THTPA - thiamine triphosphatase Gene

Also Known as THTP; THTPASE

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79178

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Referencias Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables thiamine triphosphate phosphatase activity IDA
IDA: Inferred from direct assay
11827967 GOA
Biological Process GO Annotation Evidence Referencias Source
involved in dephosphorylation IDA
IDA: Inferred from direct assay
11827967 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

THTPA Protein Structure

CYTH

CYTH: CYTH domain (6 - 190)

  • 0
  • 100
  • 200
  • 230 a.a.
Protein Preferred Names Protein Names

thiamine-triphosphatase

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS14507 THTPA Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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