2. Gene
  3. GALE - UDP-galactose-4-epimerase Gene

GALE - UDP-galactose-4-epimerase Gene

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

中文名称：UDP-半乳糖-4-差向异构酶

种属: Homo sapiens

同用名: SDR1E1

基因 ID: 2582 | 基因类型: protein coding

关于 GALE

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:23,795,599-23,800,754 (from NCBI)

This gene has 16 transcripts (splice variants), 197 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in stomach (RPKM 46.3), duodenum (RPKM 23.9) and 19 other tissues.

功能概要

该基因编码 UDP-galactose-4-epimerase，它催化两个不同但相似的反应：UDP-葡萄糖差向异构化为 UDP-半乳糖，以及 UDP-N-乙酰葡糖胺差向异构化为 UDP-N-乙酰半乳糖胺。该酶的双功能特性具有重要的代谢结果，即突变细胞 (或个体) 不仅依赖于外源性半乳糖，而且还依赖于外源性 N-乙酰半乳糖胺作为合成糖蛋白和糖脂的必要前体。该基因的突变导致差向异构酶缺陷型半乳糖血症，也称为 3 型半乳糖血症，一种以肝损伤、早发性白内障、耳聋和认知障碍为特征的疾病，症状从轻度 (“外周”形式) 到重度不等 ( '广义'形式) 。已经鉴定出编码相同蛋白质的多个可变剪接转录物。[RefSeq 提供，2008 年 7 月]

This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the Enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

GALE 基因产物(3)

mRNA Protein Name
NM_000403.4 NP_000394.2 UDP-glucose 4-epimerase
NM_001008216.2 NP_001008217.1 UDP-glucose 4-epimerase
NM_001127621.2 NP_001121093.1 UDP-glucose 4-epimerase

GALE 蛋白结构

Epimerase

Epimerase: NAD dependent epimerase/dehydratase family (5 - 270)

(283 - 344)

  • 0
  • 100
  • 200
  • 300
  • 348 a.a.
蛋白主名 其他名称

UDP-glucose 4-epimerase

UDP galactose-4'-epimerase

GALE 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
GALE Q14376 GALE Homo sapiens Q14376
Y2H Array
31515488
种属内
GALE Q14376 GALE Homo sapiens Q14376
Y2H Array
25502805
种属内
GALE Q14376 GALE Homo sapiens Q14376
Y2H Prey Pooling
32296183
种属内
GALE Q14376 GALE Homo sapiens Q14376
Validated Y2H
32296183
种属内
GALE Q14376 GALE Homo sapiens Q14376
Y2H Array
25416956
种属内
GALE Q14376 GALE Homo sapiens Q14376
Y2H Array
32296183
种属内
GALE Q14376 NSF Homo sapiens P46459
Anti Tag CoIP
33961781
种属内
GALE Q14376 KLHL24 Homo sapiens Q6TFL4
Anti Tag CoIP
33961781
种属内
GALE Q14376 GALE Homo sapiens Q14376
Y2H Pooling
16189514
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 GALE 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70418 UDP-glucose 4-epimerase/GALE Protein, Human (His) Q14376-1 (M1-A348) ≥95%

关联疾病

疾病名称 别名
Galactosemia Iii

Galactose Epimerase Deficiency

Gale Deficiency

Udp-Galactose-4-Epimerase Deficiency

Epimerase Deficiency Galactosemia

Galactosemia Type 3

Gale-D

Uridine Diphosphate Galactose-4-Epimerase Deficiency

GALAC3

Galactosemia 3

Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency

Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency

Galactosemia Type Iii

Udp-Galactose-4'-Epimerase Deficiency

Generalized Galactose Epimerase Deficiency

Generalized Gale Deficiency

Generalized Gale-D

Generalized Udp-Galactose-4-Epimerase Deficiency

Generalized Epimerase Deficiency Galactosemia

Erythrocyte Galactose Epimerase Deficiency

Erythrocyte Gale Deficiency

Erythrocyte Gale-D

Erythrocyte Udp-Galactose-4-Epimerase Deficiency

Erythrocyte Epimerase Deficiency Galactosemia

Galactosemias

Classical Galactosemia

Udpglucose 4-Epimerase Deficiency Disease
Galactosemia I

Galactosemia

Galt Deficiency

Classic Galactosemia

Galactose-1-Phosphate Uridylyltransferase Deficiency

Galactose-1-Phosphate Uridyltransferase Deficiency

GALAC1

Galactosemia, Classic

Galactosemia Type 1

Galactosemias

Classical Galactosemia

Galactosaemia

Galactose Intolerance

Epimerase Deficiency Galactosemia

Galactokinase Deficiency Disease

Galactose Epimerase Deficiency

Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

Gale Deficiency

Galk Deficiency

Udp-Galactose-4-Epimerase Deficiency Disease

Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

Galactosemia 1

Galactosemia, Duarte Variant

Deficiency Of Galactokinase

Udpglucose 4-Epimerase Deficiency Disease

Classical Galactosaemia

Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

Classic Galactosaemia

Deficiency Of Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

Deficiency Of Galactose-1-Phosphate Uridylyltransferase

Galactose-1-Phosphate Uridyl Transferase Deficiency

Transferase Deficiency Galactosemia

Deficiency Of Uridyl Transferase

Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Guillain-Barre Syndrome

Guillain-Barré Syndrome

Acute Inflammatory Polyneuropathy

Gbs

Acute Inflammatory Demyelinating Polyneuropathy

Acute Inflammatory Demyelinating Polyradiculoneuropathy

Acute Infective Polyneuritis

Acute Inflammatory Demyelinating Polyradiculopathy

Acute Postinfectious Polyneuropathy

Infectious Neuronitis

Post-Infectious Polyneuritis

Postinfectious Polyneuritis

Acute Autoimmune Peripheral Neuropathy

Acute Immune-Mediated Polyneuropathy

Acute Inflammatory Neuropathy

Guillain-Barré-Strohl Syndrome

Landry'S Ascending Paralysis

Landry-Guillain-Barre-Strohl Syndrome

Post-Infective Polyneuritis

Acute Infectious Polyneuritis

Fisher Syndrome

Landry-Guillain-Barre Syndrome

Guillain-Barre-Strohl Syndrome

Variant Of Guillain-Barre Syndrome

Variant Of Gbs

Aidp

Acute Idiopathic Demyelinating Polyneuropathy

Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

Miller Fisher Syndrome
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Galactosemia Ii

Galactokinase Deficiency

Galk Deficiency

Galactokinase Deficiency With Cataracts

Deficiency Of Galactokinase

GALAC2

Galk-D

Galactokinase Deficiency Galactosemia

Galactosemia 2

Galactosemia Type 2

Hereditary Galactokinase Deficiency

Galactokinase Deficiency, Cataract

Galactosemias

Galk - [Galactokinase Deficiency]
Paratyphoid Fever

Paratyphoid B Fever

Paratyphoid C Fever

Paratyphoid Fever A

Paratyphoid Fever B

Paratyphoid Fever C

Paratyphoid

Paratyphoid A

Paratyphoid A Fever

Paratyphoid B

Paratyphoid C

Infection Due To Salmonella Paratyphi
Spherocytosis, Type 3

Hereditary Spherocytosis Type 3

SPH3

Hs3

Spherocytosis, Hereditary, 3

Hereditary Spherocytosis 3

Spherocytosis 3
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-E70021 UDP-Glc 4-epimerase (GalE) / 否
HY-RS05242 GALE Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GALE RGD RGD:621493
Bos taurus GALE VGNC VGNC:29218
Felis catus GALE VGNC VGNC:62438
Macaca mulatta GALE VGNC VGNC:72868
Mus musculus GALE MGD MGI:1921496
Canis familiaris GALE VGNC VGNC:41080
Macaca fascicularis GALE NCBI NCBI:101865832
Others GALE NCBI
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