TPK1 - thiamin pyrophosphokinase 1 Gene

Also Known as PP20; HTPK1; THMD5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27010

About TPK1

Cytogenetic location: 7q35 Genomic coordinates (GRCh38): 7:144,451,941-144,836,437 (from NCBI)

This gene has 13 transcripts (splice variants), 207 orthologues and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 1.3), testis (RPKM 0.7) and 24 other tissues.

Summary

The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some Enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]

TPK1 Products (15)

mRNA	Protein	Name
NM_001042482.2	NP_001035947.1	thiamin pyrophosphokinase 1 isoform b
NM_001350879.1	NP_001337808.1	thiamin pyrophosphokinase 1 isoform a
NM_001350880.1	NP_001337809.1	thiamin pyrophosphokinase 1 isoform b
NM_001350881.1	NP_001337810.1	thiamin pyrophosphokinase 1 isoform c
NM_001350882.1	NP_001337811.1	thiamin pyrophosphokinase 1 isoform d
NM_001350883.1	NP_001337812.1	thiamin pyrophosphokinase 1 isoform d
NM_001350884.2	NP_001337813.1	thiamin pyrophosphokinase 1 isoform d
NM_001350885.1	NP_001337814.1	thiamin pyrophosphokinase 1 isoform e
NM_001350886.1	NP_001337815.1	thiamin pyrophosphokinase 1 isoform e
NM_001350887.1	NP_001337816.1	thiamin pyrophosphokinase 1 isoform e
NM_001350889.1	NP_001337818.1	thiamin pyrophosphokinase 1 isoform e
NM_001350893.1	NP_001337822.1	thiamin pyrophosphokinase 1 isoform e
NM_001350894.1	NP_001337823.1	thiamin pyrophosphokinase 1 isoform e
NM_001350895.1	NP_001337824.1	thiamin pyrophosphokinase 1 isoform f
NM_022445.4	NP_071890.2	thiamin pyrophosphokinase 1 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables UTP thiamine diphosphokinase activity	IDA IDA: Inferred from direct assay	38547260	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25502805	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables thiamine diphosphokinase activity	IDA IDA: Inferred from direct assay	11342111	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of acetyl-CoA biosynthetic process from pyruvate	IMP IMP: Inferred from mutant phenotype	38547260	GOA
involved in thiamine diphosphate biosynthetic process	IDA IDA: Inferred from direct assay	11342111	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

TPK1 Protein Structure

TPK_catalytic

TPK_B1_binding

0
100
200
243 a.a.

Protein Preferred Names	Protein Names
thiamin pyrophosphokinase 1	placental protein 20

TPK1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TPK1	Q9H3S4	TPK1	Homo sapiens	Q9H3S4	Y2H Array	32296183
Intra	TPK1	Q9H3S4	TPK1	Homo sapiens	Q9H3S4	Y2H Array	29892012
Intra	TPK1	Q9H3S4	NSF	Homo sapiens	P46459	Anti Tag CoIP	33961781
Intra	TPK1	Q9H3S4	PLS1	Homo sapiens	Q14651	Anti Tag CoIP	33961781
Intra	TPK1	Q9H3S4	TPK1	Homo sapiens	Q9H3S4	Y2H Array	31515488
Intra	TPK1	Q9H3S4	TPK1	Homo sapiens	Q9H3S4	Y2H Array	25502805
Intra	TPK1	Q9H3S4	TPK1	Homo sapiens	Q9H3S4	Y2H Prey Pooling	32296183
Intra	TPK1	Q9H3S4	TPK1	Homo sapiens	Q9H3S4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TPK1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71376	TPK1 Protein, Human (HEK293, His)	AAH68460.1 (M1-S243)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Thiamine Metabolism Dysfunction Syndrome 5	THMD5 Encephalopathy, Episodic, Due To Thiamine Pyrophosphokinase Deficiency Thiamine Metabolism Dysfunction Syndrome 5, Episodic Encephalopathy Type Episodic Encephalopathy Due To Thiamine Pyrophosphokinase Deficiency
Childhood Encephalopathy Due To Thiamine Pyrophosphokinase Deficiency
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Thiamine Deficiency Disease
Septal Myocardial Infarction
Wet Beriberi
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
Dry Beriberi
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Wernicke Encephalopathy	Wernicke'S Encephalopathy Wernicke'S Disease Encephalopathy, Wernicke'S Wernicke-Korsakoff Syndrome Encephalopathy Due To Vitamin B1 Deficiency Wernicke Disease Wernicke Syndrome
Thiamine Metabolism Dysfunction Syndrome 2	Biotin-Responsive Basal Ganglia Disease Basal Ganglia Disease, Biotin-Responsive THMD2 Bbgd Btbgd Encephalopathy, Thiamine-Responsive Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type Thiamine-Responsive Encephalopathy
Conjugate Gaze Palsy	Palsy Of Conjugate Gaze Supranuclear Ocular Palsy Gaze Palsy
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14935	TPK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18640	Tpk1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25125	Tpk1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TPK1	VGNC	VGNC:66476
Macaca mulatta	TPK1	VGNC	VGNC:79075
Canis familiaris	TPK1	VGNC	VGNC:47741
Bos taurus	TPK1	VGNC	VGNC:36251
Rattus norvegicus	TPK1	RGD	RGD:1589408
Mus musculus	TPK1	MGD	MGI:1352500
Others	TPK1	NCBI