1. Gene
  2. UGT1A6 - UDP glucuronosyltransferase family 1 member A6 Gene

UGT1A6 - UDP glucuronosyltransferase family 1 member A6 Gene

中文名称:UDP 葡萄糖醛酸转移酶家族 1 成员 A6

种属: Homo sapiens

同用名: GNT1; UGT1; HLUGP; UDPGT; UGT1A; UGT1C; UGT1E; UGT1F; HLUGP1; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1.1; UGT1.3; UGT1.5; UGT1.6; UGT1A1; UGT1A3; UGT1A5; UGT1-01; UGT1-03; UGT1-05; UGT1-06; UGT1A6S; hUG-BR1; UDPGT 1-6

基因 ID: 54578 | 基因类型: protein coding

关于 UGT1A6

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:233,691,702-233,773,300 (from NCBI)

This gene has 8 transcripts (splice variants), 1231 orthologues and 21 paralogues.

功能概要

该基因编码一种 UDP-葡萄糖醛酸转移酶,一种葡萄糖醛酸化途径的酶,可将类固醇、胆红素、激素和药物等亲脂性小分子转化为水溶性、可分泌的代谢物。该基因是编码多种 UDP-葡糖醛酸转移酶的复杂基因座的一部分。该基因座包括十三个独特的备用第一外显子,后跟四个共同外显子。四个交替的第一外显子被认为是假基因。其余九个 5' 外显子中的每一个都可以剪接至四个共同外显子,从而产生具有不同 N 末端和相同 C 末端的九种蛋白质。每个第一外显子编码底物结合位点,并由其自身的启动子调节。由该基因编码的酶对酚类化合物和平面化合物具有活性。该基因独特的 5' 端的选择性剪接会产生两种转录本变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a UDP-glucuronosyltransferase, an Enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as Steroids, bilirubin, Hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The Enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. [provided by RefSeq, Jul 2008]

UGT1A6 基因产物(2)

mRNA Protein Name
NM_001072.4 NP_001063.2 UDP-glucuronosyltransferase 1月6日 isoform 1 precursor
NM_205862.3 NP_995584.1 UDP-glucuronosyltransferase 1月6日 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables enzyme binding IPI
IPI: 通过物理相互作用推断
17179145 GOA
enables glucuronosyltransferase activity IDA
IDA: 通过直接分析推断
22579593 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
20610558 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
17179145 GOA
NOT enables retinoic acid binding IDA
IDA: 通过直接分析推断
20308471 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular glucuronidation IDA
IDA: 通过直接分析推断
22579593 GOA
involved in xenobiotic metabolic process IDA
IDA: 通过直接分析推断
3141926 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
17179145 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

UGT1A6 蛋白结构

UDPGT

UDPGT: UDP-glucoronosyl and UDP-glucosyl transferase (27 - 523)

  • 0
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  • 500
  • 532 a.a.
蛋白主名 其他名称

UDP-glucuronosyltransferase 1-6

Bilirubin-specific UDPGT isozyme 1

关联疾病

疾病名称 别名
Crigler-Najjar Syndrome, Type I

Crigler-Najjar Syndrome

Crigler-Najjar Syndrome Type 1

Bilirubin Udp Glucuronyl Transferase Deficiency

Crigler Najjar Syndrome

Crigler Najjar Syndrome, Type 1

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency

Bilirubin-Ugt Deficiency

Hyperbilirubinemia, Crigler-Najjar Type I

Hblrcn1

Familial Nonhemolytic Unconjugated Hyperbilirubinemia

Hereditary Unconjugated Hyperbilirubinemia

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1

Bilirubin-Ugt Deficiency Type 1

Crigler-Najjar Syndrome 1

CN1

Cn-I

Crigler-Najjar Syndrome Type I

Hereditary Unconjugated Hyperbilirubinaemia

Ugt Deficiency

Bilirubin Glucuronosyltransferase Deficiency

Crigler-Najjar Disease Or Syndrome

Deficiency Of Glucuronosyltransferase

Glucuronyl Transferase Deficiency

Glucuronyltransferase Deficiency

Udp Glucuronyl Transferase Deficiency

Cns - [Crigler-Najjar Syndrome]

Congenital Familial Nonhemolytic Jaundice

Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia

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

Bilirubin, Serum Level Of, Quantitative Trait Locus 1

Bilirubin, Serum Level Of, Qtl1

BILIQTL1

Bilirubin, Serum Level Of, Quantitative Trait Locus, Type 1

Hyperbilirubinemia, Transient Familial Neonatal

Lucey-Driscoll Syndrome

Transient Familial Neonatal Hyperbilirubinemia

HBLRTFN

Hyperbilirubinemia, Familial Transient Neonatal

Hyperbilirubinemia Transient Familial Neonatal

Transient Familial Hyperbilirubinemia

Crigler-Najjar Syndrome, Type Ii

Crigler-Najjar Syndrome Type 2

Hyperbilirubinemia, Crigler-Najjar Type Ii

Hblrcn2

Arias Syndrome

Crigler Najjar Syndrome Type 2

Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2

Bilirubin-Ugt Deficiency Type 2

Crigler-Najjar Syndrome 2

CN2

Cn-Ii

Crigler-Najjar Syndrome Type Ii

Crigler Najjar Syndrome, Type 2

Cholelithiasis
Kernicterus

Bilirubin Encephalopathy

Hyperbilirubinemic Encephalopathy

Kernicterus Spectrum Disorder

Pigmentation Disease

Pigmentation Disorders

Skin Pigmentation Disorder

Neonatal Jaundice

Neonatal Hyperbilirubinemia

Neonatal Icterus

Jaundice Neonatal

Jaundice, Neonatal

Hyperbilirubinemia, Neonatal

Dihydropyrimidine Dehydrogenase Deficiency

Dpd Deficiency

Familial Pyrimidinemia

Hereditary Thymine-Uraciluria

Dihydropyrimidinuria

Dpyd Deficiency

Thymine-Uraciluria, Hereditary

Pyrimidinemia, Familial

5-Fluorouracil Toxicity

Dihydrouracil Dehydrogenase Deficiency

Familial Pyrimidinaemia

Thymine-Uracilurea

Familial Pyrimidemia

Pyrimidinemia Familial

DPYDD

Acetaminophen Metabolism
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism

Malouf Syndrome

Najjar Syndrome

Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

Cardiogenital Syndrome

Genital Anomaly With Cardiomyopathy

Cardiomyopathy With Primary Testicular Failure

Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism

Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism

Cardiomyopathy, Dilated, With Premature Ovarian Failure

Cardiomyopathy Eith Primary Testicular Failure

Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism

Dilated Cardiomyopathy With Premature Ovarian Failure

CMDHH

Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism

Cardiomyopathy Dilated With Premature Ovarian Failure

Nephrotic Syndrome, Type 20

NPHS20

Nephrotic Syndrome Type 20

Nephrotic Syndrome 20

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

Glucosephosphate Dehydrogenase Deficiency

G6pd Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency

Deficiency Of Glucose-6-Phosphate Dehydrogenase

Glucose 6 Phosphate Dehydrogenase Deficiency

Deficiency Of G-6pd

G6pdd

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Autosomal Dominant Beta Thalassemia

Inclusion Body Beta-Thalassemia

Sickle Cell Anemia

Hemoglobin Sc Disease

Anemia, Sickle Cell

Hbsc Disease

Sickle Cell-Hemoglobin C Disease Syndrome

Hb Ss Disease

Sickle Cell Trait

Drepanocytosis

Haemoglobin Sc Disease

Hb Sc Disease

Hb-S/Hb-C Disease

Hb-Ss Disease Without Crisis

Hemoglobin S Disease Without Crisis

Sickle Cell Anaemia

Sickle-Cell/Hb-C Disease Without Crisis

Sickle Cell - Hemoglobin C Disease

Hbs Disease

Hemoglobin S Disease

Sickling Disorder Due To Hemoglobin S

SKCA

Sickle Cell Disease

Sickle Cell-Hemoglobin C Disease

Sickle-Cell Disease Carrier

Sickle-Cell Heterozygous Disorder

Haemoglobin A-S Genotype

Hb-S - [Sickle Cell Haemoglobin] Carrier

Sickle Cell Haemoglobin Trait

As - [Sickle Cell Trait]

Hbas - [Sickle Cell Haemoglobin Trait]

Sickle-Cell Trait Haemoglobin Disease

Haemoglobin Sickle Cell Trait Disorder

Heterozygous Sickle Cell Trait

Hbas - [Heterozygous Haemoglobin S]

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

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
Rattus norvegicus UGT1A6 RGD RGD:620949