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  2. NUS1 - NUS1 dehydrodolichyl diphosphate synthase subunit Gene

NUS1 - NUS1 dehydrodolichyl diphosphate synthase subunit Gene

中文名称:NUS1 脱氢二萜二磷酸合酶亚基

种属: Homo sapiens

同用名: NgBR; MRD55; CDG1AA; C6orf68; TANGO14; MGC:7199

基因 ID: 116150 | 基因类型: protein coding

关于 NUS1

Cytogenetic location: 6q22.1 Genomic coordinates (GRCh38): 6:117,675,469-117,710,727 (from NCBI)

This gene has 1 transcript (splice variant), 220 orthologues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 25.1), appendix (RPKM 15.0) and 25 other tissues.

功能概要

该基因编码 I 型单跨膜结构域受体,它是顺式异戊二烯基转移酶的一个亚基,是神经和心血管调节剂 Nogo-B 的特异性受体。编码的蛋白质对于多萜醇合成和蛋白质糖基化至关重要。该基因在非小细胞肺癌和雌激素受体-α 阳性乳腺癌细胞中高度表达,促进上皮间质转化。该基因与人类肝细胞癌患者的不良预后有关。该基因中自然发生的突变会导致先天性糖基化障碍,并与癫痫有关。在小鼠中敲除直系同源基因会导致胚胎在第 6.5 天前死亡。该基因的假基因已在 13 号和 X 号染色体上定义。[RefSeq 提供,2017 年 5 月]

This gene encodes a type I single transmembrane domain receptor, which is a subunit of cis-prenyltransferase, and serves as a specific receptor for the neural and cardiovascular regulator Nogo-B. The encoded protein is essential for dolichol synthesis and protein glycosylation. This gene is highly expressed in non-small cell lung carcinomas as well as estrogen receptor-alpha positive breast Cancer cells where it promotes epithelial mesenchymal transition. This gene is associated with the poor prognosis of human hepatocellular carcinoma patients. Naturally occurring mutations in this gene cause a congenital disorder of glycosylation and are associated with epilepsy. A knockout of the orthologous gene in mice causes embryonic lethality before day 6.5. Pseudogenes of this gene have been defined on chromosomes 13 and X. [provided by RefSeq, May 2017]

NUS1 基因产物(1)

mRNA Protein Name
NM_138459.5 NP_612468.1 dehydrodolichyl diphosphate synthase complex subunit NUS1
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 dehydrodolichyl diphosphate synthase activity IDA
IDA: 通过直接分析推断
28842490 GOA
contributes to prenyltransferase activity IDA
IDA: 通过直接分析推断
25066056 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21572394 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of dehydrodolichyl diphosphate synthase complex IDA
IDA: 通过直接分析推断
28842490 GOA
part of dehydrodolichyl diphosphate synthase complex IPI
IPI: 通过物理相互作用推断
32817466 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
19723497 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

NUS1 蛋白结构

Prenyltransf

Prenyltransf: Putative undecaprenyl diphosphate synthase (185 - 293)

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

dehydrodolichyl diphosphate synthase complex subunit NUS1

Nogo-B receptor

NUS1 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
NUS1 Q96E22 DHDDS Homo sapiens Q86SQ9 33961781
种属内
NUS1 Q96E22 C10orf95 Homo sapiens Q9H7T3 21572394
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
Congenital Disorder Of Glycosylation, Type Iaa

CDG1AA

Congenital Disorder Of Glycosylation, Type 1aa

Congenital Disorder Of Glycosylation 1aa

Congenital Disorder Of Glycosylation Iaa

Glycosylation, Congenital Disorder Of, Type Iaa

Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures

MRD55

Mental Retardation, Autosomal Dominant 55, With Seizures

Autosomal Dominant Mental Retardation 55

Autosomal Dominant Intellectual Developmental Disorder 55

Autosomal Dominant Intellectual Developmental Disorder-55 With Seizures

Mental Retardation, Autosomal Dominant, Type 55, With Seizures

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Myoclonic Cerebellar Dyssynergia

Dyssynergia Cerebellaris Myoclonica

Progressive Cerebellar Tremor

Dentate Cerebellar Ataxia

Dentatorubral Atrophy

Dyssynergia Cerebellaris Progressiva

Myoclonus And Ataxia

Primary Dentatum Atrophy

Progressive Myoclonus Ataxia

Ramsay Hunt Cerebellar Syndrome

Ramsay Hunt Syndrome Type 1

Developmental And Epileptic Encephalopathy 36

Congenital Disorder Of Glycosylation Type I

Epileptic Encephalopathy, Early Infantile, 36

Congenital Disorder Of Glycosylation, Type Is

Cdg1s

Congenital Disorder Of Glycosylation, Type Ie

CDG1E

Congenital Disorder Of Glycosylation Type 1e

DEE36

Eiee36

Cdg Is

Cdgis

Congenital Disorder Of Glycosylation Ie

Congenital Disorder Of Glycosylation 1e

Cdg-Is

Congenital Disorder Of Glycosylation Type Is

Developmental And Epileptic Encephalopathy, 36

Cdg Ie

Cdgie

Early Infantile Epileptic Encephalopathy 36

Alg13-Cdg

Cdg Syndrome Type Is

Congenital Disorder Of Glycosylation Type 1s

Dpm1-Cdg

Cdg Syndrome Type Ie

Cdg-Ie

Carbohydrate Deficient Glycoprotein Syndrome Type Ie

Congenital Disorder Of Glycosylation Type Ie

Dol-P-Mannosyltransferase Deficiency

Congenital Disorder Of Glycosylation 1s

Glycosylation, Congenital Disorder Of, Type I

Glycosylation, Congenital Disorder Of, Type Ie

Congenital Disorder Of Glycosylation Type 1a

Congenital Disorder Of Glycosylation, Type Iu

Rapidly Involuting Congenital Hemangioma

Rich

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Scoliosis
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

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

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Felis catus NUS1 VGNC VGNC:63931
Mus musculus NUS1 MGD MGI:1196365
Bos taurus NUS1 VGNC VGNC:106851
Rattus norvegicus NUS1 RGD RGD:1307879
Canis familiaris NUS1 VGNC VGNC:44066
Macaca mulatta NUS1 VGNC VGNC:104418