Harmonizome 3.0

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

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]

cancer-related nucleoside-triphosphatase pseudogene

thiamine triphosphatase

This gene encodes an enzyme which catalyzes the biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of thiamine triphosphate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

deoxyuridine triphosphatase

This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. [provided by RefSeq, Jul 2008]

deoxyuridine triphosphatase pseudogene 2

deoxyuridine triphosphatase pseudogene 3

deoxyuridine triphosphatase pseudogene 1

deoxyuridine triphosphatase pseudogene 6

deoxyuridine triphosphatase pseudogene 7

deoxyuridine triphosphatase pseudogene 4

deoxyuridine triphosphatase pseudogene 5

deoxyuridine triphosphatase pseudogene 8

nucleoside-triphosphatase, cancer-related

The protein encoded by this gene is a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016]

IMP (inosine 5'-monophosphate) dehydrogenase 1

The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 9

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 8

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 3

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 2

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 1

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 6

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 4

IMP (inosine 5'-monophosphate) dehydrogenase 2

This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008]

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 11

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 10

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 7

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 5