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Symbol UBQLN1 contributors: mct - updated : 22-07-2012
HGNC name ubiquilin 1
HGNC id 12508
Location 9q21.32      Physical location : 86.274.878 - 86.323.168
Synonym name
  • ubiquilin-like 1
  • protein linking IAP with cytoskeleton 1
  • Synonym symbol(s) DSK2, DA41, PLIC1, XDRP1, PLIC-1, FLJ90054, UBQN
    TYPE functioning gene
    STRUCTURE 48.29 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    TLE1 19p13.3 transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) LOC392355 9 similar to ORF2 FLJ43950 9q21.33 FLJ43950 protein LOC389761 9 similar to RIKEN cDNA 1700013B16 LOC389762 9 hypothetical gene supported by AK126070 LOC389763 9 similar to RIKEN cDNA 1700013B16 LOC286228 9q21.33 similar to DEAD (Asp-Glu-Ala-Asp) box polypeptide 10; DEAD box-10 LOC392356 9 similar to 40S ribosomal protein S2 LOC392357 9 hypothetical gene supported by AK094743 FLJ31614 9q21.33 hypothetical protein FLJ31614 MGC20553 LOC169505 9q21.33 similar to RIKEN cDNA 5133401N09 UBQLN1 9q21.2-q21.3 ubiquilin 1 GKAP42 9q22.1 protein kinase anchoring protein GKAP42 KIF27 9q22.1 kinesin family member 27 C9orf64 9q22.1 chromosome 9 open reading frame 64 HNRPK 9q21.32-q22.33 heterogeneous nuclear ribonucleoprotein K C9orf76 9q22.1 chromosome 9 open reading frame 76 SLC28A3 9q22.2 solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 NTRK2 9q22.1 neurotrophic tyrosine kinase, receptor, type 2 AGTPBP1 9q21.33 ATP/GTP binding protein 1 LOC389764 9 similar to kinesin family member 27 LOC389765 9 similar to kinesin family member 27
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 4177 63 589 - 2002 11853878
    10 - 4093 59.1 561 - 2002 11853878
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Cardiovascularheart   highly
    Endocrineadrenal gland    
    Endocrineparathyroid   highly
    Lymphoid/Immunelymph node   highly
    Urinarykidney   highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
    physiological period pregnancy
    Text placenta
  • ubiquitin-like domain in the N terminal region(UBL),
  • C terminal ubiquitin-associated domain(UBA)
  • a central region with numerous NPX var phi motifs
  • central region contains two regions of similarity to the co-chaperone STIP1, domains mediating hydrophobic protein-protein interactions and that may possess intrinsic chaperone activity
    interspecies homolog to rattus Da41
    homolog to yeast S.cerevisiae Dsk2
  • ubiquitin family, UBL-UBA family of proteins
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
  • translocated from the cytoplasm to the nucleus upon co-expression with ASCL1
  • UBQLN1 and SPEM1 were colocalized to the manchette of elongating spermatids
  • can sequester APP in the Golgi apparatus and delay its access to the cell surface and subsequent proteolytic processing
  • basic FUNCTION
  • potentially binding the ubiquitination machinery to the proteasome
  • playing an active role in the precise regulation of ASCL1 and of other tissue-specific bHLH proteins
  • regulating nicotine-induced up-regulation of neuronal nicotinic acetylcholine receptors
  • may play a significant role in regulating the strength of synaptic inhibition by increasing the stability of GABA(A)Rs within the secretory pathway and thereby promoting their insertion into the neuronal plasma membrane
  • role for ubiquilin-1 in the regulation of APP trafficking and processing
  • involved in the regulation of cell survival during starvation
  • protects cells against starvation-induced cell death propagated by overexpression of mutant Alzheimer disease PS2N141I protein
  • having functions through binding and directing poly-ubiquitinated proteins to the proteasome for degradation, and interactions between UBQLN1 and SPEM1 suggest a role in the regulation of protein ubiquitination during spermiogenesis
  • a possible function of ubiquilin might be to bind and transport ubiquitinated proteins to autophagosomes
  • is a novel inhibitor of the TLR3-TICAM1 antiviral pathway by reducing the abundance of TICAM1
  • its chaperone activity is necessary to regulate the production of APP and diminished UBQLN1 levels may contribute to AD (Alzheimer disease) pathogenesis
  • functions potentially as a molecular chaperone to prevent the aggregation of APP in neuronal cells
  • critical quality-control molecule regulating APP biosynthesis, trafficking, and degradation
  • is a key regulator of APP biosynthesis, trafficking, and degradation
  • CELLULAR PROCESS cell life, cell death/apoptosis
    protein, ubiquitin dependent proteolysis
    a component
  • associating with both UBQLN2, proteasome and ubiquitin ligase to form a large complex
    small molecule
  • DAN
  • FRAP1 interactor
  • interacts not only with ASCL1, but also with other tissue-specific bHLH proteins, including HES1
  • interacts with unassembled CHRNA3 and CHRNA4 subunits when coexpressed in heterologous cells and interacts with endogenous nicotinic acetylcholine receptors in neurons
  • UBQLN1/NBL1 complex might play a crucial role in the regulation of the cell cycle progression
  • interacts with SPEM1 and participates in spermiogenesis
  • UBQLN1 specifically interacts with BCL2L10
  • inhibits the maturation of APP by sequestering it in the early secretory pathway, primarily within the Golgi apparatus
  • downregulates intracellular Ca(2+) mobilization and its downstream signaling by promoting the ubiquitination and lysosomal degradation of ORAI1
  • cell & other
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    protecting neuronal cells from cell death triggered by hypoxia
    constitutional     --over  
    leading to increased accumulation of full-length PSEN proteins
    constitutional     --low  
    significantly decreased in late onset AD patient brains, suggesting that diminished ubiquilin function may be a common denominator in AD progression
    Susceptibility to late onset Alzheimer disease (AD)
    Variant & Polymorphism SNP
  • four SNP within the ubiquilin-1 gene have been shown to be genetically associated with AD
  • Candidate gene
    Therapy target
    maintenance and restoration of adequate levels of ubiquilin-1 and other cellular quality control molecules as therapeutic targets to prevent APP-related cognitive decline in late onset AD