UGT1A7 - UDP glucuronosyltransferase family 1 member A7 Gene

中文名称：UDP 葡萄糖醛酸转移酶家族 1 成员 A7

种属: Homo sapiens

同用名: GNT1; UGT1; UDPGT; UGT1A; UGT1G; UGT-1A; UGT-1G; UGT1.1; UGT1.7; UGT1A1; UGT1-01; UGT1-07; hUG-BR1; UDPGT 1-7

基因 ID: 54577 | 基因类型: protein coding

关于 UGT1A7

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:233,681,901-233,773,300 (from NCBI)

This gene has 2 transcripts (splice variants), 1221 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。该基因编码的酶对酚类具有中等的葡萄糖醛酸酶活性。[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 has moderate glucuronidase activity with Phenols. [provided by RefSeq, Jul 2008]

UGT1A7 基因产物(1)

mRNA	Protein	Name
NM_019077.3	NP_061950.2	UDP-glucuronosyltransferase 1A7 precursor

UGT1A7 蛋白结构

UDPGT

0
100
200
300
400
500
530 a.a.

蛋白主名

其他名称

UDP-glucuronosyltransferase 1A7

Bilirubin-specific UDPGT isozyme 1

关联疾病

疾病名称

别名

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

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

Pancreas Disease

Abnormality Of The Pancreas

Pancreatic Diseases

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

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

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UGT1A7 - UDP glucuronosyltransferase family 1 member A7 Gene

关于 UGT1A7

功能概要

UGT1A7 基因产物(1)

UGT1A7 蛋白结构

关联疾病

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UGT1A7 - UDP glucuronosyltransferase family 1 member A7 Gene

关于 UGT1A7

功能概要

UGT1A7 基因产物(1)

UGT1A7 蛋白结构

关联疾病

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热门区域

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