2. Gene
  3. UGT1A3 - UDP glucuronosyltransferase family 1 member A3 Gene

UGT1A3 - UDP glucuronosyltransferase family 1 member A3 Gene

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

中文名称：UDP 葡萄糖醛酸转移酶家族 1 成员 A3

种属: Homo sapiens

同用名: UDPGT; UGT1C; UGT-1C; UGT1.3; UGT1-03; UGT1A3S; UDPGT 1-3

基因 ID: 54659 | 基因类型: protein coding

关于 UGT1A3

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:233,729,042-233,773,300 (from NCBI)

This gene has 1 transcript (splice variant), 1237 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。这种酶的底物包括雌酮、2-羟基雌酮和苯并α-芘的代谢物。[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. Substrates of this Enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008]

UGT1A3 基因产物(1)

mRNA Protein Name
NM_019093.4 NP_061966.1 UDP-glucuronosyltransferase 1A3 precursor

UGT1A3 蛋白结构

UDPGT

UDPGT: UDP-glucoronosyl and UDP-glucosyl transferase (29 - 525)

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  • 534 a.a.
蛋白主名 其他名称

UDP-glucuronosyltransferase 1A3

UDP glucuronosyltransferase 1 family, polypeptide A3

关联疾病

疾病名称 别名
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
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
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
Acetaminophen Metabolism
Kernicterus

Bilirubin Encephalopathy

Hyperbilirubinemic Encephalopathy

Kernicterus Spectrum Disorder
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-124364 RO6889678 / 否
HY-RS15428 UGT1A3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus UGT1A3 MGD MGI:3576049
Rattus norvegicus UGT1A3 RGD RGD:1549741
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