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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital bilateral perisylvian syndrome Likely pathogenic rs2482016013 RCV003445286
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (21 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (17 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NUS1-related disorder Likely pathogenic rs746614172, rs2481983903 RCV003416811
RCV003963907
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ataxia Ataxia Pubtator 31656175 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 31442237
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25075030, 25173099, 29373839, 30208932
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24223763, 25173099, 29373839, 30208932 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 24223763, 30208932 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Breast Ductal carcinoma of breast Pubtator 25173099 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30208932 Associate
★☆☆☆☆
Found in Text Mining only