ITPA - inosine triphosphatase Gene

Also Known as DEE35; My049; ITPase; NTPase; C20orf37; dJ794I6.3; HLC14-06-P

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3704

About ITPA

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:3,204,065-3,227,449 (from NCBI)

This gene has 10 transcripts (splice variants), 202 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 6.0), lymph node (RPKM 5.7) and 25 other tissues.

Summary

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 family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

ITPA Products (8)

mRNA	Protein	Name
NM_001267623.2	NP_001254552.1	inosine triphosphate pyrophosphatase isoform c
NM_001324236.2	NP_001311165.1	inosine triphosphate pyrophosphatase isoform d
NM_001324237.2	NP_001311166.1	inosine triphosphate pyrophosphatase isoform d
NM_001324238.2	NP_001311167.1	inosine triphosphate pyrophosphatase isoform d
NM_001324240.2	NP_001311169.1	inosine triphosphate pyrophosphatase isoform e
NM_001351739.2	NP_001338668.1	inosine triphosphate pyrophosphatase isoform d
NM_033453.4	NP_258412.1	inosine triphosphate pyrophosphatase isoform a
NM_181493.4	NP_852470.1	inosine triphosphate pyrophosphatase isoform b

ITPA Protein Structure

Ham1p_like

0
100
194 a.a.

Protein Preferred Names	Protein Names
inosine triphosphate pyrophosphatase	epididymis secretory sperm binding protein

ITPA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ITPA	Q9BY32	ITPA	Homo sapiens	Q9BY32	Y2H Array	32296183
Intra	ITPA	Q9BY32	ITPA	Homo sapiens	Q9BY32	Validated Y2H	32296183
Intra	ITPA	Q9BY32	ITPA	Homo sapiens	Q9BY32	Y2H Prey Pooling	32296183
Intra	ITPA	Q9BY32	ITPA	Homo sapiens	Q9BY32	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ITPA Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70904	ITPase Protein, Human (His)	Q9BY32-1 (A2-A194)	≥ 95%, as determined by reducing SDS-PAGE.

ITPA Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83359	ITPA Antibody (YA3104)	WB, IHC-P	Human
HY-P83359A	ITPA Antibody (YA3104)(PBS only)	WB, IHC-P	Human

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 35	DEE35 Epileptic Encephalopathy, Early Infantile, 35 Eiee35 Developmental And Epileptic Encephalopathy, 35 Early Infantile Epileptic Encephalopathy 35 Itpa-Related Encephalopathy Itpa-Related Lethal Infantile Neurological Disorder With Cataract And Cardiac Involvement Martsolf-Like Syndrome
Inosine Triphosphatase Deficiency	Inosine Triphosphate Pyrophosphohydrolase Deficiency ITPAD
Tooth Agenesis, Selective, 1	STHAG1 Hypodontia/Oligodontia 1 Hyd1 Tooth Agenesis, Familial Tooth Agenesis, Selective, 1, With Or Without Orofacial Cleft Second Premolars And Third Molars, Absence Of Absence Of Second Premolars And Third Molars Familial Tooth Agenesis Hypodontia/Oligodontia With Orofacial Cleft Selective Tooth Agenesis 1 Selective Tooth Agenesis With Orofacial Cleft
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Thiopurines, Poor Metabolism Of, 1	Thiopurine S-Methyltransferase Deficiency Tpmt Deficiency Thiopurine Methyltransferase Deficiency Thiopurine S Methyltranferase Deficiency THPM1 Tpmtd Poor Metabolism Of Thiopurines-1 6-Mercaptopurine Sensitivity Thiopurines, Poor Metabolism Of Poor Metabolism Of Thiopurines
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Asymptomatic Neurosyphilis	Neurosyphilis Neurosyphilis, Asymptomatic
Adenosine Deaminase Deficiency	Ada Deficiency Ada-Scid Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency Adenosine Deaminase Deficient Severe Combined Immunodeficiency Scid Due To Ada Deficiency Severe Combined Immunodeficiency Due To Ada Deficiency Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency Ada Scid Due To Adenosine Deaminase Deficiency
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Pancytopenia
Tertiary Neurosyphilis	Late Neurosyphilis Late Syphilis Of Central Nervous System Nos
Specific Language Impairment	Language Impairment, Specific
Martsolf Syndrome 1	Martsolf Syndrome Cataract-Intellectual Disability-Hypogonadism Syndrome MARTS1 Marts Cataract-Mental Retardation-Hypogonadism Martsolf
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-16965	TH287	Inhibitor	98.99%	Unkown
HY-RS06986	ITPA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-16965A	TH287 hydrochloride	Inhibitor	/	Unkown
HY-RS20758	Itpa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27271	Itpa Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ITPA	VGNC	VGNC:30342
Canis familiaris	ITPA	VGNC	VGNC:42152
Felis catus	ITPA	VGNC	VGNC:109567
Rattus norvegicus	ITPA	RGD	RGD:1589751
Mus musculus	ITPA	MGD	MGI:96622
Macaca mulatta	ITPA	VGNC	VGNC:73801
Others	ITPA	NCBI