
  • All Mutations and Alleles
    12
  • Chemically induced (other)
    1
  • Gene trapped
    7
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    1
  • Genomic Mutations
    4 involving Gmppa
  • Incidental Mutations
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019424 VEGA Gene Model | MGI Sequence Detail 7250 C57BL/6J ±  kb
transcript OTTMUST00000046364 VEGA | MGI Sequence Detail 1539 Not Applicable  
polypeptide OTTMUSP00000020929 VEGA | MGI Sequence Detail 420 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    83 from dbSNP Build 137
Protein
Information
less
  • UniProt
    10 Sequences
  • Protein Ontology
    PR:000008075 mannose-1-phosphate guanyltransferase alpha
  • InterPro Domains
    IPR001451 Hexapeptide repeat
    IPR018357 Hexapeptide transferase, conserved site
    IPR029044 Nucleotide-diphospho-sugar transferases
    IPR005835 Nucleotidyl transferase domain
Molecular
Reagents
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  • All nucleic 98
    cDNA 97
    Other 1

    Microarray probesets 5
References
more
  • Summaries
    All 30
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 2
    Phenotypes 23
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:206676 Koehler K, et al., Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet. 2013 Oct 3;93(4):727-34

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
01/26/2016
MGI 6.02
The Jackson Laboratory