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

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor.
Title: NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor.
Replication assessment of NUS1 variants in Parkinson's disease.
Title: Replication assessment of NUS1 variants in Parkinson's disease.
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.
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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-104939 (e-PCR)
- UniSTS:169034

RH98866 (e-PCR)
- UniSTS:91467

G22117 (e-PCR)
- UniSTS:80481

SHGC-34264 (e-PCR)
- UniSTS:62610

SHGC-78764 (e-PCR)
- UniSTS:100809

D13S874E (e-PCR)
- UniSTS:151537

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

EC 2.5.1.87

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

NG_054913.2 RefSeqGene

Range

5016..40274

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]