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UBQLN1 Gene

protein-coding   GIFtS: 63
GCID: GC09M086274

Ubiquilin 1

  See UBQLN1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for UBQLN1 gene to outside databases

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for UBQLN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Phosphorylated1
  • Ubiquitination2 at Lys45, Lys47, Lys62, Lys70, Lys83, Lys86
  • Modification sites at PhosphoSitePlus

  • See UBQLN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000365576   ENSP00000257468   ENSP00000436912   ENSP00000434194  

    UBQLN1 Human Recombinant Protein Products:

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    antibodies-online peptides for UBQLN1

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

    Selected InterPro protein domains (see all 7):
     IPR015496 Ubiquilin
     IPR000626 Ubiquitin_dom
     IPR009060 UBA-like
     IPR006636 STI1_HS-bd
     IPR000449 UBA/Ts_N

    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: The UBA domain mediates binding to PSEN1 and PSEN2. It also binds ubiquitin with micromolar affinity,
    independently of polyubiquitin linkage type
    Similarity: Contains 1 UBA domain
    Similarity: Contains 1 ubiquitin-like domain


    Find genes that share domains with UBQLN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684damaged DNA binding ----
    GO:0005488binding ----
    GO:0005515protein binding IPI11076969
    GO:0019900kinase binding IPI11853878
    GO:0019904protein domain specific binding IEA--
         
    Find genes that share ontologies with UBQLN1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for UBQLN1

    miRNA
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    miRTarBase miRNAs that target UBQLN1:
    hsa-mir-210-3p (MIRT003156), hsa-mir-155-5p (MIRT020996), hsa-mir-100-5p (MIRT048505), hsa-mir-484 (MIRT042191), hsa-mir-331-3p (MIRT043312)

    Block miRNA regulation of human, mouse, rat UBQLN1 using miScript Target Protectors
    Selected qRT-PCR 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
    Inhib. RNA
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    Addgene plasmids for UBQLN1 

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    eBioscience FlowRNA Probe Sets ( VA1-13892) for UBQLN1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UBQL1_HUMAN, Q9UMX0: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    endoplasmic reticulum4
    cytosol3
    vacuole2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IMP12634373
    GO:0005783endoplasmic reticulum IDA12095988

    Find genes that share ontologies with UBQLN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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


    Find genes that share SuperPaths with UBQLN1           About GenesLikeMe

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including UBQLN1: 
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UBQLN1

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

    Selected Interacting proteins for UBQLN1 (Q9UMX01, 2, 3 ENSP000003655764) via UniProtKB, MINT, STRING, and/or I2D (see all 204)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRM1Q161861, 2, 3, ENSP000002530034EBI-741480,EBI-954387 MINT-7308816 MINT-7308237 MINT-7308834 I2D: score=3 STRING: ENSP00000253003
    RIC8AQ9NPQ81, 2, 3, ENSP000003259414EBI-741480,EBI-717509 MINT-67642 I2D: score=6 STRING: ENSP00000325941
    ATXN3P542522, 3, ENSP000003523244MINT-4300171 MINT-4300075 I2D: score=3 STRING: ENSP00000352324
    CSTF2TQ9H0L42, 3, ENSP000003324444MINT-66975 I2D: score=5 STRING: ENSP00000332444
    GABRDO147642, 3, ENSP000003678484MINT-66488 I2D: score=5 STRING: ENSP00000367848
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    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:0043161proteasome-mediated ubiquitin-dependent protein catabolic process ----
    GO:0071456cellular response to hypoxia IMP12095988

    Find genes that share ontologies with UBQLN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with UBQLN1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    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 

    Selected AceView cDNA sequences (see all 426):

    AI796994 BE501933 BX106068 AW418815 AA934500 CD674928 N90838 BM766976 
    BM766444 CR596552 AW770944 BF590799 BQ220631 BM463321 BG105487 AI738847 
    CA305888 CD106908 NM_013438 BE466769 AA595478 BE219910 BM782274 CB164747 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UBQLN1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    UBQLN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBQLN1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including UBQLN1: 
              Alzheimer's Disease in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat UBQLN1
    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for UBQLN1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubqln11 , 5 ubiquilin 11, 5 84.8(n)1
    89.81(a)1
      13 (30.95 cM)5
    560851  NM_026842.41  NP_081118.41 
     581761565 
    chicken
    (Gallus gallus)
    Aves UBQLN11 ubiquilin 1 79.34(n)
    84.68(a)
      427454  XM_004949194.1  XP_004949251.1 
    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
    54.14(n)1
    55.19(a)1
      18E13
    329771  NM_134500.31  NP_608344.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ubql-16
    Protein UBQL-1, isoform a
    39(a)
    1 → many
    I(7021982-7029076) WBGene00008852
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DSK26
    Nuclear-enriched ubiquitin-like polyubiquitin-bind...
    29(a)
    1 → many
    XIII(818827-819948) YMR276W


    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)
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    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

    Find genes that share paralogs with UBQLN1           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for UBQLN1 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605046    OMIM disorders: --

    1 disease for UBQLN1:    
    About MalaCards
    brown-vialetto-van laere syndrome

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

    Find genes that share disorders with UBQLN1           About GenesLikeMe

    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)
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    PubMed articles for UBQLN1 gene, integrated from 10 sources (see all 119):
    (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. (J. Hum. Genet. 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. (Mol. Psychiatry 2006)
    3. Lack of association between UBQLN1 and Alzheimer disease. (PubMed id 16526030)1, 4, 9 Slifer M.A....Pericak-Vance M.A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 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. (Dement Geriatr Cogn Disord 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-VA!squez A....van Duijn C. (Neurosci. Lett. 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. (Neurosci. Lett. 2006)
    7. Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease. (PubMed id 16278862)1, 4, 9 Smemo S....Goate A. (Ann. Neurol. 2006)
    8. Affinity makes the difference: nonselective interaction of the UBA domain of Ubiquilin-1 with monomeric ubiquitin and polyubiquitin chains. (PubMed id 18241885)1, 2, 9 Zhang D....Fushman D. (J. Mol. Biol. 2008)
    9. 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. (Neurosci. Lett. 2010)
    10. 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. (Neurobiol. Aging 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 29979 HGNC: 12508 AceView: UBQLN1 Ensembl:ENSG00000135018 euGenes: HUgn29979
    ECgene: UBQLN1 Kegg: 29979 H-InvDB: UBQLN1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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