ITPA - inosine triphosphatase Gene

Homo sapiens

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

Gene ID: 3704 | Gene type: protein coding

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

Recombinant ITPA Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70904	ITPase Protein, Human (His)	Q9BY32 (A2-A194)	≥95%

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-16965	TH287	Inhibitor	98.29%	Unkown
HY-RS06986	ITPA Human Pre-designed siRNA Set A		/	Unkown
HY-16965A	TH287 hydrochloride	Inhibitor	/	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

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