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

    Gene ID: 116150, updated on 7-Jan-2024

    Summary

    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
    NEW
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    Genomic context

    See NUS1 in Genome Data Viewer
    Location:
    6q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (117675469..117710727)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (118859707..118894963)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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_138459.5NP_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:120293
      UppS; Undecaprenyl pyrophosphate synthase [Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)