NUS1

Protein identityUniProt · HPA

UniProt accession

Q96E22

Gene

NUS1

Ensembl

ENSG00000153989

Chromosome

6

Canonical length

293 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted membrane proteins

Subcellular location

Vesicles,Plasma membrane

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

293 residues, UniProt reviewed canonical sequence.

>Q96E22|NUS1
     1  MTGLYELVWR VLHALLCLHR TLTSWLRVRF GTWNWIWRRC CRAASAAVLA PLGFTLRKPP
    61  AVGRNRRHHR HPRGGSCLAA AHHRMRWRAD GRSLEKLPVH MGLVITEVEQ EPSFSDIASL
   121  VVWCMAVGIS YISVYDHQGI FKRNNSRLMD EILKQQQELL GLDCSKYSPE FANSNDKDDQ
   181  VLNCHLAVKV LSPEDGKADI VRAAQDFCQL VAQKQKRPTD LDVDTLASLL SSNGCPDPDL
   241  VLKFGPVDST LGFLPWHIRL TEIVSLPSHL NISYEDFFSA LRQYAACEQR LGK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NUS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

3

Mean surface accessibility (rSASA)

0.37

Highest tissue expression

57 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NUS1.

Disease | AllUniProt

Conditions NUS1 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1AA (CDG1AA) MIM:617082
• Intellectual developmental disorder, autosomal dominant 55, with seizures (MRD55) MIM:617831

Disease | GeneticClinVar

86 pathogenic / likely-pathogenic of 506 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital disorder of glycosylation, type IAA
• Intellectual disability, autosomal dominant 55, with seizures
• NUS1-related disorder
• Inborn genetic diseases
• NUS1-related epilepsy-myoclonus-ataxia syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.25

gnomAD pLI

0.98

gnomAD missense Z

0.88

DepMap mean gene effect

-1.4

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• angiogenesis
• cell differentiation
• cholesterol homeostasis
• dolichyl diphosphate biosynthetic process
• dolichyl monophosphate biosynthetic process
• positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis
• positive regulation of cell migration involved in sprouting angiogenesis
• regulation of intracellular cholesterol transport
• vascular endothelial growth factor signaling pathway

Molecular functions

• ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity
• metal ion binding

Cellular components

• dehydrodolichyl diphosphate synthase complex
• endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• Decaprenyl diphosphate synthase-like
• Decaprenyl diphosphate synthase-like superfamily
• Putative undecaprenyl diphosphate synthase
• Dehydrodolichyl diphosphate synthase complex subunit Nus1

KeywordsUniProt

• Angiogenesis
• Congenital disorder of glycosylation
• Developmental protein
• Differentiation
• Endoplasmic reticulum
• Glycoprotein
• Intellectual disability
• Lipid metabolism
• Magnesium
• Membrane
• Metal-binding
• Receptor
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of NUS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NPC2