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3704 ITPA

3704

ITPA

inosine triphosphatase

protein-coding

Homo sapiens

基因描述

Type Description
Definition inosine triphosphatase

研究结论

Date Results Publications
2020-06-20 12:58:00 We evaluated the role of inosine triphosphatase (ITPA) in 6-mercaptopurine (6-MP) sensitivity during treatment of pediatric patients with acute lymphoblastic leukemia 31635813
2020-03-14 12:44:00 ITPA genotype and erythrocyte RTP concentrations were major factors associated with reduced Hb levels in RBV therapy for CHC. 30817703
2020-02-15 10:10:00 TPMT *3C and TPMT*12 are the key determinants of 6-mercaptopurine-mediated hematological toxicity in acute lymphoblastic leukemia, while other variants of TPMT (int3, int4 and int7) and ITPA ex2 interact synergistically with TPMT*3C or TPMT*12 variant alleles to enhance the toxicity 30806759
2019-09-21 10:23:00 Genetic analysis of 85 unrelated "mutation negative" probands with Martsolf or Martsolf-like syndromes identified two individuals with different homozygous null mutations in ITPA, the gene encoding inosine triphosphate pyrophosphatase (ITPase). Both probands were from multiplex families with a consistent, lethal and highly distinctive disorder; a Martsolf-like syndrome with infantile-onset dilated cardiomyopathy. 30856165
2019-03-30 11:57:00 Thiopurine methyltransferase (TPMT) and inosine triphosphatase (ITPA) genotypes significantly influence the metabolism of 6-mercaptopurine (6MP). 29387964

名称对应

Type IDs
Synonymous C20orf37, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3
Gene
UniProtKB-ID: ITPA_HUMAN, Q8WWI0_HUMAN, A0A0S2Z3W7_HUMAN, A0A0S2Z423_HUMAN
UniprotKB: Q9BY32, Q8WWI0, A0A0S2Z3W7, A0A0S2Z423
UniParc: UPI0000072BC2, UPI00001A95E9, UPI000020691D, UPI0000073B25
EMBL: AF219116, EF199841, AF334680, BI115811, AL109976, AF063607, GQ891343, CH471133, AF026816, AL121891, KU178148, AB062127, BC010138, EF213026, KU178149
Ensembl: ENSG00000125877
KO: hsa:3704
Nucleutide sequences
EMBL-CDS: AAB82608.2, ABP01354.1, EAX10541.1, ABO70316.1, AAH10138.1, BAB93459.1, AAG43165.1, AAK21848.1, AAL57168.1, EAX10542.1, ALQ33606.1, ADO22205.1, ALQ33607.1
Gene_ORFName: My049, OK/SW-cl.9, hCG_39262
Ensembl_TRS: ENST00000455664, ENST00000399838, ENST00000380113
Protein sequencees
Ensembl_PRO: ENSP00000369456, ENSP00000382732, ENSP00000413282
RefSeq: NP_258412.1, NP_001254552.1, NP_852470.1, NP_001311169.1, NP_001311167.1, XP_006723627.1, NP_001311166.1, NP_001311165.1, XP_006723628.1, NP_001338668.1, XP_011527536.1, XP_024307648.1
Others
UniRef100: UniRef100_Q9BY32, UniRef100_A0A2I2ZDH0, UniRef100_Q8WWI0
UniRef90: UniRef90_Q8WWI0, UniRef90_Q9BY32, UniRef90_A0A2I3T0U9
UniRef50: UniRef50_Q8WWI0, UniRef50_G3VP34, UniRef50_Q9BY32
UniGene: Hs.415299
CCDS: CCDS46576.1, CCDS58762.1, CCDS13051.1

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