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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UBQLN1 Gene

protein-coding   GIFtS: 62
GCID: GC09M086274

Ubiquilin 1

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ubiquilin 11 2     DSK22
DA412 3 5     UBQN2
Protein Linking IAP With Cytoskeleton 12 3     XDRP12
PLIC-12 3     ubiquilin-12
hPLIC-12 3     PLIC13

External Ids:    HGNC: 125081   Entrez Gene: 299792   Ensembl: ENSG000001350187   OMIM: 6050465   UniProtKB: Q9UMX03   

Export aliases for UBQLN1 gene to outside databases

Previous GC identifers: GC09M077319 GC09M078129 GC09M079829 GC09M081731 GC09M081732 GC09M083504 GC09M085464 GC09M056100


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for UBQLN1 Gene:
This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related
products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal
ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are
thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein
degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found
in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for UBQLN1 Gene: 
UBQLN1 (ubiquilin 1) is a protein-coding gene. Diseases associated with UBQLN1 include brown-vialetto-van laere syndrome, and parkinson's disease. GO annotations related to this gene include protein binding and kinase binding. An important paralog of this gene is UBQLN3.

UniProtKB/Swiss-Prot: UBQL1_HUMAN, Q9UMX0
Function: Links CD47 to the cytoskeleton. Promotes the surface expression of GABA-A receptors (By similarity).
Promotes the accumulation of uncleaved PSEN1 and PSEN2 by stimulating their biosynthesis. Has no effect on PSEN1
and PSEN2 degradation

Gene Wiki entry for UBQLN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBQLN1 gene promoter:
         RORalpha1   AhR   Pax-3   Pbx1a   FOXD3   Chx10   CUTL1   Nkx2-5   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBQLN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UBQLN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBQLN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22|9q21.2-q21.3   Ensembl cytogenetic band:  9q21.32   HGNC cytogenetic band: 9q22

UBQLN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBQLN1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M086274:  view genomic region     (about GC identifiers)

Start:
86,274,878 bp from pter      End:
86,323,168 bp from pter
Size:
48,291 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UBQL1_HUMAN, Q9UMX0 (See protein sequence)
Recommended Name: Ubiquilin-1  
Size: 589 amino acids; 62519 Da
Subunit: Binds CD47, NBL1, GABRA1, GABRA2, GABRA3, GABRA6, GABRB1, GABRB2 and GABRB3 (By similarity). Binds UBE3A,
BTRC, P4HB, MTOR, PSEN1 and PSEN2. Interacts with the proteasome 19S subunit
Subcellular location: Cytoplasm. Nucleus
3 PDB 3D structures from and Proteopedia for UBQLN1:
2JY5 (3D)        2JY6 (3D)        2KLC (3D)    
Secondary accessions: Q5T6J5 Q5T6J9 Q8IXS9 Q8N2Q3 Q9H0T8 Q9H3R4 Q9HAZ5
Alternative splicing: 2 isoforms:  Q9UMX0-1   Q9UMX0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UBQLN1: NX_Q9UMX0

Explore proteomics data for UBQLN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UMX0

  • UBQLN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UBQLN1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_038466.2  NP_444295.1  

    ENSEMBL proteins: 
     ENSP00000365576   ENSP00000257468   ENSP00000436912   ENSP00000434194  

    Human Recombinant Protein Products for UBQLN1: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UBQLN1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex IEA--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IMP12634373
    GO:0005783endoplasmic reticulum IDA12095988
    GO:0043234protein complex IDA--

    UBQLN1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    UBQLN: Ubiquilin family

    5/8 InterPro protein domains (see all 8):
     IPR006636 STI1_HS-bd
     IPR000449 UBA/transl_elong_EF1B_N
     IPR015940 UBA/transl_elong_EF1B_N_euk
     IPR015496 Ubiquilin
     IPR000626 Ubiquitin

    Graphical View of Domain Structure for InterPro Entry Q9UMX0

    ProtoNet protein and cluster: Q9UMX0

    2 Blocks protein domains:
    IPB000449 Ubiquitin-associated domain
    IPB000626 Ubiquitin domain


    UniProtKB/Swiss-Prot: UBQL1_HUMAN, Q9UMX0
    Domain: Binds PSEN1 and PSEN2 via its UBA domain
    Similarity: Contains 1 UBA domain
    Similarity: Contains 1 ubiquitin-like domain


    UBQLN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBQL1_HUMAN, Q9UMX0
    Function: Links CD47 to the cytoskeleton. Promotes the surface expression of GABA-A receptors (By similarity).
    Promotes the accumulation of uncleaved PSEN1 and PSEN2 by stimulating their biosynthesis. Has no effect on PSEN1
    and PSEN2 degradation

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684damaged DNA binding ----
    GO:0005488binding ----
    GO:0005515protein binding IPI11076969
    GO:0019900kinase binding IPI11853878
         
    UBQLN1 for ontologies           About GeneDecksing


    Animal Models:
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate UBQLN1 (see all 17):
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    SwitchGear 3'UTR luciferase reporter plasmidUBQLN1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UBQLN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    2CXCR4-mediated signaling events
    CXCR4-mediated signaling events

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UBQLN1
        CXCR4-mediated signaling events


    1         Kegg Pathway  (Kegg details for UBQLN1):
        Protein processing in endoplasmic reticulum


    UBQLN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBQLN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/120 Interacting proteins for UBQLN1 (Q9UMX02, 3 ENSP000003655764) via UniProtKB, MINT, STRING, and/or I2D (see all 120)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMD4P550362, 3, ENSP000003578794MINT-7307732 MINT-7307918 MINT-7307827 MINT-7307801 MINT-7307892 MINT-4300148 I2D: score=5 STRING: ENSP00000357879
    ADRM1Q161862, 3, ENSP000002530034MINT-7308816 MINT-7308237 MINT-7308834 I2D: score=3 STRING: ENSP00000253003
    PSEN1P497682, 3, ENSP000003263664MINT-16889 MINT-16890 MINT-16888 I2D: score=3 STRING: ENSP00000326366
    ATXN3P542522, 3, ENSP000003523244MINT-4300171 MINT-4300075 I2D: score=3 STRING: ENSP00000352324
    RIC8AQ9NPQ82, 3, ENSP000003259414MINT-67642 I2D: score=6 STRING: ENSP00000325941
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006289nucleotide-excision repair ----
    GO:0031396regulation of protein ubiquitination IDA12634373
    GO:0034976response to endoplasmic reticulum stress IMP12095988
    GO:0043161proteasomal ubiquitin-dependent protein catabolic process ----
    GO:0071456cellular response to hypoxia IMP12095988

    UBQLN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UBQLN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UBQLN1 (UBQL1)

    1 Novoseek inferred chemical compound relationship for UBQLN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 14.1 1 17082820 (1)

    Search CenterWatch for drugs/clinical trials and news about UBQLN1 / UBQL1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UBQLN1 gene (2 alternative transcripts): 
    NM_013438.4  NM_053067.2  

    Unigene Cluster for UBQLN1:

    Ubiquilin 1
    Hs.9589  [show with all ESTs]
    Unigene Representative Sequence: AB209468
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376395(uc004amv.3 uc004amw.3) ENST00000533705 ENST00000257468
    ENST00000526134 ENST00000527373 ENST00000529923

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate UBQLN1 (see all 17):
    hsa-miR-623 hsa-miR-429 hsa-miR-1257 hsa-miR-298 hsa-miR-3613-3p hsa-miR-3143 hsa-miR-1208 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidUBQLN1 3' UTR sequence
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    Additional mRNA sequence: 

    AB035275.1 AB209468.1 AF176069.3 AF293384.1 AK027556.1 AK027576.1 AK074535.1 AK125815.1 
    AL136643.1 BC010066.2 BC039294.1 

    14 DOTS entries:

    DT.100036812  DT.443588  DT.100036814  DT.100825284  DT.40118719  DT.40241331  DT.121201647  DT.92448341 
    DT.95173203  DT.100825281  DT.121201600  DT.121201624  DT.92448346  DT.95173192 

    24/426 AceView cDNA sequences (see all 426):

    Z17365 AW772300 AA595478 CD674928 AI568787 AA488984 AW572006 CB992793 
    BX956459 CB155683 AA025188 BQ220631 BE466769 AA992386 AW235045 BE327334 
    AA287729 AA749374 N64511 AI479171 AL538459 BE501933 AW007880 CD106908 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for UBQLN1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b
    SP1:                                                              -           -                     
    SP2:                                                        -     -           -                     
    SP3:              -     -     -                                                                     
    SP4:                                                                          -                     
    SP5:                                                                                                


    ECgene alternative splicing isoforms for UBQLN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UBQLN1 expression in normal human tissues (normalized intensities)      UBQLN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCTTTGCT
    UBQLN1 Expression
    About this image


    UBQLN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See UBQLN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBQLN1

    SOURCE GeneReport for Unigene cluster: Hs.9589

    UniProtKB/Swiss-Prot: UBQL1_HUMAN, Q9UMX0
    Tissue specificity: Ubiquitous. Highly expressed throughout the brain; detected in neurons and in
    neuropathological lesions, such as neurofibrillary tangles and Lewy bodies. Highly expressed in heart, placenta,
    pancreas, lung, liver, skeletal muscle and kidney

        SABiosciences Expression via Pathway-Focused PCR Array including UBQLN1: 
              Alzheimer's Disease in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBQLN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UBQLN1 gene from 9/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubqln11 , 5 ubiquilin 11, 5 85.26(n)1
    90.5(a)1
      13 (30.95 cM)5
    560851  NM_026842.41  NP_081118.41 
     581761565 
    chicken
    (Gallus gallus)
    Aves UBQLN11 ubiquilin 1 78.11(n)
    83.19(a)
      427454  XM_425028.2  XP_425028.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    82(a)
    1 → many
    2(42676593-42701741)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC755762 hypothetical protein MGC75576 80.14(n)    BC063190.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG142243
    Ubqn1
    Ubiquilin1 46(a)3
    53.84(n)1
    55.71(a)1
      18E13
    329771  NM_134500.31  NP_608344.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ubql-11 Protein UBQL-1 51.18(n)
    43.61(a)
      172434  NM_170894.2  NP_740883.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DSK21 Dsk2p 43.95(n)
    33.12(a)
      855319   NP_014003.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G171901 ubiquilin 46.99(n)
    42(a)
      816224  NM_127273.3  NP_565407.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g05422001 hypothetical protein 48.61(n)
    42.91(a)
      4349264  NM_001071728.1  NP_001065193.1 


    ENSEMBL Gene Tree for UBQLN1 (if available)
    TreeFam Gene Tree for UBQLN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UBQLN1 gene
    UBQLN32  UBQLN22  UBQLN42  UBQLNL2  
    3 SIMAP similar genes for UBQLN1 using alignment to 3 protein entries:     UBQL1_HUMAN (see all proteins):
    UBQLN2    UBQLN4    UBQLN3

    UBQLN1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for UBQLN1
    PGOHUM00000243136


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1154 SNPs in UBQLN1 are shown (see all 1154)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs111402071,2
    C,H--56113810(+) AAAAAA/CAAAAA 2 -- int11Minor allele frequency- C:0.00NA 2
    rs1909438751,2
    --56122532(+) ATATAC/TATATA 2 -- int10--------
    rs360966141,2
    C--56134612(+) AAAAG-/TTCCAT 2 -- int10--------
    rs1831245831,2
    --86154284(+) ATTTTG/TAACCC 2 -- ds50010--------
    rs1876607651,2
    --86154340(+) TATTAA/GAAACA 2 -- ds50010--------
    rs1468661281,2
    --86154517(+) CCCAGG/TGTGCT 2 -- ds50010--------
    rs28119281,2
    C,F,A,H--86154657(+) TTAAAT/GACTTT 2 -- ds500125Minor allele frequency- G:0.22NS EA NA WA CSA 2355
    rs1408023951,2
    --86154793(+) GTACAA/GAAGTT 2 -- ut310--------
    rs1446290141,2
    --86154796(+) CAGAAG/TTTTTT 2 -- ut310--------
    rs1482453851,2
    C--86154845(+) ATGAA-/TTACCC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for UBQLN1 (86274878 - 86323168 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UBQLN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv893513CNV Gain21882294
    nsv893512CNV Gain21882294


    Human Gene Mutation Database (HGMD): UBQLN1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UBQLN1
    DNA2.0 Custom Variant and Variant Library Synthesis for UBQLN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605046    OMIM disorders: --

    15 diseases for UBQLN1:    About MalaCards
    brown-vialetto-van laere syndrome    parkinson's disease    amyotrophic lateral sclerosis    lateral sclerosis
    alzheimer's disease    lung adenocarcinoma    huntington's disease    dementia
    hepatitis c    neuroblastoma    hypoxia    adenocarcinoma
    ovarian cancer    hepatitis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for UBQLN1:
    Alzheimer's disease     Brown-Vialetto-Van Laere syndrome

    UBQLN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for UBQLN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 68 19 15745979 (5), 16214290 (2), 17704509 (1), 18340109 (1) (see all 10)
    neurodegenerative diseases 43.4 1 19772837 (1)
    tumors 0 1 10807547 (1)

    Genetic Association Database (GAD): UBQLN1
    Human Genome Epidemiology (HuGE) Navigator: UBQLN1 (11 documents)

    Export disorders for UBQLN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UBQLN1 gene, integrated from 9 sources (see all 116):
    (articles sorted by number of sources associating them with UBQLN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression analysis of the human DA41 gene and its mapping to chromosome 9q21.2-q21.3. (PubMed id 10807547)1, 2, 3, 9 Hanaoka E.... Sakiyama S. (2000)
    2. Genetic association of ubiquilin with Alzheimer's disease and related quantitative measures. (PubMed id 16302009)1, 4, 9 Kamboh M.I....DeKosky S.T. (2006)
    3. Lack of association between UBQLN1 and Alzheimer disease. (PubMed id 16526030)1, 4, 9 Slifer M.A....Pericak-Vance M.A. (2006)
    4. Analysis of UBQLN1 variants in a Polish Alzheimer's disease patient: control series. (PubMed id 18340109)1, 4, 9 Golan M.P....Barcikowska M. (2008)
    5. Relationship of the Ubiquilin 1 gene with Alzheimer's and Parkinson's disease and cognitive function. (PubMed id 17709205)1, 4, 9 Arias-Vasquez A....van Duijn C. (2007)
    6. The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years. (PubMed id 16214290)1, 4, 9 Brouwers N....Dermaut B. (2006)
    7. Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease. (PubMed id 16278862)1, 4, 9 Smemo S....Goate A. (2006)
    8. Extremely rare incidence of the UBQLN1 polymorphism ( UBQ-8i) in Taiwan Chinese with Alzheimer's disease. (PubMed id 20350585)1, 4, 9 Chuo L.J....Kuo Y.M. (2010)
    9. Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer's disease. (PubMed id 16725228)1, 4, 9 Sundar P.D....Kamboh M.I. (2007)
    10. The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome. (PubMed id 10983987)1, 2, 9 Kleijnen M.F.... Howley P.M. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29979 HGNC: 12508 AceView: UBQLN1 Ensembl:ENSG00000135018 euGenes: HUgn29979
    ECgene: UBQLN1 Kegg: 29979 H-InvDB: UBQLN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UBQLN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UBQLN1 gene:
    Search GeneIP for patents involving UBQLN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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