1. Gene
  2. THTPA - thiamine triphosphatase Gene

THTPA - thiamine triphosphatase Gene

中文名称:硫胺素三磷酸酶

种属: Homo sapiens

同用名: THTP; THTPASE

基因 ID: 79178 | 基因类型: protein coding

关于 THTPA

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,511,760-23,560,271 (from NCBI)

This gene has 8 transcripts (splice variants) and 173 orthologues. Ubiquitous expression in testis (RPKM 8.5), prostate (RPKM 7.8) and 25 other tissues.

功能概要

该基因编码一种酶,该酶通过三磷酸硫胺素的水解催化二磷酸硫胺素 (维生素 B1) 的生物合成。可变剪接导致多个转录本变体。[RefSeq 提供,2011 年 12 月]

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]

THTPA 基因产物(6)

mRNA Protein Name
NM_001126339.3 NP_001119811.1 thiamine-triphosphatase isoform 1
NM_001256062.2 NP_001242991.1 thiamine-triphosphatase isoform 2
NM_001256321.2 NP_001243250.1 thiamine-triphosphatase isoform 2
NM_001256322.2 NP_001243251.1 thiamine-triphosphatase isoform 3
NM_001256323.2 NP_001243252.1 thiamine-triphosphatase isoform 3
NM_024328.6 NP_077304.1 thiamine-triphosphatase isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables thiamine triphosphate phosphatase activity IDA
IDA: 通过直接分析推断
11827967 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in dephosphorylation IDA
IDA: 通过直接分析推断
11827967 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

THTPA 蛋白结构

CYTH

CYTH: CYTH domain (6 - 190)

  • 0
  • 100
  • 200
  • 230 a.a.
蛋白主名 其他名称

thiamine-triphosphatase

关联疾病

疾病名称 别名
Marsili Syndrome

Congenital Insensitivity To Pain

Congenital Analgesia, Autosomal Dominant

MARSIS

Insensitivity To Pain, Congenital, Autosomal Dominant

Congenital Analgesia

Congenital Indifference To Pain

Hereditary Sensory And Autonomic Neuropathy Type V

Hereditary Sensory And Autonomic Neuropathy

Channelopathy-Associated Cip

Channelopathy-Associated Congenital Insensitivity To Pain

Congenital Insensitivity To Pain And Thermal Analgesia

Hsan V

Hsan5

Hereditary Sensory And Autonomic Neuropathy Type 5

Insensitivity To Pain, Congenital

Neuropathy, Hereditary Sensory And Autonomic, Type V

Hsan

Hereditary Sensory Autonomic Neuropathy

Asymbolia For Pain

Channelopathy-Associated Insensitivity To Pain

Cip

Congenital Pain Indifference

Indifference To Pain, Congenital, Autosomal Recessive

Pain Insensitivity, Congenital

Beriberi

Thiamine Deficiency

Vitamin B1 Deficiency

Aneurin Deficiency

Thiamine Vitamin Deficiency

Beriberi Nos

Beriberi Due To Vitamin B1 Deficiency

Beriberi Due To Thiamine Vitamin Deficiency

Kakkè

Wernicke-Korsakoff Syndrome

Korsakoff Syndrome

Transketolase Defect

Korsakoff'S Syndrome

Alcohol-Induced Encephalopathy

Korsakoff'S Psychosis

Korsakov Psychosis

Korsakov'S Psychosis

Alcohol Induced Encephalopathy

Korsakoff Disease

Korsakoff Psychosis

Thiamine Deficiency Disease
Phencyclidine Abuse

Pcp Abuse

Wernicke Encephalopathy

Wernicke'S Encephalopathy

Wernicke'S Disease

Encephalopathy, Wernicke'S

Wernicke-Korsakoff Syndrome

Encephalopathy Due To Vitamin B1 Deficiency

Wernicke Disease

Wernicke Syndrome

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus THTPA MGD MGI:2446078
Rattus norvegicus THTPA RGD RGD:727917
Macaca mulatta THTPA VGNC VGNC:99271
Canis familiaris THTPA VGNC VGNC:47359
Felis catus THTPA VGNC VGNC:66178
Bos taurus THTPA VGNC VGNC:35852