NUS1

NUS1
Identifiers
Aliases	NUS1 , C6orf68, MGC:7199, NgBR, TANGO14, NUS1 dehydrodolichyl diphosphate synthase subunit, CDG1AA, MRD55, dehydrodolichyl diphosphate synthase subunit
External IDs	OMIM: 610463; MGI: 1196365; HomoloGene: 12719; GeneCards: NUS1; OMA:NUS1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6q22.1 Start 117,675,469 bp [1] End 117,710,727 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10 B3|10 26.64 cM Start 52,293,643 bp [2] End 52,316,279 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endometrium tibia islet of Langerhans skin of arm cartilage tissue mucosa of ileum oocyte mucosa of nose nasal epithelium cardiac muscle tissue of right atrium Top expressed in human kidney stroma of bone marrow parotid gland secondary oocyte Epithelium of choroid plexus olfactory tubercle endothelial cell of lymphatic vessel seminal vesicula efferent ductule globus pallidus More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity protein binding prenyltransferase activity transferase activity, transferring alkyl or aryl (other than methyl) groups molecular function dehydrodolichyl diphosphate synthase activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane endoplasmic reticulum dehydrodolichyl diphosphate synthase complex Biological process cell differentiation dolichol biosynthetic process regulation of intracellular cholesterol transport sterol homeostasis multicellular organism development protein glycosylation angiogenesis protein mannosylation cholesterol homeostasis vascular endothelial growth factor signaling pathway positive regulation of blood vessel endothelial cell migration positive regulation of nitric-oxide synthase activity dolichyl diphosphate biosynthetic process lipid metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 116150 52014 Ensembl ENSG00000153989 ENSMUSG00000023068 UniProt Q96E22 Q99LJ8 RefSeq (mRNA) NM_138459 NM_030250 RefSeq (protein) NP_612468 NP_084526 Location (UCSC) Chr 6: 117.68 – 117.71 Mb Chr 10: 52.29 – 52.32 Mb PubMed search [3] [4]
Wikidata
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Nuclear undecaprenyl pyrophosphate synthase 1 homolog (NUS1), or dehydrodolichyl diphosphate synthase complex subunit NUS1, or Nogo-B receptor (NgBR) is a protein that in humans is encoded by the NUS1 gene. ^[5] Mutations within the NUS1 gene lead to a diagnosis of an NUS1 genetic disorder. ^[6]

Gene

In humans NUS1 is located on is a chromosome 6q22.1. ^[5]

Clinical significance

If both copies of the NUS1 gene bear a mutation, the severe and rare disorder NUS1-CDG can occur. However, most patients only present with a mutation on one copy of the gene; this nevertheless causes a progressive neurological condition. ^[6] Mutations of the NUS1 gene are associated with epilepsy, intellectual disability, and mild cerebellar ataxia. ^[7]

NUS1 has been identified as a potential candidate gene for Parkinson's disease in Han Chinese people. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000153989 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000023068 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "NUS1 ehydrodolichyl diphosphate synthase subunit [ Homo sapiens (human) ]". National Library of Medicine. 11 June 2025. Retrieved 23 June 2025.
6. "What is NUS1". NUS1 Foundation. Retrieved 23 June 2025.
7. Riboldi GM, Monfrini E, Stahl C, Frucht SJ (2022). "NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?". Tremor and Other Hyperkinetic Movements. 12 (1). New York, N.Y.: 21. doi: 10.5334/tohm.696 . PMC   9205445 . PMID   35949226.
8. Cherian A, Divya KP, Vijayaraghavan A (August 2023). "Parkinson's disease - genetic cause". Current Opinion in Neurology. 36 (4): 292–301. doi:10.1097/WCO.0000000000001167. PMID   37366140.