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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	References	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	References	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

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)

Cat. No.	상품명	효과	Purity	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