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Gmppa
Gene Detail
 Symbol
Name
ID
Gmppa
GDP-mannose pyrophosphorylase A
MGI:1916330
Synonyms 1810012N01Rik
Feature Type protein coding gene
Genetic Map
Chromosome 1
39.04 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr1:75435930-75443179 bp, + strand
From VEGA annotation of GRCm38

  7250 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:8346  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: glucose-1-phosphate adenylyltransferase
Gene Tree: Gmppa

Human
homologs
Human Homolog GMPPA, GDP-mannose pyrophosphorylase A
NCBI Gene ID 29926
neXtProt AC  NX_Q96IJ6
Human Synonyms  AAMR
Human Chr (Location)  2q35; chr2:219498865-219506996 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human GMPPA
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(7) Spontaneous(1) Targeted(1)
Genomic Mutations involving Gmppa (1)
Incidental mutations (data from Mutagenetix , APF )
Alleles Annotated to Human Diseases(1)   
Interactions
Gmppa interacts with 46 markers (Mir23a, Mir30a, Mir30b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (4 annotations)
Process biosynthetic process
Component cytoplasm
Function nucleotidyltransferase activity, transferase activity
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (137)    Tissues (123)    Images (13)
Theiler Stages: 19, 22, 23, 28
Assay TypeResults
RNA in situ 137
cDNA source data(97)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(97) cDNA(97)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000019424 (Evidence)
Ensembl Gene ModelENSMUSG00000033021 (Evidence)
Entrez Gene69080 (Evidence)
UniGene23951
DFCITC1576206, TC1644182, TC1692315
DoTSDT.101131119, DT.103599058, DT.110917782, DT.528866, DT.532463, DT.94405771
NIA Mouse Gene IndexU000474
Consensus CDS ProjectCCDS15072.1
International Mouse Knockout Project StatusGmppa
Sequences
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 sequences
All sequences(108) RefSeq(22) UniProt(9)
Polymorphisms SNPs within 2kb(83 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001451 Bacterial transferase hexapeptide repeat
InterPro IPR018357 Hexapeptide transferase, conserved site
InterPro IPR005835 Nucleotidyl transferase
Protein Ontology PR:000008075 mannose-1-phosphate guanyltransferase alpha
References (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
All references(35)

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
08/19/2014
MGI 5.19
The Jackson Laboratory