TPK1 - thiamin pyrophosphokinase 1 Gene

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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14935	TPK1 Human Pre-designed siRNA Set A		/	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