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FLASH GENE
Symbol NUS1 contributors: mct - updated : 18-06-2018
HGNC name nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
HGNC id 21042
Corresponding disease
CDG1AA congenital disorder of glycosylation, type 1aa
MRD55 mental retardation, autosomal dominant 55, with seizures
Location 6q22.1      Physical location : 117.996.616 - 118.031.884
Synonym name
  • chromosome 6 open reading frame 68
  • Nogo-B receptor
  • nuclear undecaprenyl pyrophosphate synthase 1 homolog
  • transport and golgi organization 14 homolog
    • Synonym symbol(s) MGC7199, C6orf68, NGBR, MGC117249, CDG1AA, MRD55, TANGO14
    EC.number 2.5.1.87
    DNA
    TYPE functioning gene
    STRUCTURE 35.27 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 4811 33 293 - 2017 28842490
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an ectodomain intrinsically unstructured without both secondary and tertiary structures
  • a conserved hydrophobic pocket
  • while the cytoplasmic domain is only partially folded with secondary structures but without a tight tertiary packing
  • a conserved C-terminal RXG motif in the NUS1 subunit of cis-prenyltransferase is critical for prenyltransferase activity
    • HOMOLOGY
    Homologene
    FAMILY UPP synthetase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • localizes primarily to the endoplasmic reticulum (ER) and regulates the stability of nascent NPC2
    • basic FUNCTION
  • essential for stimulating chemotaxis and morphogenesis of endothelial cells
  • localizes with the ligand Nogo-B during VEGF and wound healing angiogenesis, mediates chemotaxis in a heterologous expression system and chemotaxis, and 3D tube formation in native endothelial cell
  • evidence of a role for NgBR in intracellular cholesterol trafficking
  • essential component of the dolichol monophosphate biosynthetic machinery
  • expression of NUS1 may be essential in promoting ESR1-positive tumor cell proliferation via survivin induction in breast cancer
  • mediates mediates pulmonary artery endothelial cells (PAECs) angiogenesis response through the modulation of AKT1/endothelial nitric oxide synthase functions, and its decreased expression is mechanistically linked to intrauterine pulmonary hypertension (IPH)-related angiogenesis defects in the developing lungs
  • importance of NUS1 and protein glycosylation during vascular development
  • NUS1 expression is associated with a poor prognosis of human hepatocellular carcinoma (HCC) patients
  • is a unique receptor that promotes accumulation of prenylated RAS at the plasma membrane and promotes EGF pathways
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • receptor for the N terminus of reticulon 4B/Nogo-B
  • Niemann-Pick type C2 protein (NPC2) is an NUS1-interacting protein
  • physically interacts with DHDDS to stabilize the dehydrodolichyl diphosphate synthase complex and potentiate its enzymatic activity
  • Nogo-B-interacting protein and a subunit required for cis-prenyltransferase (cisPTase) activity
  • promotes the membrane accumulation of RAS by directly binding prenylated RAS at the plasma membrane
  • is involved in oncogenic RAS signaling through directly binding to farnesylated RAS
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD55 , CDG1AA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer cells
    Susceptibility to Developmental and epileptic encephalopathy (DEE)
    Variant & Polymorphism other
  • NUS1 microdeletions are associated with DEE
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    targeting NUS1 in combination with chemotherapeutic drugs, such as 5-FU, could improve the efficacy of current anticancer treatments
    ANIMAL & CELL MODELS