• Gene id: 3704

Gene Summary

• Gene Symbol: ITPA   Gene   UCSC   Ensembl
• Aliases: C20orf37, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3
• Gene name: inosine triphosphatase
• Alternate names: inosine triphosphate pyrophosphatase, epididymis secretory sperm binding protein, inosine triphosphatase (nucleoside triphosphate pyrophosphatase), inosine triphosphate pyrophosphohydrolase, non-canonical purine NTP pyrophosphatase, non-standard purine NTP pyr,
• Gene location: 20p13 (3208675: 3227448)     Exons: 12     NC_000020.11
• Gene summary(Entrez): This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein f
• OMIM: 147520

SNPs

rs1127354

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.3213196C>A
NC_000020.11   g.3213196C>G
NC_000020.10   g.3193842C>A
NC_000020.10   g.3193842C>G
NG_012093.2   g.9330C>A
NG_012093.2   g.9330C>G
NM_033453.4   c.94C>A
NM_033453.4   c.94C>G
NM_033453.3   c.94C>A
NM_033453.3   c.94C>G
NM_181493.4   c.43C>A
NM  

Protein Summary

• Protein general information: Q9BY32  
  • Name: Inosine triphosphate pyrophosphatase (ITPase) (Inosine triphosphatase) (EC 3.6.1.9) (Non canonical purine NTP pyrophosphatase) (Non standard purine NTP pyrophosphatase) (Nucleoside triphosphate diphosphatase) (Nucleoside triphosphate pyrophosphatase) (NTP
  • Length: 194  
  • Mass: 21446
  • Tissue specificity: Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.
• Sequence:

  MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCL
  CFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFG
  WDPCFQPDGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA

• Structural information:
  • Interpro: IPR002637  IPR027502  IPR029001  
  • CDD: cd00515
  • PDB: 2CAR 2I5D 2J4E 4F95
  • PDBsum: 2CAR 2I5D 2J4E 4F95
  • STRING: ENSP00000369456
• Other Databases: GeneCards:  ITPA  Malacards:  ITPA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047429	nucleoside-triphosphate diphosphatase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0009143	nucleoside triphosphate catabolic process	IBA	biological process
GO:0047429	nucleoside-triphosphate diphosphatase activity	IEA	molecular function
GO:0009143	nucleoside triphosphate catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0009117	nucleotide metabolic process	IEA	biological process
GO:0036218	dTTP diphosphatase activity	IEA	molecular function
GO:0035529	NADH pyrophosphatase activity	IEA	molecular function
GO:0047429	nucleoside-triphosphate diphosphatase activity	IEA	molecular function
GO:0004551	nucleotide diphosphatase activity	IEA	molecular function
GO:0006195	purine nucleotide catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0047429	nucleoside-triphosphate diphosphatase activity	IEA	molecular function
GO:0006193	ITP catabolic process	IEA	biological process
GO:0051276	chromosome organization	IEA	biological process
GO:0035870	dITP diphosphatase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0047429	nucleoside-triphosphate diphosphatase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0009204	deoxyribonucleoside triphosphate catabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00983	Drug metabolism - other enzymes

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Thrombocytopenia	PMID:24519039
Anemia	PMID:26154744
Hemolytic anemia	PMID:21274861
Hemolytic anemia	PMID:23933495
Rheumatoid arthritis	PMID:29441893
acute lymphocytic leukemia	PMID:22009189
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

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