Metabolism Antibodies 1
Anti-ITPA Antibody (CAB1221)
- SKU:
- CAB1221
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Metabolism
Description
Antibody Name: | Anti-ITPA Antibody |
Antibody SKU: | CAB1221 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-194 of human ITPA (NP_258412.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | U-87MG, HT-29, Mouse small intestine, Mouse heart, Rat liver |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-194 of human ITPA (NP_258412.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MAAS LVGK KIVF VTGN AKKL EEVV QILG DKFP CTLV AQKI DLPE YQGE PDEI SIQK CQEA VRQV QGPV LVED TCLC FNAL GGLP GPYI KWFL EKLK PEGL HQLL AGFE DKSA YALC TFAL STGD PSQP VRLF RGRT SGRI VAPR GCQD FGWD PCFQ PDGY EQTY AEMP KAEK NAVS HRFR ALLE LQEY FGSL AA |
Gene ID: | 3704 |
Uniprot: | Q9BY32 |
Cellular Location: | Cytoplasm |
Calculated MW: | 16kDa/19kDa/21kDa |
Observed MW: | 21kDa |
Synonyms: | ITPA, C20orf37, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3 |
Background: | 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. |
UniProt Protein Function: | ITPA: Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions. Defects in ITPA are the cause of inosine triphosphate pyrophosphohydrolase deficiency (ITPAD). It is a common inherited trait characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes and also leukocytes and fibroblasts. The pathological consequences of ITPA deficiency, if any, are unknown. However, it might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. Three different human populations have been reported with respect to their ITPase activity: high, mean (25% of high) and low activity. The variant Thr-32 is associated with complete loss of enzyme activity, may be by altering the local secondary structure of the protein. Heterozygotes for this polymorphism have 22.5% of the control activity: this is consistent with a dimeric structure of the enzyme. Belongs to the HAM1 NTPase family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Xenobiotic Metabolism - drug metabolism - other enzymes; Nucleotide Metabolism - pyrimidine; EC 3.6.1.19; Hydrolase; Nucleotide Metabolism - purine Chromosomal Location of Human Ortholog: 20p Cellular Component: cytoplasm; cytosol Molecular Function:metal ion binding; nucleotide binding Biological Process: deoxyribonucleoside triphosphate catabolic process; nucleobase, nucleoside and nucleotide metabolic process; ITP catabolic process; chromosome organization and biogenesis Disease: Inosine Triphosphatase Deficiency |
NCBI 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] |
UniProt Code: | Q9BY32 |
NCBI GenInfo Identifier: | 30173120 |
NCBI Gene ID: | 3704 |
NCBI Accession: | Q9BY32.2 |
UniProt Secondary Accession: | Q9BY32,O14878, Q5JWH4, Q9BYN1, Q9BYX0, Q9H3H8, A2A2N2 A4UIM5, B2BCH7, |
UniProt Related Accession: | Q9BY32 |
Molecular Weight: | 21,446 Da |
NCBI Full Name: | Inosine triphosphate pyrophosphatase |
NCBI Synonym Full Names: | inosine triphosphatase (nucleoside triphosphate pyrophosphatase) |
NCBI Official Symbol: | ITPA |
NCBI Official Synonym Symbols: | My049; C20orf37; dJ794I6.3; HLC14-06-P |
NCBI Protein Information: | inosine triphosphate pyrophosphatase; ITPase; NTPase; inosine triphosphatase-A; putative oncogene protein HLC14-06-P; nucleoside-triphosphate diphosphatase; non-standard purine NTP pyrophosphatase; non-canonical purine NTP pyrophosphatase; inosine triphosphate pyrophosphohydrolase |
UniProt Protein Name: | Inosine triphosphate pyrophosphatase |
UniProt Synonym Protein Names: | Non-canonical purine NTP pyrophosphatase; Non-standard purine NTP pyrophosphatase; Nucleoside-triphosphate diphosphatase; Nucleoside-triphosphate pyrophosphatase; NTPase; Putative oncogene protein hlc14-06-p |
UniProt Gene Name: | ITPA |
UniProt Entry Name: | ITPA_HUMAN |
View AllClose