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UBAC1 (UBA domain containing 1)

Identity

Alias (NCBI)GBDR1
KPC2
UBADC1
HGNC (Hugo) UBAC1
HGNC Alias symbGBDR1
KPC2
HGNC Alias nameKip1 ubiquitination-promoting complex subunit 2
HGNC Previous nameUBADC1
HGNC Previous nameubiquitin associated domain containing 1
LocusID (NCBI) 10422
Atlas_Id 75405
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 135932969 and ends at 135961380 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)
UBAC1 (9q34.3) / NAP1L1 (12q21.2)UBAC1 (9q34.3) / QSOX2 (9q34.3)UBAC1 (9q34.3) / UBAC1 (9q34.3)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  UBAC1/QSOX2 (9q34)

External links

Nomenclature
HGNC (Hugo)UBAC1   30221
Cards
Entrez_Gene (NCBI)UBAC1  10422  UBA domain containing 1
AliasesGBDR1; KPC2; UBADC1
GeneCards (Weizmann)UBAC1
Ensembl hg19 (Hinxton)ENSG00000130560 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130560 [Gene_View]  ENSG00000130560 [Sequence]  chr9:135932969-135961380 [Contig_View]  UBAC1 [Vega]
ICGC DataPortalENSG00000130560
TCGA cBioPortalUBAC1
AceView (NCBI)UBAC1
Genatlas (Paris)UBAC1
WikiGenes10422
SOURCE (Princeton)UBAC1
Genetics Home Reference (NIH)UBAC1
Genomic and cartography
GoldenPath hg38 (UCSC)UBAC1  -     chr9:135932969-135961380 -  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBAC1  -     9q34.3   [Description]    (hg19-Feb_2009)
GoldenPathUBAC1 - 9q34.3 [CytoView hg19]  UBAC1 - 9q34.3 [CytoView hg38]
ImmunoBaseENSG00000130560
genome Data Viewer NCBIUBAC1 [Mapview hg19]  
OMIM608129   
Gene and transcription
Genbank (Entrez)AF038200 AF068195 AF176796 BC004967 BC011822
RefSeq transcript (Entrez)NM_016172
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBAC1
Alternative Splicing GalleryENSG00000130560
Gene ExpressionUBAC1 [ NCBI-GEO ]   UBAC1 [ EBI - ARRAY_EXPRESS ]   UBAC1 [ SEEK ]   UBAC1 [ MEM ]
Gene Expression Viewer (FireBrowse)UBAC1 [ Firebrowse - Broad ]
GenevisibleExpression of UBAC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10422
GTEX Portal (Tissue expression)UBAC1
Human Protein AtlasENSG00000130560-UBAC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BSL1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BSL1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BSL1
Splice isoforms : SwissVarQ9BSL1
PhosPhoSitePlusQ9BSL1
Domaine pattern : Prosite (Expaxy)UBA (PS50030)   
Domains : Interpro (EBI)STI1_HS-bd    UBA    UBA-like_sf    UBA1_UBAC1    UBA2_UBAC1    Ubiquitin-like_domsf   
Domain families : Pfam (Sanger)UBA (PF00627)   
Domain families : Pfam (NCBI)pfam00627   
Domain families : Smart (EMBL)STI1 (SM00727)  UBA (SM00165)  
Conserved Domain (NCBI)UBAC1
DMDM Disease mutations10422
Blocks (Seattle)UBAC1
PDB (RSDB)2DAI   
PDB Europe2DAI   
PDB (PDBSum)2DAI   
PDB (IMB)2DAI   
Structural Biology KnowledgeBase2DAI   
SCOP (Structural Classification of Proteins)2DAI   
CATH (Classification of proteins structures)2DAI   
SuperfamilyQ9BSL1
Human Protein Atlas [tissue]ENSG00000130560-UBAC1 [tissue]
Peptide AtlasQ9BSL1
HPRD12170
IPIIPI00305442   
Protein Interaction databases
DIP (DOE-UCLA)Q9BSL1
IntAct (EBI)Q9BSL1
FunCoupENSG00000130560
BioGRIDUBAC1
STRING (EMBL)UBAC1
ZODIACUBAC1
Ontologies - Pathways
QuickGOQ9BSL1
Ontology : AmiGOprotein binding  Golgi apparatus  cytosol  plasma membrane  protein ubiquitination  extracellular exosome  
Ontology : EGO-EBIprotein binding  Golgi apparatus  cytosol  plasma membrane  protein ubiquitination  extracellular exosome  
NDEx NetworkUBAC1
Atlas of Cancer Signalling NetworkUBAC1
Wikipedia pathwaysUBAC1
Orthology - Evolution
OrthoDB10422
GeneTree (enSembl)ENSG00000130560
Phylogenetic Trees/Animal Genes : TreeFamUBAC1
HOGENOMQ9BSL1
Homologs : HomoloGeneUBAC1
Homology/Alignments : Family Browser (UCSC)UBAC1
Gene fusions - Rearrangements
Fusion : QuiverUBAC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBAC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBAC1
dbVarUBAC1
ClinVarUBAC1
1000_GenomesUBAC1 
Exome Variant ServerUBAC1
GNOMAD BrowserENSG00000130560
Varsome BrowserUBAC1
Genetic variants : HAPMAP10422
Genomic Variants (DGV)UBAC1 [DGVbeta]
DECIPHERUBAC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBAC1 
Mutations
ICGC Data PortalUBAC1 
TCGA Data PortalUBAC1 
Broad Tumor PortalUBAC1
OASIS PortalUBAC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBAC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUBAC1
Mutations and Diseases : HGMDUBAC1
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 UBAC1
DgiDB (Drug Gene Interaction Database)UBAC1
DoCM (Curated mutations)UBAC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBAC1 (select a term)
intoGenUBAC1
Cancer3DUBAC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608129   
Orphanet
DisGeNETUBAC1
MedgenUBAC1
Genetic Testing Registry UBAC1
NextProtQ9BSL1 [Medical]
TSGene10422
GENETestsUBAC1
Target ValidationUBAC1
Huge Navigator UBAC1 [HugePedia]
snp3D : Map Gene to Disease10422
BioCentury BCIQUBAC1
ClinGenUBAC1
Clinical trials, drugs, therapy
Protein Interactions : CTD10422
Pharm GKB GenePA162407814
Clinical trialUBAC1
Miscellaneous
canSAR (ICR)UBAC1 (select the gene name)
HarmonizomeUBAC1
DataMed IndexUBAC1
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBAC1
EVEXUBAC1
GoPubMedUBAC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 16:34:40 CEST 2020
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