Gene Gene information from NCBI Gene database.
Entrez ID 116150
Gene name NUS1 dehydrodolichyl diphosphate synthase subunit
Gene symbol NUS1
Synonyms (NCBI Gene)
C6orf68CDG1AAMGC:7199MRD55NgBRTANGO14
Chromosome 6
Chromosome location 6q22.1
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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1554202698 A>- Pathogenic Coding sequence variant, frameshift variant
rs1582477100 G>A Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
738
miRTarBase ID miRNA Experiments Reference
MIRT019772 hsa-miR-375 Microarray 20215506
MIRT028256 hsa-miR-32-5p Sequencing 20371350
MIRT048373 hsa-miR-29b-3p CLASH 23622248
MIRT048067 hsa-miR-197-3p CLASH 23622248
MIRT042087 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0004659 Function Prenyltransferase activity IDA 25066056
GO:0004659 Function Prenyltransferase activity IEA
GO:0005515 Function Protein binding IPI 21572394, 32817466, 33961781
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610463 21042 ENSG00000153989
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96E22
Protein name Dehydrodolichyl diphosphate synthase complex subunit NUS1 (EC 2.5.1.87) (Cis-prenyltransferase subunit NgBR) (Nogo-B receptor) (NgBR) (Nuclear undecaprenyl pyrophosphate synthase 1 homolog)
Protein function With DHDDS, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery (PubMed:21572394, PubMed:25066056, PubMed:28842490, PubMed:32817466, PubMed:33077723).
PDB 6W2L , 6Z1N , 7PAX , 7PAY , 7PB0 , 7PB1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01255 Prenyltransf 163 292 Putative undecaprenyl diphosphate synthase Family
Sequence
MTGLYELVWRVLHALLCLHRTLTSWLRVRFGTWNWIWRRCCRAASAAVLAPLGFTLRKPP
AVGRNRRHHRHPRGGSCLAAAHHRMRWRADGRSLEKLPVHMGLVITEVEQEPSFSDIASL
VVWCMAVGISYISVYDHQGIFKRNNSRLMDEILKQQQELLGLDCSKYSPEFANSNDKDDQ
VLNCHLAVKVLSPEDGKADIVRAAQDFCQLVAQKQKRPTDLDVDTLASLLSSNGCPDPDL
VLKFGPVDSTLGFLPWHIRLTEIVSLPSHLNISYEDFFSALRQYAACEQRLG
K
Sequence length 293
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Terpenoid backbone biosynthesis   Synthesis of Dolichyl-phosphate
Defective DHDDS causes retinitis pigmentosa 59
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
374
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital bilateral perisylvian syndrome Likely pathogenic rs2482016013 RCV003445286
Congenital disorder of glycosylation, type IAA Likely pathogenic; Pathogenic rs2114693876, rs1449400618, rs2114693896, rs2114674385, rs2114693926, rs2114696019, rs2481983215, rs2482032088, rs2482015846, rs2482014199, rs2481983161, rs2481983883, rs2482037920, rs2481983597, rs2482015901
View all (11 more)
RCV001869602
RCV001881454
RCV001863845
RCV002037957
RCV002044991
RCV002012498
RCV002833076
RCV003017014
RCV003026038
RCV003026908
RCV003591350
RCV003591526
RCV003592169
RCV003755469
RCV003755525
RCV003755678
RCV003755815
RCV003755818
RCV003755833
RCV003755743
RCV003755955
RCV003755901
RCV000811447
RCV000987765
RCV001204153
RCV005094234
Intellectual disability, autosomal dominant 55, with seizures Likely pathogenic; Pathogenic rs2114674308, rs2114693876, rs2114693896, rs2114674415, rs2481983096, rs1407880094, rs2481983720, rs2482032266, rs2481982381, rs2482016210, rs1554200722, rs1773264504, rs2482014062, rs2481983991, rs2482037745
View all (6 more)
RCV001800267
RCV001809277
RCV005868401
RCV002273257
RCV002289483
RCV002510610
RCV003128001
RCV003447461
RCV003236701
RCV003322661
RCV003324097
RCV003334448
RCV003885421
RCV004555347
RCV004555354
RCV004594770
RCV000577851
RCV000577867
RCV000995824
RCV001580579
RCV001580577
RCV001580578
NUS1-related disorder Likely pathogenic rs746614172, rs2481983903 RCV003416811
RCV003963907
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs550676 RCV005909385
Congenital disorder of glycosylation Conflicting classifications of pathogenicity rs886037858 RCV001262137
Gastric cancer Benign; Likely benign rs550676, rs1049247260 RCV005909388
RCV005925891
Hepatocellular carcinoma Benign rs550676 RCV005909386
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 31656175
Breast Neoplasms Associate 24223763, 25173099, 29373839, 30208932
Carcinogenesis Associate 24223763, 30208932
Carcinoma Ductal Breast Associate 25173099
Carcinoma Hepatocellular Associate 30208932
Cerebellar Ataxia Associate 35949226
Congenital Disorders of Glycosylation Associate 31656175, 35949226
Developmental Disabilities Associate 40003936
Diabetes Gestational Associate 34326813
Diabetes Mellitus Type 2 Associate 34326813