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Aliases & Descriptions for UBQLN1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases DA41 1 , 2 , 3 , 5 DSK2 1 , 2 FLJ90054 2 OTTHUMP00000021544 2 OTTHUMP00000021545 2 PLIC-1 1 , 2 , 3 PLIC1 3 UBQN 2 XDRP1 1 , 2 hPLIC-1 3
Descriptions Protein linking IAP with cytoskeleton 1 3 ubiquilin 1 2
Search outside databases for aliases for UBQLN1 genePrevious GC identifers: GC09M077319 GC09M078129 GC09M079829 GC09M081731 GC09M081732 GC09M083504
Summaries for UBQLN1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for UBQLN1 : This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similaritywith related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-likedomain and a C-terminal ubiquitin-associated domain. They physically associate with bothproteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitinationmachinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also beenshown to modulate accumulation of presenilin proteins, and it is found in lesions associated withAlzheimer's and Parkinson's disease. Two transcript variants encoding different isoformshave 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 (Bysimilarity). Promotes the accumulation of uncleaved PSEN1 and PSEN2 by stimulating theirbiosynthesis. Has no effect on PSEN1 and PSEN2 degradation
Gene Wiki entry for UBQLN1
Genomic Location for UBQLN1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the UBQLN1 gene 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) GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure
GeneLoc location for GC09M085464:
(about GC identifiers )
Start:
85,464,699 bp from pter
End:
85,512,773 bp from pter
Size:
48,075 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000009.10 NT_023935.17 Proteins for UBQLN1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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 (Bysimilarity). Binds UBE3A, BTRC, P4HB, FRAP1, PSEN1 and PSEN2. Interacts with the proteasome 19Ssubunit
Subcellular location : Cytoplasm. Nucleus
PDB structure from and Proteopedia : 2JY5 (3D)
 2JY6 (3D)
 
Secondary accessions : Q8IXS9 Q8N2Q3 Q9H0T8 Q9H3R4 Q9HAZ5Alternative splicing : 2 isoforms : Q9UMX0-1 Q9UMX0-2
Post-translational modifications:
Phosphorylated1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_038466.2 NP_444295.1 ENSEMBL proteins: ENSP00000365576 ENSP00000257468 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: UBQLN1 5 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for UBQLN1: Assays for UBQLN1:
Protein
Domains/ Families for UBQLN1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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 domainSimilarity : Contains 1 UBA domainSimilarity : Contains 1 ubiquitin-like domain
Gene Function for UBQLN1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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RNAi Products ,
Clones , and
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_013438 Applied Biosystems Silencer ® siRNAs for UBQLN1 Sigma-Aldrich siRNA and siRNA Panels for UBQLN1 Sigma-Aldrich shRNA Panels and shRNA for UBQLN1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_013438                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_013438                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_013438  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_013438 UniProtKB/Swiss-Prot: UBQL1_HUMAN, Q9UMX0 Function : Links CD47 to the cytoskeleton. Promotes the surface expression of GABA-A receptors (Bysimilarity). Promotes the accumulation of uncleaved PSEN1 and PSEN2 by stimulating theirbiosynthesis. Has no effect on PSEN1 and PSEN2 degradation
1 Gene Ontology (GO) molecular function term (links to tree view) :
About this table
Pathways & Interactions for UBQLN1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for UBQLN1 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for UBQLN1 5/40 Interacting proteins for UBQLN1 (ENSP00000365576 3 Q9UMX0 2 ) via UniProtKB, MINT, and/or STRING (see all 40
)About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006464 protein modification process
IEA --
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Drugs & Compounds for UBQLN1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
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Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Transcripts for UBQLN1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_013438 Sigma-Aldrich siRNA and siRNA Panels for UBQLN1 Sigma-Aldrich shRNA Panels and shRNA for UBQLN1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_013438 NM_053067
REFSEQ mRNAs for UBQLN1 gene (2 alternative transcripts): NM_013438.4 NM_053067.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_013438 NM_053067
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_013438                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_013438                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_013438  
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
):AV725590 AA749374 BF590799 AI738847 BE219910 AI989901 CD106908 BG387774 AW474532 AI701397 BG528770 BE672920 AW572006 AI738564 N90838 AI568787 NM_013438 Z17365 BQ008742 CA432340 CD679359 AI796994 AI658751 AA021505
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 : ENST00000376395
ENST00000257468
Expression for UBQLN1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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UBQLN1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for UBQLN1 1 / 2 / 3
9 probe-sets matching UBQLN1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TGTCTTTGCTSOURCE GeneReport for Unigene cluster: Hs.9589 UniProtKB/Swiss-Prot: UBQL1_HUMAN, Q9UMX0 Tissue specificity : Ubiquitous. Highly expressed throughout the brain; detected in neurons and inneuropathological lesions, such as neurofibrillary tangles and Lewy bodies. Highly expressed inheart, placenta, pancreas, lung, liver, skeletal muscle and kidney
Orthologs for UBQLN1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for UBQLN1 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for UBQLN1 ENSEMBL Gene Tree for UBQLN1 Paralogs for UBQLN1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for UBQLN1 gene UBQLN3 2 UBQLN2 2 UBQLN4 2 UBQLNL 2
SNPs/Variants for UBQLN1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for UBQLN1 (up to first 250kb)
Disorders & Mutations for UBQLN1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 605046 2 Novoseek disease relationships for UBQLN1 gene
About this table Genetic Association Database: UBQLN1 Human Genome Epidemiology Navigator: UBQLN1 (9 documents)
Medical News for UBQLN1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for UBQLN1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/57 PubMed articles for UBQLN1 gene (see all 57
): 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, 4 Hanaoka E....Sakiyama S. (2000) Genetic association of ubiquilin with Alzheimer's disease and related quantitative measures. (PubMed id 16302009) 1, 3, 6 Kamboh M.I....DeKosky S.T. (2006) Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease. (PubMed id 16278862) 1, 3, 6 Smemo S....Goate A. (2006) The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years. (PubMed id 16214290) 1, 3, 6 Brouwers N....Dermaut B. (2006) The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome. (PubMed id 10983987) 1, 3, 4 Kleijnen M.F.... Howley P.M. (2000) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Role of ubiquilin associated with protein-disulfide isomerase in the endoplasmic reticulum in stress-induced apoptotic cell death. (PubMed id 12095988) 3, 4 Ko H.S.... Nomura Y. (2002) Characterization of ubiquilin 1, an mTOR-interacting protein. (PubMed id 11853878) 3, 4 Wu S.... Avruch J. (2002) Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166) 3, 4 Wiemann S.... Poustka A. (2001)
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Genome Databases showing UBQLN1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing UBQLN1
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Specialized Databases showing UBQLN1 (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
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-- Services for UBQLN1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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