1. Gene
  2. TPMT - thiopurine S-methyltransferase Gene

TPMT - thiopurine S-methyltransferase Gene

中文名称:硫嘌呤 S-甲基转移酶

种属: Homo sapiens

同用名: TPMTD

基因 ID: 7172 | 基因类型: protein coding

关于 TPMT

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:18,128,311-18,155,169 (from NCBI)

This gene has 1 transcript (splice variant), 209 orthologues and is associated with 1 phenotype. Broad expression in thyroid (RPKM 38.6), kidney (RPKM 27.8) and 24 other tissues.

功能概要

该基因编码的酶通过 S-腺苷-L-甲硫氨酸作为 S-甲基供体和 S-腺苷-L-高半胱氨酸作为副产物代谢硫嘌呤药物。硫嘌呤类药物如 6-巯基嘌呤被用作化学治疗剂。影响这种酶活性的遗传多态性与个体对此类药物的敏感性和毒性变化相关,导致硫嘌呤 S-甲基转移酶缺乏。已在 3 号、18 号和 X 号染色体上鉴定出相关的假基因。[RefSeq 提供,2014 年 8 月]

This gene encodes the Enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014]

TPMT 基因产物(3)

mRNA Protein Name
NM_000367.5 NP_000358.1 thiopurine S-methyltransferase isoform 1
NM_001346817.1 NP_001333746.1 thiopurine S-methyltransferase isoform 1
NM_001346818.1 NP_001333747.1 thiopurine S-methyltransferase isoform 2

TPMT 蛋白结构

TPMT

TPMT: Thiopurine S-methyltransferase (TPMT) (26 - 245)

  • 0
  • 100
  • 200
  • 245 a.a.
蛋白主名 其他名称

thiopurine S-methyltransferase

S-adenosyl-L-methionine:thiopurine S-methyltransferase

TPMT 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
TPMT P51580 YWHAG Homo sapiens P61981 32814053
种属内
TPMT P51580 YWHAG Homo sapiens P61981 32814053
种属内
TPMT P51580 YWHAG Homo sapiens P61981 32814053
种属内
TPMT P51580 SETDB1 Homo sapiens Q15047-2 32814053
种属内
TPMT P51580 SETDB1 Homo sapiens Q15047-2 32814053
种属内
TPMT P51580 SETDB1 Homo sapiens Q15047-2 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

TPMT 抗体

目录号 产品名 应用 反应物种
HY-P83538 TPMT Antibody (YA3283) WB, IHC-P, IP Human

关联疾病

疾病名称 别名
Thiopurines, Poor Metabolism Of, 1

Thiopurine S-Methyltransferase Deficiency

Tpmt Deficiency

Thiopurine Methyltransferase Deficiency

Thiopurine S Methyltranferase Deficiency

THPM1

Tpmtd

Poor Metabolism Of Thiopurines-1

6-Mercaptopurine Sensitivity

Thiopurines, Poor Metabolism Of

Poor Metabolism Of Thiopurines

Neutropenia

Leukopenia

Autoimmune Hepatitis

Aih

Hepatitis, Autoimmune

Autoimmune Chronic Active Hepatitis

Autoimmune Hepatitis With Centrilobular Necrosis

Autoimmune Chronic Hepatitis

Hepatitis Autoimmune

Pancytopenia
Childhood Acute Lymphocytic Leukemia

Childhood Acute Lymphoblastic Leukemia

Childhood All

Pediatric Acute Lymphoblastic Leukemia

Lymphoblastic Leukemia Acute Childhood

Drug Allergy

Allergy Drug

Drug Allergies

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Ulcerative Colitis

Colitis Gravis

Left Sided Ulcerative Colitis

Left-Sided Ulcerative Colitis

Idiopathic Proctocolitis

Inflammatory Bowel Disease, Ulcerative Colitis Type

Uc

Colitis Ulcerative

Colitis, Ulcerative

Chronic Left-Sided Ulcerative Colitis

Uc - [Ulcerative Colitis]

Chronic Ulcerative Enteritis

Mucosal Proctocolitis

Ulcerative Mucosal Proctocolitis

Left Hemicolitis

Acute Leukemia

Stem Cell Leukaemia

Stem Cell Leukemia

Acute Leukemias

Acute Undifferentiated Leukemia

Undifferentiated Leukemia

Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission

Blast Cell Leukaemia

Blast Leukaemia

Blastic Leukaemia

Undifferentiated Leukaemia

Gilbert Syndrome

Gilbert Disease

Gilbert'S Disease

Gilbert'S Syndrome

Cholemia, Familial

Familial Nonhemolytic Jaundice

Meulengracht Syndrome

Gilbert Syndrome, Susceptibility To

Hyperbilirubinemia, Gilbert Type

Hblrg

Hyperbilirubinemia, Arias Type

Hyperbilirubinemia I

Constitutional Hyperbilirubinemia

Gilbert-Meulengracht Syndrome

Hereditary Nonhemolytic Jaundice

Hyperbilirubinemia Arias Type

Hyperbilirubinemia Type 1

Constitutional Liver Dysfunction

Gilbert-Lereboullet Syndrome

Hyperbilirubinemia 1

Unconjugated Benign Bilirubinemia

GILBS

Gilberts Syndrome

Familial Nonhaemolytic Jaundice

Constitutional Hyperbilirubinaemia

Hereditary Nonhaemolytic Bilirubinaemia

Familial Nonhaemolytic Bilirubinaemia

Idiopathic Hyperbilirubinaemia

Icterus Intermittens Juvenilis

Chronic Intermittent Juvenile Jaundice

Low-Grade Chronic Hyperbilirubinaemia Syndrome

Benign Unconjugated Bilirubinaemia Syndrome

Hereditary Nonhaemolytic Jaundice

Idiopathic Unconjugated Hyperbilirubinaemia

Gilbert--Lereboullet Syndrome

Constitutional Hepatic Dysfunction

Meulengracht Icterus

Cholaemia Familiaris Simplex

Familial Cholaemia

Congenital Familial Cholaemia

Physiologic Cholaemia

Hyperbilirubinaemia Type 1

Gilbert Cholaemia

Coumarin Resistance

Warfarin Resistance

Warfarin Sensitivity

Coumadin Sensitivity

Warfarin Response

Poor Metabolism Of Coumarin

Coumarin, Poor Metabolism Of

CMRES

Peliosis Hepatis

Hepatic Peliosis

Telangiectasis Of Liver

Angiomatosis Of Liver

Ph - [Peliosis Hepatis]

Hepatic Angiomatosis

Hepatic Veno-Occlusive Disease

Veno-Occlusive Disease

Sinusoidal Obstruction Syndrome

Hepatic Venoocclusive Disease

Venoocclusive Disease

Hepatic Vein Thrombosis

Budd-Chiari Syndrome

Hepatic Vein Occlusion

Veno-Occlusive Disease Of The Liver

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Gastroduodenal Crohn'S Disease

Upper Gi Crohn'S Disease

Hepatosplenic T-Cell Lymphoma

Doid:0081049

Severe Cutaneous Adverse Reaction

Stevens-Johnson Syndrome

Toxic Epidermal Necrolysis

Drug-Induced Stevens Johnson Syndrome

Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum

Susceptibility To Severe Cutaneous Adverse Reaction

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis

Lyell'S Syndrome

Lyell Syndrome

Severe Cutaneous Adverse Reaction, Susceptibility To

Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To

Hypersensitivity Syndrome, Carbamazepine-Induced

Stevens-Johnson Syndrome, Susceptibility To

Toxic Epidermal Necrolysis, Susceptibility To

Sjs/Ten

Susceptibility To Severe Cutaneous Adverse Reaction Ity To

Mycoplasma-Induced Stevens Johnson Syndrome

Dermatostomatitis, Stevens Johnson Type

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum

Sjs-Ten

Toxic Epidermolysis

SJS

Dermatostomatitis Stevens Johnson Type

Ten

Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis]

Ten - [Toxic Epidermal Necrolysis]

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Granulomatosis With Polyangiitis

GPA

Wegener Granulomatosis

Wegener Granulomatosis, Formerly

Midline Granulomatosis

Wg, Formerly

Necrotizing Respiratory Granulomatosis

Wg

Wegeners Granulomatosis

Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis

Dermatitis, Atopic

Atopic Dermatitis

Atopic Eczema

Dermatitis, Atopic, Susceptibility To, 1

Atod

Eczema, Atopic

Dermatitis, Atopic 1

Allergic Dermatitis

Atopic Neurodermatitis

Besnier'S Prurigo

Dermatitis, Atopic, 1

Dermatitis Atopic

Eczema

Besnier Prurigo

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

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

直系同源

种属 基因名 来源 基因 ID
Felis catus TPMT VGNC VGNC:66479
Mus musculus TPMT MGD MGI:98812
Bos taurus TPMT VGNC VGNC:36255
Canis familiaris TPMT VGNC VGNC:47745
Macaca mulatta TPMT VGNC VGNC:83512
Rattus norvegicus TPMT RGD RGD:1585162
Others TPMT NCBI