NUS1 - NUS1 dehydrodolichyl diphosphate synthase subunit Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 116150

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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
HY-P81669A	Nogo B Receptor Antibody (YA1414)(PBS only)	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

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 Set	/	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
Others	NUS1	NCBI