• Gene id: 29926

Gene Summary

• Gene Symbol: GMPPA   Gene   UCSC   Ensembl
• Aliases: AAMR
• Gene name: GDP-mannose pyrophosphorylase A
• Alternate names: mannose-1-phosphate guanyltransferase alpha, GMPP-alpha, GTP-mannose-1-phosphate guanylyltransferase alpha, epididymis secretory sperm binding protein, mannose-1-phosphate guanylyltransferase (GDP),
• Gene location: 2q35 (219498890: 219506988)     Exons: 13     NC_000002.12
• Gene summary(Entrez): This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]
• OMIM: 607713

Protein Summary

• Protein general information: Q96IJ6  
  • Name: Mannose 1 phosphate guanyltransferase alpha (GDP mannose pyrophosphorylase A) (GMPP alpha) (GTP mannose 1 phosphate guanylyltransferase alpha)
  • Length: 420  
  • Mass: 46291
  • Tissue specificity: Expressed in fibroblasts (at protein level). {ECO
• Sequence:

  MLKAVILIGGPQKGTRFRPLSFEVPKPLFPVAGVPMIQHHIEACAQVPGMQEILLIGFYQPDEPLTQFLEAAQQE
  FNLPVRYLQEFAPLGTGGGLYHFRDQILAGSPEAFFVLNADVCSDFPLSAMLEAHRRQRHPFLLLGTTANRTQSL
  NYGCIVENPQTHEVLHYVEKPSTFISDIINCGIYLFSPEALKPLRDVFQRNQQDGQLEDSPGLWPGAGTIRLEQD
  VFSALAGQGQIYVHLTDGIWSQIKSAGSALYASRLYLSRYQDTHPERLAKHTPGGPWIRGNVYIHPTAKVAPSAV
  LGPNVSIGKGVTVGEGVRLRESIVLHGATLQEHTCVLHSIVGWGSTVGRWARVEGTPSDPNPNDPRARMDSESLF
  KDGKLLPAITILGCRVRIPAEVLILNSIVLPHKELSRSFTNQIIL

• Structural information:
  • Interpro: IPR001451  IPR018357  IPR005835  IPR029044  
  • Prosite: PS00101
  • STRING: ENSP00000350949
• Other Databases: GeneCards:  GMPPA  Malacards:  GMPPA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009058	biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism
hsa00051	Fructose and mannose metabolism

Diseases

Associated diseases	References
Achalasia Addisonianism Alacrima syndrome	KEGG:H00257
Achalasia Addisonianism Alacrima syndrome	KEGG:H00257
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881