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

Gene ID: 116150, updated on 4-Dec-2022

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
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Genomic context

See NUS1 in Genome Data Viewer
Location:
6q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (117675469..117710727)
110 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 Sharpr-MPRA regulatory region 8561 Neighboring gene nephrocan, pseudogene Neighboring gene uncharacterized LOC101927919 Neighboring gene uncharacterized LOC124901480 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

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 

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)

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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_138459.5NP_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
    O00251, Q96E22
    Related
    ENSP00000357480.3, ENST00000368494.4
    Conserved Domains (1) summary
    COG0020
    Location:120293
    UppS; Undecaprenyl pyrophosphate synthase [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)