• Gene id: 29925

Gene Summary

• Gene Symbol: GMPPB   Gene   UCSC   Ensembl
• Aliases: LGMDR19, MDDGA14, MDDGB14, MDDGC14
• Gene name: GDP-mannose pyrophosphorylase B
• Alternate names: mannose-1-phosphate guanyltransferase beta, GTP-mannose-1-phosphate guanylyltransferase beta,
• Gene location: 3p21.31 (49723973: 49719915)     Exons: 9     NC_000003.12
• Gene summary(Entrez): This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcrip
• OMIM: 604283

Protein Summary

• Protein general information: Q9Y5P6  
  • Name: Mannose 1 phosphate guanyltransferase beta (EC 2.7.7.13) (GDP mannose pyrophosphorylase B) (GTP mannose 1 phosphate guanylyltransferase beta)
  • Length: 360  
  • Mass: 39834
• Sequence:

  MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRI
  SMSHEEEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCE
  ADTGRIHRFVEKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDF
  LTGMCLFLQSLRQKQPERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSH
  SWLESCIVGWRCRVGQWVRMENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM

• Structural information:
  • Interpro: IPR001451  IPR018357  IPR005835  IPR029044  
  • Prosite: PS00101
  • STRING: ENSP00000309092
• Other Databases: GeneCards:  GMPPB  Malacards:  GMPPB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0009298	GDP-mannose biosynthetic process	IMP	biological process
GO:0009058	biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004475	mannose-1-phosphate guanylyltransferase activity	IEA	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:0009298	GDP-mannose biosynthetic process	IEA	biological process

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
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Muscular dystrophy-dystroglycanopathy	PMID:26310427
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