• Gene id: 10007

Gene Summary

• Gene Symbol: GNPDA1   Gene   UCSC   Ensembl
• Aliases: GNP1, GNPDA, GNPI, GPI, HLN
• Gene name: glucosamine-6-phosphate deaminase 1
• Alternate names: glucosamine-6-phosphate isomerase 1, GNPDA 1, glcN6P deaminase 1, oscillin,
• Gene location: 5q31.3 (142013026: 142000670)     Exons: 9     NC_000005.10
• Gene summary(Entrez): Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010]
• OMIM: 601798

Protein Summary

• Protein general information: P46926  
  • Name: Glucosamine 6 phosphate isomerase 1 (EC 3.5.99.6) (Glucosamine 6 phosphate deaminase 1) (GNPDA 1) (GlcN6P deaminase 1) (Oscillin)
  • Length: 289  
  • Mass: 32669
• Sequence:

  MKLIILEHYSQASEWAAKYIRNRIIQFNPGPEKYFTLGLPTGSTPLGCYKKLIEYYKNGDLSFKYVKTFNMDEYV
  GLPRDHPESYHSFMWNNFFKHIDIHPENTHILDGNAVDLQAECDAFEEKIKAAGGIELFVGGIGPDGHIAFNEPG
  SSLVSRTRVKTLAMDTILANARFFDGELTKVPTMALTVGVGTVMDAREVMILITGAHKAFALYKAIEEGVNHMWT
  VSAFQQHPRTVFVCDEDATLELKVKTVKYFKGLMLVHNKLVDPLYSIKEKETEKSQSSKKPYSD

• Structural information:
  • Interpro: IPR006148  IPR004547  IPR018321  IPR037171  
  • Prosite: PS01161
  • CDD: cd01399
  • PDB: 1NE7
  • PDBsum: 1NE7
  • STRING: ENSP00000423674
• Other Databases: GeneCards:  GNPDA1  Malacards:  GNPDA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019262	N-acetylneuraminate catabolic process	IBA	biological process
GO:0006048	UDP-N-acetylglucosamine biosynthetic process	IBA	biological process
GO:0006043	glucosamine catabolic process	IBA	biological process
GO:0004342	glucosamine-6-phosphate deaminase activity	IBA	molecular function
GO:0042802	identical protein binding	IBA	molecular function
GO:0006046	N-acetylglucosamine catabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004342	glucosamine-6-phosphate deaminase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006044	N-acetylglucosamine metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007338	single fertilization	TAS	biological process
GO:0004342	glucosamine-6-phosphate deaminase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006043	glucosamine catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006091	generation of precursor metabolites and energy	IMP	biological process
GO:0006043	glucosamine catabolic process	IMP	biological process
GO:0004342	glucosamine-6-phosphate deaminase activity	IMP	molecular function
GO:0005737	cytoplasm	ISS	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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