2. Gene
  3. TPK1 - thiamin pyrophosphokinase 1 Gene

TPK1 - thiamin pyrophosphokinase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：硫胺素焦磷酸激酶 1

种属: Homo sapiens

同用名: PP20; HTPK1; THMD5

基因 ID: 27010 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质作为同源二聚体发挥作用，并催化硫胺素转化为焦磷酸硫胺素，焦磷酸硫胺素是糖酵解和能量产生途径中某些酶的辅助因子。该基因的缺陷是导致硫胺素代谢功能障碍综合征 5 的原因。[RefSeq 提供，2017 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables UTP thiamine diphosphokinase activity IDA
IDA: 通过直接分析推断
38547260 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
25502805 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables thiamine diphosphokinase activity IDA
IDA: 通过直接分析推断
11342111 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of acetyl-CoA biosynthetic process from pyruvate IMP
IMP: 通过突变表型推断
38547260 GOA
involved in thiamine diphosphate biosynthetic process IDA
IDA: 通过直接分析推断
11342111 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TPK1 蛋白结构

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.
蛋白主名 其他名称

thiamin pyrophosphokinase 1

placental protein 20

TPK1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TPK1 Q9H3S4 TPK1 Homo sapiens Q9H3S4
Y2H Array
32296183
种属内
TPK1 Q9H3S4 TPK1 Homo sapiens Q9H3S4
Y2H Array
29892012
种属内
TPK1 Q9H3S4 NSF Homo sapiens P46459
Anti Tag CoIP
33961781
种属内
TPK1 Q9H3S4 PLS1 Homo sapiens Q14651
Anti Tag CoIP
33961781
种属内
TPK1 Q9H3S4 TPK1 Homo sapiens Q9H3S4
Y2H Array
31515488
种属内
TPK1 Q9H3S4 TPK1 Homo sapiens Q9H3S4
Y2H Array
25502805
种属内
TPK1 Q9H3S4 TPK1 Homo sapiens Q9H3S4
Y2H Prey Pooling
32296183
种属内
TPK1 Q9H3S4 TPK1 Homo sapiens Q9H3S4
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 TPK1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71376 TPK1 Protein, Human (HEK293, His) AAH68460.1 (M1-S243) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14935 TPK1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z