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
168353002006Identification of a receptor necessary for Nogo-B stimulated chemotaxis and morphogenesis of endothelial cells.57
215723942011Nogo-B receptor is necessary for cellular dolichol biosynthesis and protein N-glycosylation.34
197234972009Nogo-B receptor stabilizes Niemann-Pick type C2 protein and regulates intracellular cholesterol trafficking.29
250660562014Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.26
242237632013Expression of NgBR is highly associated with estrogen receptor alpha and survivin in breast cancer.19
268404572016Nogo-B receptor promotes the chemoresistance of human hepatocellular carcinoma via the ubiquitination of p53 protein.16
251730992015Comprehensive proteome quantification reveals NgBR as a new regulator for epithelial-mesenchymal transition of breast tumor cells.14
177640142007NOGO is increased and binds to BACE1 in sporadic inclusion-body myositis and in A beta PP-overexpressing cultured human muscle fibers.13
303487792018Coding mutations in NUS1 contribute to Parkinson's disease.12
286021622017Endothelial miR-26a regulates VEGF-Nogo-B receptor-mediated angiogenesis.10

Citation

Dessen P

NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-09-01

Online version: http://atlasgeneticsoncology.org/gene/54853/nus1