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UBQLN1 (ubiquilin 1)

Identity

Alias_symbol (synonym)DSK2
PLIC-1
XDRP1
DA41
Other aliasUBQN
HGNC (Hugo) UBQLN1
LocusID (NCBI) 29979
Atlas_Id 52768
Location 9q21.32  [Link to chromosome band 9q21]
Location_base_pair Starts at 83659963 and ends at 83708253 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CSMD1 (8p23.2) / UBQLN1 (9q21.32)PDLIM5 (4q22.3) / UBQLN1 (9q21.32)UBQLN1 (9q21.32) / DGKH (13q14.11)
UBQLN1 (9q21.32) / GKAP1 (9q21.32)UBQLN1 (9q21.32) / IGFBP4 (17q21.2)UBQLN1 (9q21.32) / SHC3 (9q22.1)
UBQLN1 (9q21.32) / UBQLN1 (9q21.32)UBQLN1 9q21.32 / GKAP1 9q21.32

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)UBQLN1   12508
Cards
Entrez_Gene (NCBI)UBQLN1  29979  ubiquilin 1
AliasesDA41; DSK2; PLIC-1; UBQN; 
XDRP1
GeneCards (Weizmann)UBQLN1
Ensembl hg19 (Hinxton)ENSG00000135018 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135018 [Gene_View]  chr9:83659963-83708253 [Contig_View]  UBQLN1 [Vega]
ICGC DataPortalENSG00000135018
TCGA cBioPortalUBQLN1
AceView (NCBI)UBQLN1
Genatlas (Paris)UBQLN1
WikiGenes29979
SOURCE (Princeton)UBQLN1
Genetics Home Reference (NIH)UBQLN1
Genomic and cartography
GoldenPath hg38 (UCSC)UBQLN1  -     chr9:83659963-83708253 -  9q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBQLN1  -     9q21.32   [Description]    (hg19-Feb_2009)
EnsemblUBQLN1 - 9q21.32 [CytoView hg19]  UBQLN1 - 9q21.32 [CytoView hg38]
Mapping of homologs : NCBIUBQLN1 [Mapview hg19]  UBQLN1 [Mapview hg38]
OMIM605046   
Gene and transcription
Genbank (Entrez)AB035275 AB209468 AF176069 AF293384 AK027556
RefSeq transcript (Entrez)NM_013438 NM_053067
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBQLN1
Cluster EST : UnigeneHs.9589 [ NCBI ]
CGAP (NCI)Hs.9589
Alternative Splicing GalleryENSG00000135018
Gene ExpressionUBQLN1 [ NCBI-GEO ]   UBQLN1 [ EBI - ARRAY_EXPRESS ]   UBQLN1 [ SEEK ]   UBQLN1 [ MEM ]
Gene Expression Viewer (FireBrowse)UBQLN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29979
GTEX Portal (Tissue expression)UBQLN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UMX0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UMX0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UMX0
Splice isoforms : SwissVarQ9UMX0
PhosPhoSitePlusQ9UMX0
Domaine pattern : Prosite (Expaxy)UBA (PS50030)    UBIQUITIN_2 (PS50053)   
Domains : Interpro (EBI)STI1_HS-bd    UBA    UBA-like    Ubiquilin    Ubiquitin-rel_dom    Ubiquitin_dom   
Domain families : Pfam (Sanger)UBA (PF00627)    ubiquitin (PF00240)   
Domain families : Pfam (NCBI)pfam00627    pfam00240   
Domain families : Smart (EMBL)STI1 (SM00727)  UBA (SM00165)  UBQ (SM00213)  
Conserved Domain (NCBI)UBQLN1
DMDM Disease mutations29979
Blocks (Seattle)UBQLN1
PDB (SRS)2JY5    2JY6    2KLC   
PDB (PDBSum)2JY5    2JY6    2KLC   
PDB (IMB)2JY5    2JY6    2KLC   
PDB (RSDB)2JY5    2JY6    2KLC   
Structural Biology KnowledgeBase2JY5    2JY6    2KLC   
SCOP (Structural Classification of Proteins)2JY5    2JY6    2KLC   
CATH (Classification of proteins structures)2JY5    2JY6    2KLC   
SuperfamilyQ9UMX0
Human Protein AtlasENSG00000135018
Peptide AtlasQ9UMX0
HPRD05440
IPIIPI00099550   IPI00071180   IPI00982848   IPI00984835   
Protein Interaction databases
DIP (DOE-UCLA)Q9UMX0
IntAct (EBI)Q9UMX0
FunCoupENSG00000135018
BioGRIDUBQLN1
STRING (EMBL)UBQLN1
ZODIACUBQLN1
Ontologies - Pathways
QuickGOQ9UMX0
Ontology : AmiGOautophagosome assembly  proteasome complex  protein binding  nucleoplasm  cytoplasm  cytoplasm  autophagosome  endoplasmic reticulum  cytosol  plasma membrane  aggresome  macroautophagy  kinase binding  ubiquitin-dependent ERAD pathway  regulation of protein ubiquitination  positive regulation of protein ubiquitination  cytoplasmic vesicle  polyubiquitin binding  negative regulation of toll-like receptor 3 signaling pathway  response to endoplasmic reticulum stress  aggrephagy  identical protein binding  protein complex  perinuclear region of cytoplasm  perinuclear region of cytoplasm  cellular response to hypoxia  autophagosome maturation  negative regulation of store-operated calcium channel activity  regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  positive regulation of ER-associated ubiquitin-dependent protein catabolic process  
Ontology : EGO-EBIautophagosome assembly  proteasome complex  protein binding  nucleoplasm  cytoplasm  cytoplasm  autophagosome  endoplasmic reticulum  cytosol  plasma membrane  aggresome  macroautophagy  kinase binding  ubiquitin-dependent ERAD pathway  regulation of protein ubiquitination  positive regulation of protein ubiquitination  cytoplasmic vesicle  polyubiquitin binding  negative regulation of toll-like receptor 3 signaling pathway  response to endoplasmic reticulum stress  aggrephagy  identical protein binding  protein complex  perinuclear region of cytoplasm  perinuclear region of cytoplasm  cellular response to hypoxia  autophagosome maturation  negative regulation of store-operated calcium channel activity  regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  positive regulation of ER-associated ubiquitin-dependent protein catabolic process  
Pathways : BIOCARTAGamma-aminobutyric Acid Receptor Life Cycle [Genes]   
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkUBQLN1
Atlas of Cancer Signalling NetworkUBQLN1
Wikipedia pathwaysUBQLN1
Orthology - Evolution
OrthoDB29979
GeneTree (enSembl)ENSG00000135018
Phylogenetic Trees/Animal Genes : TreeFamUBQLN1
HOVERGENQ9UMX0
HOGENOMQ9UMX0
Homologs : HomoloGeneUBQLN1
Homology/Alignments : Family Browser (UCSC)UBQLN1
Gene fusions - Rearrangements
Fusion : MitelmanUBQLN1/GKAP1 [9q21.32/9q21.32]  
Fusion: TCGAUBQLN1 9q21.32 GKAP1 9q21.32 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBQLN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBQLN1
dbVarUBQLN1
ClinVarUBQLN1
1000_GenomesUBQLN1 
Exome Variant ServerUBQLN1
ExAC (Exome Aggregation Consortium)UBQLN1 (select the gene name)
Genetic variants : HAPMAP29979
Genomic Variants (DGV)UBQLN1 [DGVbeta]
DECIPHERUBQLN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBQLN1 
Mutations
ICGC Data PortalUBQLN1 
TCGA Data PortalUBQLN1 
Broad Tumor PortalUBQLN1
OASIS PortalUBQLN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBQLN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUBQLN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch UBQLN1
DgiDB (Drug Gene Interaction Database)UBQLN1
DoCM (Curated mutations)UBQLN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBQLN1 (select a term)
intoGenUBQLN1
Cancer3DUBQLN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605046   
Orphanet
MedgenUBQLN1
Genetic Testing Registry UBQLN1
NextProtQ9UMX0 [Medical]
TSGene29979
GENETestsUBQLN1
Huge Navigator UBQLN1 [HugePedia]
snp3D : Map Gene to Disease29979
BioCentury BCIQUBQLN1
ClinGenUBQLN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29979
Chemical/Pharm GKB GenePA37155
Clinical trialUBQLN1
Miscellaneous
canSAR (ICR)UBQLN1 (select the gene name)
Probes
Litterature
PubMed114 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBQLN1
EVEXUBQLN1
GoPubMedUBQLN1
iHOPUBQLN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:43:09 CEST 2017

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