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  2. THTPA - thiamine triphosphatase Gene

THTPA - thiamine triphosphatase Gene

Homo sapiens

Also known as THTP; THTPASE

Gene ID: 79178 | Gene type: protein coding

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

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

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