• Gene id: 2762

Gene Summary

• Gene Symbol: GMDS   Gene   UCSC   Ensembl
• Aliases: GMD, SDR3E1
• Gene name: GDP-mannose 4,6-dehydratase
• Alternate names: GDP-mannose 4,6 dehydratase, GDP-D-mannose dehydratase, short chain dehydrogenase/reductase family 3E, member 1,
• Gene location: 6p25.3 (2245604: 1623799)     Exons: 21     NC_000006.12
• Gene summary(Entrez): GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are c
• OMIM: 602884

Protein Summary

• Protein general information: O60547  
  • Name: GDP mannose 4,6 dehydratase (EC 4.2.1.47) (GDP D mannose dehydratase) (GMD)
  • Length: 372  
  • Mass: 41950
• Sequence:

  MAHAPARCPSARGSGDGEMGKPRNVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAH
  IEGNMKLHYGDLTDSTCLVKIINEVKPTEIYNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKF
  YQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKISR
  SVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIVWEG
  KNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQGDCTKAKQKLNWKPRVAFDELVREMVHADVELMRTNPNA

• Structural information:
  • Interpro: IPR006368  IPR016040  IPR036291  
  • PDB: 1T2A 5IN4 5IN5 6GPJ 6GPK 6GPL 6Q94
  • PDBsum: 1T2A 5IN4 5IN5 6GPJ 6GPK 6GPL 6Q94
  • STRING: ENSP00000370194
• Other Databases: GeneCards:  GMDS  Malacards:  GMDS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042351	'de novo' GDP-L-fucose biosynthetic process	IBA	biological process
GO:0008446	GDP-mannose 4,6-dehydratase activity	IBA	molecular function
GO:0019673	GDP-mannose metabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0008446	GDP-mannose 4,6-dehydratase activity	IEA	molecular function
GO:0019673	GDP-mannose metabolic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0008446	GDP-mannose 4,6-dehydratase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0008446	GDP-mannose 4,6-dehydratase activity	TAS	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0042351	'de novo' GDP-L-fucose biosynthetic process	IEA	biological process
GO:0042351	'de novo' GDP-L-fucose biosynthetic process	IDA	biological process
GO:0019673	GDP-mannose metabolic process	IDA	biological process
GO:0005737	cytoplasm	IC	cellular component
GO:0070401	NADP+ binding	IDA	molecular function
GO:0008446	GDP-mannose 4,6-dehydratase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007219	Notch signaling pathway	ISS	biological process
GO:0019673	GDP-mannose metabolic process	IGI	biological process
GO:0008446	GDP-mannose 4,6-dehydratase activity	IGI	molecular function

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
open-angle glaucoma	PMID:25173105
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray