NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit)

2014-09-01  

Identity

HGNC
NUS1
LOCATION
6q22.1
LOCUSID
116150
ALIAS
C6orf68,CDG1AA,MGC:7199,MRD55,NgBR,TANGO14

Other Information

Locus ID:

NCBI: 116150
MIM: 610463
HGNC: 21042
Ensembl: ENSG00000153989

Variants:

dbSNP: 116150
ClinVar: 116150
TCGA: ENSG00000153989
COSMIC: NUS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153989ENST00000368494Q96E22

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Terpenoid backbone biosynthesisKEGGko00900
Terpenoid backbone biosynthesisKEGGhsa00900
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Synthesis of Dolichyl-phosphateREACTOMER-HSA-446199

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
362417022023Nogo-B receptor increases glycolysis and the paclitaxel resistance of estrogen receptor-positive breast cancer via the HIF-1α-dependent pathway.2
372496652023Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.3
362417022023Nogo-B receptor increases glycolysis and the paclitaxel resistance of estrogen receptor-positive breast cancer via the HIF-1α-dependent pathway.2
372496652023Novel NUS1 variant in a Chinese patient with progressive myoclonus epilepsy: a case report and systematic review.3
346353502022Low-frequency and rare coding variants of NUS1 contribute to susceptibility and phenotype of Parkinson's disease.0
346353502022Low-frequency and rare coding variants of NUS1 contribute to susceptibility and phenotype of Parkinson's disease.0
331840372021Assessment of the association between NUS1 variants and essential tremor.1
333093332021Replication assessment of NUS1 variants in Parkinson's disease.3
334006862021NOGOB receptor-mediated RAS signaling pathway is a target for suppressing proliferating hemangioma.7
335488802021Contribution of coding/non-coding variants in NUS1 to late-onset sporadic Parkinson's disease.2
343268132021Common Variants in NUS1 and GP2 Genes Contributed to the Risk of Gestational Diabetes Mellitus.4
331840372021Assessment of the association between NUS1 variants and essential tremor.1
333093332021Replication assessment of NUS1 variants in Parkinson's disease.3
334006862021NOGOB receptor-mediated RAS signaling pathway is a target for suppressing proliferating hemangioma.7
335488802021Contribution of coding/non-coding variants in NUS1 to late-onset sporadic Parkinson's disease.2

Citation

Dessen P

NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-09-01

Online version: http://atlasgeneticsoncology.org/gene/54853