NUS1 Chromosome 6
NUS1 dehydrodolichyl diphosphate synthase subunit
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What This Gene Does
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]
Gene Info
Gene Group
Dehydrodolichyl diphosphate synthase
Locus Type
gene with protein product
Location
6q22.1
Ensembl
ENSG00000153989
Associated Conditions (9)
Congenital disorder of glycosylation
type IAA
Inborn genetic diseases
Intellectual disability
autosomal dominant 55
with seizures
NUS1-related disorder
Congenital bilateral perisylvian syndrome
NUS1-related epilepsy-myoclonus-ataxia syndrome
Key Variants
RS1023259853
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IAA, Inborn genetic diseases
Health Risk
RS1460197813
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IAA, Inborn genetic diseases
Health Risk
RS146171115
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation
Health Risk
RS150646335
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IAA, Intellectual disability
Health Risk
RS2114687510
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IAA, Intellectual disability
Health Risk
RS557867164
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IAA, Inborn genetic diseases
Health Risk
RS753713015
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation
Health Risk
RS761121795
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation
Health Risk
RS772319851
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation
Health Risk
RS886037858
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type IAA, Intellectual disability
Health Risk
RS1582477100
Likely pathogenic
Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation
Health Risk
RS1772961410
Likely pathogenic
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1023259853 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IAA, Inborn genetic diseases |
| RS1460197813 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IAA, Inborn genetic diseases |
| RS146171115 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS150646335 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IAA, Intellectual disability |
| RS2114687510 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IAA, Intellectual disability |
| RS557867164 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IAA, Inborn genetic diseases |
| RS753713015 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS761121795 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS772319851 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS886037858 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type IAA, Intellectual disability |
| RS1582477100 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS1772961410 | Health Risk | Likely pathogenic | — |
| RS1773283124 | Health Risk | Likely pathogenic | — |
| RS2114674308 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS2114687537 | Health Risk | Likely pathogenic | — |
| RS2114693876 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS2481981792 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS2481982183 | Health Risk | Likely pathogenic | — |
| RS2481983096 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS2481983597 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS2481983903 | Health Risk | Likely pathogenic | NUS1-related disorder, NUS1-related disorder |
| RS2481983991 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS2482014062 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS2482015846 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS2482016013 | Health Risk | Likely pathogenic | Congenital bilateral perisylvian syndrome, Congenital bilateral perisylvian syndrome |
| RS2482016210 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS2482032232 | Health Risk | Likely pathogenic | — |
| RS2482037745 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS746614172 | Health Risk | Likely pathogenic | NUS1-related disorder, NUS1-related disorder |
| RS1407880094 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS1449400618 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS1554200722 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS1554202698 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS1582461023 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS1582461039 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1582461235 | Health Risk | Pathogenic | — |
| RS1582461267 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS1772963498 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS1773264138 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1773264504 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS1773460199 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS1773460504 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS2114674305 | Health Risk | Pathogenic | — |
| RS2114674385 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS2114674415 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS2114693926 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS2481982381 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 55, with seizures |
| RS2481982600 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS2481982643 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |
| RS2481982674 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type IAA, Congenital disorder of glycosylation |