Official symbol | ITPA |
Gene id | 3704 |
Organism | Homo sapiens |
Official full symbol | inosine triphosphatase |
Gene type | protein-coding |
Also known as | C20orf37, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3 |
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. |
Genomic regions | Chromosome 20 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
ITPA-201 | ENST00000380113.8 | 1037 | 194aa | Protein coding | CCDS13051 | Q9BY32-1 | NM_033453.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
ITPA-202 | ENST00000399838.3 | 897 | 153aa | Protein coding | CCDS58762 | Q9BY32-3 | - | TSL:1, GENCODE basic, |
ITPA-203 | ENST00000455664.6 | 729 | 177aa | Protein coding | CCDS46576 | Q9BY32-2 | - | TSL:1, GENCODE basic, |
ITPA-208 | ENST00000483354.5 | 1028 | No protein | Processed transcript | - | - | - | TSL:3, |
ITPA-209 | ENST00000490838.6 | 977 | No protein | Processed transcript | - | - | - | TSL:2, |
ITPA-204 | ENST00000460550.5 | 967 | No protein | Processed transcript | - | - | - | TSL:2, |
ITPA-207 | ENST00000472295.1 | 670 | No protein | Processed transcript | - | - | - | TSL:2, |
ITPA-205 | ENST00000460676.5 | 488 | No protein | Processed transcript | - | - | - | TSL:3, |
ITPA-206 | ENST00000461029.1 | 378 | No protein | Processed transcript | - | - | - | TSL:5, |
ITPA-210 | ENST00000609835.5 | 924 | No protein | Retained intron | - | - | - | TSL:1, |
Target Gene | ITPA |
This KO Strategy | loading |
Red Cotton™ Notes | Gene ITPA had been KO in hek293t cell line. |
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