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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
    mouse all
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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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    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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