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UBQLN1 Gene

protein-coding   GIFtS: 58

GC09M056100
ubiquilin 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

Aliases &
Descriptions
for UBQLN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
ubiquilin 11 2     hPLIC-12 3
DA411 2 3 5     ubiquilin-12
PLIC-11 2 3     FLJ900542
DSK21 2     UBQN2
XDRP11 2     PLIC13
Protein linking IAP with cytoskeleton 12 3     

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

Export aliases for UBQLN1 gene to outside databases

Previous GC identifers: GC09M077319 GC09M078129 GC09M079829 GC09M081731 GC09M081732 GC09M083504 GC09M085464 GC09M086274


Summaries
for UBQLN1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for UBQLN1:
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)

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

Genomic Views
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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBQLN1 gene promoter:
         ER-alpha   ATF   c-Jun   ATF-2   CREB   deltaCREB   RORalpha2   ATF6   C/EBPalpha   FOXJ2 (long isoform)   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for UBQLN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M056100:  view genomic region     (about GC identifiers)

Start:
 56,100,224 bp from pter
End:
 56,148,493 bp from pter
Size:
 48,270 bases
Orientation:
 minus strand

1 alternative location:
Chr9- 86,274,878-86,323,118     
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  

Proteins
for UBQLN1 gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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, FRAP1, PSEN1 and PSEN2. Interacts with the proteasome 19S subunit
Subcellular location: Cytoplasm. Nucleus
PDB structures from and Proteopedia :
2JY5 (3D)    2JY6 (3D)    2KLC (3D)    
Secondary accessions: Q5T6J5 Q5T6J9 Q8IXS9 Q8N2Q3 Q9H0T8 Q9H3R4 Q9HAZ5
Alternative splicing: 2 isoforms:  Q9UMX0-1   Q9UMX0-2   

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

Post-translational modifications:

  • Phosphorylated1
  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000257468 ENSP00000365576 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: UBQLN1
    OriGene Protein Over-expression Lysate: UBQLN1
    GenScript Custom Purified and Recombinant Proteins Services for UBQLN1 
    Novus Biologicals Protein for UBQLN1
    Novus Biologicals Lysate for UBQLN1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502 proteasome complex IEA--
    GO:0005634 nucleus IEA--
    GO:0005737 cytoplasm IMP12634373
    GO:0005783 endoplasmic reticulum IDA12095988
    GO:0043234 protein complex IDA11256614
    About this table

    UBQLN1 for ontologies           About GeneDecksing



    Antibodies for UBQLN1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for UBQLN1
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 2): UBQLN1
    GenScript Custom Superior Antibodies Services for UBQLN1 
    Novus Biologicals Antibodies for UBQLN1
    Epitomics antibodies for UBQLN1

    Assays for UBQLN1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UBQLN1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for UBQLN1 

    Protein Domains/
    Families
    for UBQLN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    UBQLN1 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR015496 Ubiquilin
     IPR000626 Ubiquitin
     IPR019955 Ubiquitin_supergroup
     IPR009060 UBA-like
     IPR006636 STI1_HS-bd

    Graphical View of Domain Structure for InterPro Entry Q9UMX0

    ProtoNet protein and cluster: Q9UMX0

    2 Blocks protein families:
    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


    Gene Function
    for UBQLN1 gene

    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:            		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for UBQLN1
    Sigma-Aldrich shRNA Panels and shRNA for UBQLN1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): UBQLN1
    OriGene shRNA RFP (see all 2): UBQLN1
    OriGene basic RS shRNA (see all 2): UBQLN1
    OriGene siRNA (see all 2): UBQLN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of UBQLN1 
    miRNA:Sigma-Aldrich microRNA Mimics for UBQLN1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of UBQLN1 
    2 SABiosciences Assays for microRNAs that regulate UBQLN1:
    hsa-miR-600 hsa-miR-425

    Gene
    Editing:    		Sigma-Aldrich CompoZr Knockout ZFN for UBQLN1 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): UBQLN1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): UBQLN1
    OriGene untagged cDNA clones in CMV expression vector (see all 3): UBQLN1
    OriGene 3'-UTR clone (see all 2): UBQLN1 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for UBQLN1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for UBQLN1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684 damaged DNA binding ----
    GO:0005488 binding ----
    GO:0005515 protein binding IPI12095988
    GO:0019900 kinase binding IPI11853878
    About this table

    UBQLN1 for ontologies           About GeneDecksing


    Pathways & Interactions
    for UBQLN1 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    UBQLN1 for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  UBQLN1
        GABA Receptor Signaling

    1 Kegg Pathway  (Kegg details for UBQLN1):
        hsa04141 Protein processing in endoplasmic reticulum

        SABiosciences Pathway-Focused PCR Array including UBQLN1: PAHS-057A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for UBQLN1
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBQLN1

    5/37 Interacting proteins for UBQLN1 (ENSP000003655763 Q9UMX02) via UniProtKB, MINT, and/or STRING (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TFF1P041552STRING: ENSP00000291527 MINT-66399
    PSMD4P550362MINT-7307732 MINT-7307918 MINT-7307827 MINT-7307801 MINT-7307892 MINT-4300148
    EPS15P425662MINT-4300195 MINT-4300120 MINT-4302859 MINT-4302787 MINT-4302826
    ADRM1Q161862MINT-7308816 MINT-7308237 MINT-7308834
    PSEN1P497682MINT-16889 MINT-16890 MINT-16888
    About this table

    5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666 response to hypoxia IMP12095988
    GO:0006289 nucleotide-excision repair ----
    GO:0006915 apoptosis IMP12095988
    GO:0031396 regulation of protein ubiquitination IDA12634373
    GO:0043161 proteasomal ubiquitin-dependent protein catabolic process ----
    About this table

    UBQLN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for UBQLN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    UBQLN1 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

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



    Transcripts
    for UBQLN1 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section
    Inhib.
    RNA:             		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for UBQLN1
    Sigma-Aldrich shRNA Panels and shRNA for UBQLN1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): UBQLN1
    OriGene shRNA RFP (see all 2): UBQLN1
    OriGene basic RS shRNA (see all 2): UBQLN1
    OriGene siRNA (see all 2): UBQLN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of UBQLN1 
    miRNA: Sigma-Aldrich microRNA Mimics for UBQLN1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of UBQLN1 
    2 SABiosciences Assays for microRNAs that regulate UBQLN1:
    hsa-miR-600 hsa-miR-425
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): UBQLN1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): UBQLN1
    OriGene untagged cDNA clones in CMV expression vector (see all 3): UBQLN1
    OriGene 3'-UTR Clone (see all 2): UBQLN1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for UBQLN1 
    Primers: OriGene genome-wide validated SYBR primer pairs: UBQLN1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for UBQLN1: PPH07696A

    REFSEQ mRNAs for UBQLN1 gene (2 alternative transcripts): 

    NM_013438.4  NM_053067.2  

    Additional cDNA sequence: 

    AB035275.1 AB209468.1 AF176069.3 AF293384.1 AK027556.1 AK027576.1 AK074535.1 AK125815.1 
    AL136643.1 BC010066.2 BC039294.1 CR596552.1 CR612259.1 

    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):

    AI738564 AI738847 AW015486 CA441125 AI568787 AA934500 BF590799 AI265808 
    AA488984 T53178 N64501 AA946685 CB164747 AA749374 AI263084 AW611812 
    BQ008742 BF594420 AI640450 CD106908 AI371437 BE219615 N90838 AL520071 

    highest scoring ESTs for UBQLN1:

    AI244901 AA016215 AA021506 AA037649 AA160015 AA313336 AA452806 AA576689 AA749374 AA758246 

    Unigene Cluster for UBQLN1:

    Ubiquilin 1
    Hs.9589  [show with all ESTs]
    Unigene Representative Sequence: AB209468


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for UBQLN1
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257468 ENST00000376395(uc004amv.2 uc004amw.2)

    Expression
    for UBQLN1 gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    UBQLN1 expression in normal and diseased human tissues

    1  / 2  / 3

    9 probe-sets matching UBQLN1 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    82573_at2, 3 U95-E 1 1.00 1.00 0.87 1.08 AI244901 1.00 1.00 1.00 1
    46707_at2, 3 U95-B 1 0.88 1.00 0.32 1.12 N90555 0.80 1.00 0.91 1
    57914_at2, 3 U95-B 1 0.75 1.00 0.93 0.79 W52859 0.80 1.00 0.91 1
    222991_s_at2, 3 U133-B 1 1.00 1.00 -- -- AL136643 0.80 0.88 0.84 1
    222989_s_at2, 3 U133-B 1 1.00 1.00 -- -- NM_013438 0.60 1.00 0.82 1
    222990_at2, 3 U133-B 1 0.82 1.00 -- -- AW204104 0.60 1.00 0.82 1
    222991_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    222989_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    222990_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    About this table

    UBQLN1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    UBQLN1 gene expression
    UBQLN1 gene electronic northern expression
    UBQLN1 gene sage expression
    About these images

    CGAP SAGE TAG: TGTCTTTGCT

    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

    Primers: OriGene genome-wide validated SYBR primer pairs: UBQLN1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for UBQLN1: PPH07696A
        SABiosciences Expression via Pathway-Focused PCR Array including UBQLN1: PAHS-057A 


    Orthologs
    for UBQLN1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for UBQLN1 gene from 5/11 species (see all 11)
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 UBQLN11   -- ubiquilin 1 93.6(n)
    95.76(a)    		 476312  XM_853208.1  XP_858301.1 
    cow
    (Bos taurus)    		 UBQLN11   -- ubiquilin 1 92.28(n)
    94.72(a)    		 282392  NM_174628.1  NP_777053.1 
    rat
    (Rattus norvegicus)    		 Ubqln11   -- ubiquilin 1 84.28(n)
    88.95(a)    		 114590  NM_053747.2  NP_446199.2 
    mouse
    (Mus musculus)    		 Ubqln11 , 5 13 (30.95 cM)5
    		 ubiquilin 11, 5 84.45(n)1
    90.02(a)1    		 560851  NM_152234.11  NP_689420.11 
     AF1773455  AI4259825  (see all 35)
    chicken
    (Gallus gallus)    		 UBQLN11   -- ubiquilin 1 78.11(n)
    83.19(a)    		 427454  XM_425028.2  XP_425028.2 
    About this table        Species with no ortholog for UBQLN1

    ENSEMBL Gene Tree for UBQLN1 (if available)

    Paralogs
    for UBQLN1 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for UBQLN1 gene
    UBQLN32  UBQLN22  UBQLN42  UBQLNL2  

    UBQLN1 for paralogs           About GeneDecksing



    Genomic Variants
    for UBQLN1 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/551 NCBI SNPs in UBQLN1 are shown (see all 551)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ----------
    rs116591,2
    		C,F,86276576(+) AAATGC/TATCAT 2 -- ut31 ese35Minor allele frequency- T:0.01MN NS EA 604
    rs124041,2
    		86276409(-) GTCCAG/CTTTAT 2 -- ut311Minor allele frequency- C:0.00MN 184
    rs8689171,2
    		C,F,A,86316398(+) GGGTAT/CGGGGA 2 -- int14Minor allele frequency- C:0.43NS NA EA WA 282
    rs9449461,2
    		C,F,H,86300269(-) catacA/GaagAC 2 -- int112Minor allele frequency- G:0.22NA EA WA 364
    rs9449471,2
    		C,F,A,86300064(-) CTTCTA/GTTTTG 2 -- int120Minor allele frequency- G:0.19NA EA MN NS WA 1350
    rs9618071,2
    		C,F,O,A,H,86325050(-) CATTCG/AGAAGA 2 -- ng5115Minor allele frequency- A:0.20NA EA MN NS WA 818
    rs10441751,2
    		C,F,O,A,86284178(-) CAACTG/TATGCA 4 L ref1 syn116Minor allele frequency- T:0.48NA NS EA WA 828
    rs10442141,2
    		C,F,A,H,86275559(-) GTCCTG/TGATGG 2 -- ut3111Minor allele frequency- T:0.24MN NS EA NA WA 620
    rs10442561,2
    		--86275109(-) CTGTTC/TTGACA 2 -- ut310--------
    rs10560731,2
    		C,F,A,86322740(-) GCTACG/CGTGGC 2 -- ut515Minor allele frequency- C:0.36MN NA WA 328
    About this table

    HapMap Linkage Disequilibrium images for UBQLN1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for UBQLN1: --

    QIAGEN SeqTarget long-range PCR primers for resequencing UBQLN1 

    Disorders & Mutations
    for UBQLN1 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    UBQLN1 for disorders           About GeneDecksing

    OMIM: 605046

    3 Novoseek disease relationships for UBQLN1 gene

    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)
    About this table

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

    Export disorders and mutations for UBQLN1 gene to outside databases

    Medical News
    for UBQLN1 gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section
    		   --

    Publications
    for UBQLN1 gene

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

    10/71 PubMed articles for UBQLN1 gene, integrated from 7 sources (see all 71):
    (articles sorted by number of sources associating them with UBQLN1)
    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, 7 Hanaoka E.... Sakiyama S. (2000)
    2. Genetic association of ubiquilin with Alzheimer's disease and related quantitative measures. (PubMed id 16302009)1, 4, 7 Kamboh M.I....DeKosky S.T. (2006)
    3. The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years. (PubMed id 16214290)1, 4, 7 Brouwers N....Dermaut B. (2006)
    4. Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease. (PubMed id 16278862)1, 4, 7 Smemo S....Goate A. (2006)
    5. The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome. (PubMed id 10983987)1, 2, 7 Kleijnen M.F.... Howley P.M. (2000)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Role of ubiquilin associated with protein-disulfide isomerase in the endoplasmic reticulum in stress-induced apoptotic cell death. (PubMed id 12095988)1, 2 Ko H.S.... Nomura Y. (2002)
    9. Characterization of ubiquilin 1, an mTOR-interacting protein. (PubMed id 11853878)1, 2 Wu S.... Avruch J. (2002)
    10. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)

    External Searches for UBQLN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
    NCBI Bookshelf
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    Genome Databases showing UBQLN1 gene

    (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

    Other Databases showing UBQLN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing UBQLN1 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    		   --

    Intellectual Property
    for UBQLN1 gene

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

    GeneCards and IP:
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    Products
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