2. Gene
  3. GALT - galactose-1-phosphate uridylyltransferase Gene

GALT - galactose-1-phosphate uridylyltransferase Gene

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

中文名称：1-磷酸半乳糖尿苷酰转移酶

种属: Homo sapiens

基因 ID: 2592 | 基因类型: protein coding

关于 GALT

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,646,675-34,651,035 (from NCBI)

This gene has 29 transcripts (splice variants), 168 orthologues and is associated with 3 phenotypes. Ubiquitous expression in duodenum (RPKM 23.8), liver (RPKM 21.4) and 25 other tissues.

功能概要

半乳糖-1-磷酸尿苷酰转移酶 (GALT) 催化半乳糖代谢的 Leloir 途径的第二步，即 UDP-葡萄糖 + 半乳糖-1-磷酸转化为葡萄糖-1-磷酸 + UDP-半乳糖。缺乏这种酶会导致人类典型的半乳糖血症，如果不从饮食中去除乳糖，新生儿期可能会致命。半乳糖血症的病理生理学尚未明确定义。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2012 年 4 月]

Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this Enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GALT 基因产物(2)

mRNA Protein Name
NM_000155.4 NP_000146.2 galactose-1-phosphate uridylyltransferase isoform 1
NM_001258332.2 NP_001245261.1 galactose-1-phosphate uridylyltransferase 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 UDP-glucose:hexose-1-phosphate uridylyltransferase activity EXP
EXP: 通过实验结果推断
1897530 GOA
enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity IDA
IDA: 通过直接分析推断
27005423 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
27005423 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in UDP-glucose metabolic process IDA
IDA: 通过直接分析推断
27005423 GOA
involved in galactose metabolic process IDA
IDA: 通过直接分析推断
27005423 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
20605918 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

GALT 蛋白结构

GalP_UDP_transf

GalP_UDP_transf: Galactose-1-phosphate uridyl transferase, N-terminal domain (23 - 196)

GalP_UDP_tr_C

GalP_UDP_tr_C: Galactose-1-phosphate uridyl transferase, C-terminal domain (203 - 368)

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

galactose-1-phosphate uridylyltransferase

UDP-glucose--hexose-1-phosphate uridylyltransferase

GALT 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
GALT P07902 GRPEL1 Homo sapiens Q9HAV7
Validated Y2H
32296183
种属内
GALT P07902 KRTAP6-2 Homo sapiens Q3LI66
Y2H Prey Pooling
32296183
种属内
GALT P07902 KRTAP6-2 Homo sapiens Q3LI66
Validated Y2H
32296183
种属内
GALT P07902 KRTAP6-2 Homo sapiens Q3LI66
Y2H Array
32296183
种属内
GALT P07902 TNK2 Homo sapiens Q07912-2
Y2H Array
25910212
种属内
GALT P07902 TNK2 Homo sapiens Q07912-2
Y2H Bait-Prey Pool
25910212
种属内
GALT P07902 TNK2 Homo sapiens Q07912-2
Validated Y2H
25910212
种属内
GALT P07902 UBTD2 Homo sapiens Q8WUN7
Validated Y2H
32296183
种属内
GALT P07902 UBTD2 Homo sapiens Q8WUN7
Y2H Array
32296183
种属内
GALT P07902 UBTD2 Homo sapiens Q8WUN7
Y2H Prey Pooling
32296183
种属内
GALT P07902 TRIP13 Homo sapiens Q15645
Y2H Array
26871637
种属内
GALT P07902 TRIP13 Homo sapiens Q15645
Validated Y2H
26871637
种属内
GALT P07902 TRIP13 Homo sapiens Q15645
Y2H Pooling
16189514
种属内
GALT P07902 TRIP13 Homo sapiens Q15645
Y2H Prey Pooling
26871637
种属内
GALT P07902 NQO1 Homo sapiens P15559
Validated Y2H
32296183
种属内
GALT P07902 NQO1 Homo sapiens P15559
Y2H Array
32296183
种属内
GALT P07902 NQO1 Homo sapiens P15559
Y2H Prey Pooling
32296183
种属内
GALT P07902 TNK2 Homo sapiens Q07912
Validated Y2H
25416956
种属内
GALT P07902 TNK2 Homo sapiens Q07912
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

GALT 抗体

目录号 产品名 应用 反应物种
HY-P83180 GALT Antibody (YA2925) WB, IP Human, Mouse, Rat

关联疾病

疾病名称 别名
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
Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos
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]
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
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Lens Subluxation

Subluxation Of Lens
Ovarian Disease

Ovarian Dysfunction

Ovarian Diseases

Ovarian Disorders

Disorder Of Endocrine Ovary
Premature Ovarian Failure 1

Ovarian Failure, Premature

Fmr1-Related Primary Ovarian Insufficiency

Fragile X-Associated Primary Ovarian Insufficiency

POF1

Pofx

Hypergonadotropic Ovarian Failure, X-Linked

Pof

Primary Ovarian Insufficiency, Fragile X-Associated

Primary Ovarian Insufficiency 1

Ovarian Failure Premature

Premature Ovarian Failure, X-Linked

Fragile X Premature Ovarian Failure

Fmr1-Related Premature Ovarian Failure

Familial Premature Ovarian Failure

Idiopathic Familial Premature Ovarian Failure

Fxpoi

X-Linked Hypergonadotropic Ovarian Failure

Hypergonadotropic Ovarian Failure X-Linked

Poi

Premature Ovarian Failure X-Linked

Primary Ovarian Insufficiency

Premature Ovarian Failure-1

Ovarian Failure, Premature, Type 1

Premature Ovarian Failure, Familial

Premature Menopause

Primary Hypogonadism

Turner Syndrome
Hypotonia
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 (27)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-114364 UDP-Galactose disodium Agonist 99.42% 否
HY-E70289 Bovin beta-1,4-galactosyltransferase 1 (Y289L) / 否
HY-E70046 β-1,4-Galactosyltransferase, neisseria meningitides 90.00% 否
HY-E70052 alpha-1,3-Galactosyltransferase (a1,3GalT) / 否
HY-E70047 alpha-1,4-Galactosyltransferase (LgtC) / 否
HY-E70285 beta-1,4-Galactosyltransferase 1 (Y285L) / 否
HY-RS01323 B4GALT5 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-149125 Globotriaosylceramide (porcine RBC) Inhibitor / 否
HY-170663 β-1,4-GALT1-IN-1 Inhibitor / 否
HY-E70060 beta-1,4-Galactosyltransferase (LgtE) / 否
HY-P2991 Galactose 1-phosphate uridylyltransferase / 否
HY-RS00012 A3GALT2 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00013 A4GALT Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01302 B3GALT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01303 B3GALT2 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01304 B3GALT4 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01305 B3GALT5 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01306 B3GALT6 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01319 B4GALT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01320 B4GALT2 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01321 B4GALT3 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01322 B4GALT4 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01324 B4GALT6 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01325 B4GALT7 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01707 C1GALT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01708 C1GALT1C1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS05267 GALT Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris GALT VGNC VGNC:41103
Bos taurus GALT VGNC VGNC:29242
Rattus norvegicus GALT RGD RGD:1306483
Felis catus GALT VGNC VGNC:97443
Mus musculus GALT MGD MGI:95638
Others GALT NCBI
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z