NUS1 - NUS1 dehydrodolichyl diphosphate synthase subunit Gene

Homo sapiens

Also known as NgBR; MRD55; CDG1AA; C6orf68; TANGO14; MGC:7199

Gene ID: 116150 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_138459.5	NP_612468.1	dehydrodolichyl diphosphate synthase complex subunit NUS1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables dehydrodolichyl diphosphate synthase activity	IDA IDA: Inferred from direct assay	28842490	GOA
contributes to prenyltransferase activity	IDA IDA: Inferred from direct assay	25066056	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21572394	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within dolichol biosynthetic process	IMP IMP: Inferred from mutant phenotype	25066056	GOA
involved in dolichyl diphosphate biosynthetic process	IDA IDA: Inferred from direct assay	28842490	GOA
involved in positive regulation of blood vessel endothelial cell migration	IMP IMP: Inferred from mutant phenotype	28602162	GOA
involved in positive regulation of nitric-oxide synthase activity	IMP IMP: Inferred from mutant phenotype	28602162	GOA
acts upstream of or within regulation of intracellular cholesterol transport	IGI IGI: Inferred from genetic interaction	19723497	GOA
involved in vascular endothelial growth factor signaling pathway	IMP IMP: Inferred from mutant phenotype	28602162	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of dehydrodolichyl diphosphate synthase complex	IDA IDA: Inferred from direct assay	28842490	GOA
part of dehydrodolichyl diphosphate synthase complex	IPI IPI: Inferred from physical interaction	32817466	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	19723497	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NUS1 Protein Structure

Prenyltransf

0
100
200
293 a.a.

Protein Preferred Names

Protein Names

dehydrodolichyl diphosphate synthase complex subunit NUS1

Nogo-B receptor

NUS1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NUS1	Q96E22	DHDDS	Homo sapiens	Q86SQ9	Anti Tag CoIP	33961781
Intra	NUS1	Q96E22	C10orf95	Homo sapiens	Q9H7T3	Anti Tag CoIP	21572394

Cross: Cross-species interaction Intra: Intraspecies interaction

NUS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81669	Nogo B Receptor Antibody (YA1414)	WB	Human, Mouse, Rat

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09703	NUS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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