2. Gene
  3. TPK1 - thiamin pyrophosphokinase 1 Gene

TPK1 - thiamin pyrophosphokinase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PP20; HTPK1; THMD5

Gene ID: 27010 | Gene type: protein coding

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 Reference 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 Reference 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_catalytic: Thiamin pyrophosphokinase, catalytic domain (30 - 157)

TPK_B1_binding

TPK_B1_binding: Thiamin pyrophosphokinase, vitamin B1 binding domain (168 - 235)

  • 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 Reference
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%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14935 TPK1 Human Pre-designed siRNA Set A Pre-designed Sets / 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