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UBQLN1 (ubiquilin 1)

Identity

Alias (NCBI)DA41
DSK2
PLIC-1
UBQN
XDRP1
HGNC (Hugo) UBQLN1
HGNC Alias symbDSK2
PLIC-1
XDRP1
DA41
LocusID (NCBI) 29979
Atlas_Id 52768
Location 9q21.32  [Link to chromosome band 9q21]
Location_base_pair Starts at 83659968 and ends at 83707958 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    ubiquilin 1
AliasesDA41; DSK2; PLIC-1; UBQN; 
XDRP1
GeneCards (Weizmann)UBQLN1
Ensembl hg19 (Hinxton)ENSG00000135018 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135018 [Gene_View]  ENSG00000135018 [Sequence]  chr9:83659968-83707958 [Contig_View]  UBQLN1 [Vega]
ICGC DataPortalENSG00000135018
TCGA cBioPortalUBQLN1
AceView (NCBI)UBQLN1
Genatlas (Paris)UBQLN1
SOURCE (Princeton)UBQLN1
Genetics Home Reference (NIH)UBQLN1
Genomic and cartography
GoldenPath hg38 (UCSC)UBQLN1  -     chr9:83659968-83707958 -  9q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBQLN1  -     9q21.32   [Description]    (hg19-Feb_2009)
GoldenPathUBQLN1 - 9q21.32 [CytoView hg19]  UBQLN1 - 9q21.32 [CytoView hg38]
ImmunoBaseENSG00000135018
Genome Data Viewer NCBIUBQLN1 [Mapview hg19]  
OMIM605046   
Gene and transcription
Genbank (Entrez)AB035275 AB209468 AF176069 AF293384 AK027556
RefSeq transcript (Entrez)NM_013438 NM_053067
Consensus coding sequences : CCDS (NCBI)UBQLN1
Gene ExpressionUBQLN1 [ NCBI-GEO ]   UBQLN1 [ EBI - ARRAY_EXPRESS ]   UBQLN1 [ SEEK ]   UBQLN1 [ MEM ]
Gene Expression Viewer (FireBrowse)UBQLN1 [ Firebrowse - Broad ]
GenevisibleExpression of UBQLN1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29979
GTEX Portal (Tissue expression)UBQLN1
Human Protein AtlasENSG00000135018-UBQLN1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UMX0
Domaine pattern : Prosite (Expaxy)UBA (PS50030)    UBIQUITIN_2 (PS50053)   
Domains : Interpro (EBI)STI1_HS-bd    UBA    UBA-like_sf    Ubiquilin-1/2    Ubiquitin-like_dom    Ubiquitin-like_domsf   
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
PDB (RSDB)2JY5    2JY6    2KLC   
PDB Europe2JY5    2JY6    2KLC   
PDB (PDBSum)2JY5    2JY6    2KLC   
PDB (IMB)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
AlphaFold pdb e-kbQ9UMX0   
Human Protein Atlas [tissue]ENSG00000135018-UBQLN1 [tissue]
HPRD05440
Protein Interaction databases
DIP (DOE-UCLA)Q9UMX0
IntAct (EBI)Q9UMX0
BioGRIDUBQLN1
STRING (EMBL)UBQLN1
ZODIACUBQLN1
Ontologies - Pathways
QuickGOQ9UMX0
Ontology : AmiGOautophagosome assembly  autophagosome assembly  proteasome complex  protein binding  nucleoplasm  cytoplasm  cytoplasm  autophagosome  autophagosome  endoplasmic reticulum  cytosol  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  aggresome  macroautophagy  regulation of macroautophagy  kinase binding  ubiquitin-dependent ERAD pathway  ubiquitin-dependent ERAD pathway  regulation of protein ubiquitination  positive regulation of protein ubiquitination  cytoplasmic vesicle  polyubiquitin modification-dependent protein binding  polyubiquitin modification-dependent protein binding  protein-containing complex  response to endoplasmic reticulum stress  aggrephagy  identical protein binding  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  autophagosome assembly  proteasome complex  protein binding  nucleoplasm  cytoplasm  cytoplasm  autophagosome  autophagosome  endoplasmic reticulum  cytosol  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  aggresome  macroautophagy  regulation of macroautophagy  kinase binding  ubiquitin-dependent ERAD pathway  ubiquitin-dependent ERAD pathway  regulation of protein ubiquitination  positive regulation of protein ubiquitination  cytoplasmic vesicle  polyubiquitin modification-dependent protein binding  polyubiquitin modification-dependent protein binding  protein-containing complex  response to endoplasmic reticulum stress  aggrephagy  identical protein binding  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
Homologs : HomoloGeneUBQLN1
Homology/Alignments : Family Browser (UCSC)UBQLN1
Gene fusions - Rearrangements
Fusion : MitelmanUBQLN1/GKAP1 [9q21.32/9q21.32]  
Fusion : QuiverUBQLN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBQLN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBQLN1
dbVarUBQLN1
ClinVarUBQLN1
MonarchUBQLN1
1000_GenomesUBQLN1 
Exome Variant ServerUBQLN1
GNOMAD BrowserENSG00000135018
Varsome BrowserUBQLN1
ACMGUBQLN1 variants
VarityQ9UMX0
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]  
Somatic Mutations in Cancer : COSMIC3DUBQLN1
Mutations and Diseases : HGMDUBQLN1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaUBQLN1
DgiDB (Drug Gene Interaction Database)UBQLN1
DoCM (Curated mutations)UBQLN1
CIViC (Clinical Interpretations of Variants in Cancer)UBQLN1
Cancer3DUBQLN1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605046   
Orphanet
DisGeNETUBQLN1
MedgenUBQLN1
Genetic Testing Registry UBQLN1
NextProtQ9UMX0 [Medical]
GENETestsUBQLN1
Target ValidationUBQLN1
Huge Navigator UBQLN1 [HugePedia]
ClinGenUBQLN1
Clinical trials, drugs, therapy
MyCancerGenomeUBQLN1
Protein Interactions : CTDUBQLN1
Pharm GKB GenePA37155
PharosQ9UMX0
Clinical trialUBQLN1
Miscellaneous
canSAR (ICR)UBQLN1
HarmonizomeUBQLN1
DataMed IndexUBQLN1
Probes
Litterature
PubMed157 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXUBQLN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:37:14 CEST 2021

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