1. Gene
  2. UGDH - UDP-glucose 6-dehydrogenase Gene

UGDH - UDP-glucose 6-dehydrogenase Gene

中文名称:UDP-葡萄糖 6-脱氢酶

种属: Homo sapiens

同用名: GDH; UGD; DEE84; EIEE84; UDPGDH; UDP-GlcDH

基因 ID: 7358 | 基因类型: protein coding

关于 UGDH

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:39,498,755-39,527,439 (from NCBI)

This gene has 12 transcripts (splice variants), 215 orthologues and is associated with 1 phenotype. Broad expression in colon (RPKM 31.0), liver (RPKM 26.9) and 23 other tissues.

功能概要

该基因编码的蛋白质将 UDP-葡萄糖转化为 UDP-葡萄糖醛酸,从而参与透明质酸、硫酸软骨素和硫酸乙酰肝素等糖胺聚糖的生物合成。这些糖基化化合物是细胞外基质的常见成分,可能在信号转导、细胞迁移以及癌症生长和转移中发挥作用。该基因的表达受转化生长因子β的上调,受缺氧的影响下调。可变剪接导致多个转录变体。[RefSeq 提供,2010 年 5 月]

The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and Cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

UGDH 基因产物(3)

mRNA Protein Name
NM_001184700.2 NP_001171629.1 UDP-glucose 6-dehydrogenase isoform 2
NM_001184701.2 NP_001171630.1 UDP-glucose 6-dehydrogenase isoform 3
NM_003359.4 NP_003350.1 UDP-glucose 6-dehydrogenase isoform 1

UGDH 蛋白结构

UDPG_MGDP_dh_N

UDPG_MGDP_dh_N: UDP-glucose/GDP-mannose dehydrogenase family, NAD binding domain (5 - 190)

UDPG_MGDP_dh

UDPG_MGDP_dh: UDP-glucose/GDP-mannose dehydrogenase family, central domain (214 - 310)

UDPG_MGDP_dh_C

UDPG_MGDP_dh_C: UDP-glucose/GDP-mannose dehydrogenase family, UDP binding domain (332 - 446)

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  • 494 a.a.
蛋白主名 其他名称

UDP-glucose 6-dehydrogenase

UDP-Glc dehydrogenase

UGDH 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
UGDH O60701 TNPO1 Homo sapiens Q92973 35271311
种属内
UGDH O60701 AK5 Homo sapiens Q9Y6K8 16169070
种属内
UGDH O60701 UGDH Homo sapiens O60701 25416956
种属内
UGDH O60701 RAD51 Homo sapiens Q06609 21988832
种属内
UGDH O60701 UGDH Homo sapiens O60701
GMS
32001716
种属内
UGDH O60701 q5nge3_fratt Francisella tularensis subsp. tularensis Q5NGE3 26714771
种属内
UGDH O60701 ITGB1BP2 Homo sapiens Q9UKP3 23414517
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 84

DEE84

Jamuar Syndrome

Eiee84

Developmental And Epileptic Encephalopathy, 84

Epileptic Encephalopathy, Early Ifantile, 84

Early Infantile Epileptic Encephalopathy 84

Epileptic Encephalopathy, Early Infantile, 84

Encephalopathy, Epileptic, Early Infantile, Type 84

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

Spastic Paraplegia 76, Autosomal Recessive

SPG76

Autosomal Recessive Spastic Paraplegia Type 76

Hereditary Spastic Paraplegia 76

Autosomal Recessive Spastic Paraplegia 76

Paraplegia, Spastic, Autosomal Recessive, Type 76

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

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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
Mus musculus UGDH MGD MGI:1306785
Rattus norvegicus UGDH RGD RGD:621879
Macaca mulatta UGDH VGNC VGNC:78711
Felis catus UGDH VGNC VGNC:66805
Bos taurus UGDH VGNC VGNC:36648
Canis familiaris UGDH VGNC VGNC:48117
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