Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
116150
Gene name Gene Name - the full gene name approved by the HGNC.
NUS1 dehydrodolichyl diphosphate synthase subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NUS1
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf68, CDG1AA, MGC:7199, MRD55, NgBR, TANGO14
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG1AA, MRD55
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0004659 Function Prenyltransferase activity IDA 25066056
GO:0005515 Function Protein binding IPI 21572394
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IDA 19723497
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610463 21042 ENSG00000153989
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Congenital disorder of glycosylation CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)
25066056, 30348779
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Diabetes Diabetes GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
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