GMPPA (GDP-mannose pyrophosphorylase A)

2014-11-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
AAMR

Other Information

Locus ID:

NCBI: 29926
MIM: 615495
HGNC: 22923
Ensembl: ENSG00000144591

Variants:

dbSNP: 29926
ClinVar: 29926
TCGA: ENSG00000144591
COSMIC: GMPPA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144591ENST00000313597Q96IJ6
ENSG00000144591ENST00000313597A0A024R482
ENSG00000144591ENST00000341142Q96IJ6
ENSG00000144591ENST00000341142A0A024R482
ENSG00000144591ENST00000358215Q96IJ6
ENSG00000144591ENST00000358215A0A024R482
ENSG00000144591ENST00000373908Q96IJ6
ENSG00000144591ENST00000373908A0A024R482
ENSG00000144591ENST00000373917Q96IJ6
ENSG00000144591ENST00000435316C9JAH0
ENSG00000144591ENST00000443704F8WD54
ENSG00000144591ENST00000455657C9J255
ENSG00000144591ENST00000480034A0A0U1RRC2
ENSG00000144591ENST00000622191A0A087WUI8

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Fructose and mannose metabolismKEGGko00051
Amino sugar and nucleotide sugar metabolismKEGGko00520
Fructose and mannose metabolismKEGGhsa00051
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Nucleotide sugar biosynthesis, eukaryotesKEGGhsa_M00361
Nucleotide sugar biosynthesis, eukaryotesKEGGM00361
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Synthesis of GDP-mannoseREACTOMER-HSA-446205

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
240351932013Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.10
285742182017A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.3

Citation

Dessen P

GMPPA (GDP-mannose pyrophosphorylase A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63856/gmppa