• Gene id: 26330

Gene Summary

• Gene Symbol: GAPDHS   Gene   UCSC   Ensembl
• Aliases: GAPD2, GAPDH-2, GAPDS, HEL-S-278, HSD-35
• Gene name: glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
• Alternate names: glyceraldehyde-3-phosphate dehydrogenase, testis-specific, epididymis secretory protein Li 278, spermatogenic cell-specific glyceraldehyde 3-phosphate dehydrogenase 2, spermatogenic glyceraldehyde-3-phosphate dehydrogenase,
• Gene location: 19q13.12 (35533411: 35545318)     Exons: 11     NC_000019.10
• Gene summary(Entrez): This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adeni
• OMIM: 609169

Protein Summary

• Protein general information: O14556  
  • Name: Glyceraldehyde 3 phosphate dehydrogenase, testis specific (EC 1.2.1.12) (Spermatogenic cell specific glyceraldehyde 3 phosphate dehydrogenase 2) (GAPDH 2) (Spermatogenic glyceraldehyde 3 phosphate dehydrogenase)
  • Length: 408  
  • Mass: 44,501
• Sequence:

  MSKRDIVLTNVTVVQLLRQPCPVTRAPPPPEPKAEVEPQPQPEPTPVREEIKPPPPPLPPHPATPPPKMVSVARE
  LTVGINGFGRIGRLVLRACMEKGVKVVAVNDPFIDPEYMVYMFKYDSTHGRYKGSVEFRNGQLVVDNHEISVYQC
  KEPKQIPWRAVGSPYVVESTGVYLSIQAASDHISAGAQRVVISAPSPDAPMFVMGVNENDYNPGSMNIVSNASCT
  TNCLAPLAKVIHERFGIVEGLMTTVHSYTATQKTVDGPSRKAWRDGRGAHQNIIPASTGAAKAVTKVIPELKGKL
  TGMAFRVPTPDVSVVDLTCRLAQPAPYSAIKEAVKAAAKGPMAGILAYTEDEVVSTDFLGDTHSSIFDAKAGIAL
  NDNFVKLISWYDNEYGYSHRVVDLLRYMFSRDK

• Structural information:
  • Interpro: IPR020831  IPR020830  IPR020829  IPR020828  IPR006424   IPR036291  
  • Prosite: PS00071
  • PDB: 3H9E 3PFW 5C7L 5C7O
  • PDBsum: 3H9E 3PFW 5C7L 5C7O
  • STRING: ENSP00000222286
• Other Databases: GeneCards:  GAPDHS  Malacards:  GAPDHS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004365	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	TAS	molecular function
GO:0004365	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	EXP	molecular function
GO:0004365	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	EXP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0030317	flagellated sperm motility	ISS	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0045821	positive regulation of glycolytic process	TAS	biological process
GO:0050661	NADP binding	IEA	molecular function
GO:0051287	NAD binding	IEA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0004365	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	IEA	molecular function
GO:0004365	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	TAS	molecular function
GO:0004365	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	EXP	molecular function
GO:0004365	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	EXP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006006	glucose metabolic process	IEA	biological process
GO:0006094	gluconeogenesis	TAS	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0030317	flagellated sperm motility	ISS	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0045821	positive regulation of glycolytic process	TAS	biological process
GO:0050661	NADP binding	IEA	molecular function
GO:0051287	NAD binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0061621	canonical glycolysis	TAS	biological process
GO:0004365	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	TAS	molecular function
GO:0004365	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	EXP	molecular function
GO:0004365	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	EXP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0030317	flagellated sperm motility	ISS	biological process
GO:0045821	positive regulation of glycolytic process	TAS	biological process
GO:0061621	canonical glycolysis	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00010	Glycolysis / Gluconeogenesis

Diseases

Associated diseases	References
Alzheimer's disease	GAD: 17192785
Male factor infertility	MIK: 25355644
Hypospermatogenesis	MIK: 23675907
Sertoli cell only syndrome (SCOS)	MIK: 23675907
Maturation arrest	MIK: 23675907
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 25888749
Sperm motility defects	MIK: 25888749
Male infertility	MIK: 25888749
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Maturation arrest (MA)	MIK: 23675907
Male infertility	MIK: 25355644
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583
Role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon	MIK: 1375514

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23675907	Hypospermatogenesis (HS) maturation arrest (MA), Sertoli cell-only syndrome (SCO)				Male infertility	MND1 SPATA22 GAPDHS and ACR
25355644	Male infertility				Male infertility	SEMG1 PIP GAPDHS PGK2
15546993	Required for sperm motility and male infertility				Male infertility
9510974	Potential role in sperm motility				Male infertility
1375514	Role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon				Male infertility
25888749	Associated with spermatogenesis, sperm motility, Male infertility				Male infertility
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray