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NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit [ Homo sapiens (human) ]

Gene ID: 116150, updated on 2-Nov-2024

Summary

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Official Symbol
NUS1provided by HGNC
Official Full Name
NUS1 dehydrodolichyl diphosphate synthase subunitprovided by HGNC
Primary source
HGNC:HGNC:21042
See related
Ensembl:ENSG00000153989 MIM:610463; AllianceGenome:HGNC:21042
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NgBR; MRD55; CDG1AA; C6orf68; TANGO14; MGC:7199
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]
Expression
Ubiquitous expression in thyroid (RPKM 25.1), appendix (RPKM 15.0) and 25 other tissues See more
Orthologs
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Genomic context

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See NUS1 in Genome Data Viewer
Location:
6q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (117675469..117710727)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (118859707..118894963)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (117996632..118031890)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:117936764-117937504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25011 Neighboring gene nephrocan, pseudogene Neighboring gene uncharacterized LOC101927919 Neighboring gene MPRA-validated peak6055 silencer Neighboring gene MPRA-validated peak6057 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25012 Neighboring gene uncharacterized LOC124901480 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:118276469-118277668 Neighboring gene solute carrier family 35 member F1 Neighboring gene ribosomal protein L29 pseudogene 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Comprehensive proteome quantification reveals NgBR as a new regulator for epithelial-mesenchymal transition of breast tumor cells. Zhao B, et al. J Proteomics, 2015 Jan 1. PMID 25173099, Free PMC Article
  2. SAXS analysis of a soluble cytosolic NgBR construct including extracellular and transmembrane domains. Holcomb J, et al. PLoS One, 2018. PMID 29346419, Free PMC Article
  3. Nogo-B receptor promotes epithelial-mesenchymal transition in non-small cell lung cancer cells through the Ras/ERK/Snail1 pathway. Wu D, et al. Cancer Lett, 2018 Apr 1. PMID 29331415, Free PMC Article
  4. NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor. Araki K, et al. Epilepsy Res, 2020 Aug. PMID 32485575
  5. Assessment of the association between NUS1 variants and essential tremor. Yang HL, et al. Neurosci Lett, 2021 Jan 1. PMID 33184037

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation.
    Title: NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation.
  2. Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.
    Title: Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.
  3. Nogo-B receptor increases glycolysis and the paclitaxel resistance of estrogen receptor-positive breast cancer via the HIF-1alpha-dependent pathway.
    Title: Nogo-B receptor increases glycolysis and the paclitaxel resistance of estrogen receptor-positive breast cancer via the HIF-1α-dependent pathway.
  4. Low-frequency and rare coding variants of NUS1 contribute to susceptibility and phenotype of Parkinson's disease.
    Title: Low-frequency and rare coding variants of NUS1 contribute to susceptibility and phenotype of Parkinson's disease.
  5. Common Variants in NUS1 and GP2 Genes Contributed to the Risk of Gestational Diabetes Mellitus.
    Title: Common Variants in NUS1 and GP2 Genes Contributed to the Risk of Gestational Diabetes Mellitus.
  6. Contribution of coding/non-coding variants in NUS1 to late-onset sporadic Parkinson's disease.
    Title: Contribution of coding/non-coding variants in NUS1 to late-onset sporadic Parkinson's disease.
  7. NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor.
    Title: NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor.
  8. Replication assessment of NUS1 variants in Parkinson's disease.
    Title: Replication assessment of NUS1 variants in Parkinson's disease.
  9. Salivary NUS1 and RCN1 Levels as Biomarkers for Oral Squamous Cell Carcinoma Diagnosis.
    Title: Salivary NUS1 and RCN1 Levels as Biomarkers for Oral Squamous Cell Carcinoma Diagnosis.
  10. NOGOB receptor-mediated RAS signaling pathway is a target for suppressing proliferating hemangioma.
    Title: NOGOB receptor-mediated RAS signaling pathway is a target for suppressing proliferating hemangioma.
Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Congenital disorder of glycosylation, type IAA
MedGen: C4310727 OMIM: 617082 GeneReviews: Not available
Compare labs
Intellectual disability, autosomal dominant 55, with seizures
MedGen: C4693371 OMIM: 617831 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2022-09-27)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2022-09-27)

ClinGen Genome Curation PagePubMed

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC7199, MGC117249

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dehydrodolichyl diphosphate synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
contributes_to prenyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cholesterol homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in dolichol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within dolichol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in dolichyl diphosphate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of blood vessel endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of nitric-oxide synthase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein mannosylation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of intracellular cholesterol transport IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in vascular endothelial growth factor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of dehydrodolichyl diphosphate synthase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of dehydrodolichyl diphosphate synthase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of dehydrodolichyl diphosphate synthase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
dehydrodolichyl diphosphate synthase complex subunit NUS1
Names
Nogo-B receptor
cis-prenyltransferase subunit NgBR
dehydrodolichyl diphosphate syntase complex subunit NUS1
di-trans,poly-cis-decaprenylcistransferase
nuclear undecaprenyl pyrophosphate synthase 1 homolog
transport and golgi organization 14 homolog
NP_612468.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054913.2 RefSeqGene

    Range
    5016..40274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_138459.5 → NP_612468.1  dehydrodolichyl diphosphate synthase complex subunit NUS1

    See identical proteins and their annotated locations for NP_612468.1

    Status: REVIEWED

    Source sequence(s)
    AL590303, Z98172
    Consensus CDS
    CCDS5118.1
    UniProtKB/Swiss-Prot
    B2RWQ4, O00251, Q96E22
    UniProtKB/TrEMBL
    B3KWI6
    Related
    ENSP00000357480.3, ENST00000368494.4
    Conserved Domains (1) summary
    COG0020
    Location:120 → 293
    UppS; Undecaprenyl pyrophosphate synthase [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    117675469..117710727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    118859707..118894963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96E22.1 GenPept UniProtKB/Swiss-Prot:Q96E22

Gene LinkOut

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