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UBA1 (ubiquitin like modifier activating enzyme 1)

Identity

Alias_namesA1S9T
GXP1
UBE1
ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)
ubiquitin-activating enzyme E1
ubiquitin-like modifier activating enzyme 1
Alias_symbol (synonym)UBE1X
POC20
CFAP124
HGNC (Hugo) UBA1
LocusID (NCBI) 7317
Atlas_Id 42744
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 47053201 and ends at 47074527 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACTB (7p22.1) / UBA1 (Xp11.23)CDK4 (12q14.1) / UBA1 (Xp11.23)DECR2 (16p13.3) / UBA1 (Xp11.23)
ESRRG (1q41) / UBA1 (Xp11.23)UBA1 (Xp11.23) / CERS2 (1q21.3)UBA1 (Xp11.23) / FAT4 (4q28.1)
UBA1 (Xp11.23) / LASP1 (17q12)UBA1 (Xp11.23) / PRTFDC1 (10p12.1)UBA1 (Xp11.23) / SGSM2 (17p13.3)
UBA1 (Xp11.23) / UBA1 (Xp11.23)ZNF326 (1p22.2) / UBA1 (Xp11.23)

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)UBA1   12469
Cards
Entrez_Gene (NCBI)UBA1  7317  ubiquitin like modifier activating enzyme 1
AliasesA1S9; A1S9T; A1ST; AMCX1; 
CFAP124; GXP1; POC20; SMAX2; UBA1A; UBE1; UBE1X
GeneCards (Weizmann)UBA1
Ensembl hg19 (Hinxton)ENSG00000130985 [Gene_View]  chrX:47053201-47074527 [Contig_View]  UBA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130985 [Gene_View]  chrX:47053201-47074527 [Contig_View]  UBA1 [Vega]
ICGC DataPortalENSG00000130985
TCGA cBioPortalUBA1
AceView (NCBI)UBA1
Genatlas (Paris)UBA1
WikiGenes7317
SOURCE (Princeton)UBA1
Genetics Home Reference (NIH)UBA1
Genomic and cartography
GoldenPath hg19 (UCSC)UBA1  -     chrX:47053201-47074527 +  Xp11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)UBA1  -     Xp11.23   [Description]    (hg38-Dec_2013)
EnsemblUBA1 - Xp11.23 [CytoView hg19]  UBA1 - Xp11.23 [CytoView hg38]
Mapping of homologs : NCBIUBA1 [Mapview hg19]  UBA1 [Mapview hg38]
OMIM301830   314370   
Gene and transcription
Genbank (Entrez)AF258566 AK097343 AK131341 AK293161 AK296866
RefSeq transcript (Entrez)NM_003334 NM_153280
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_009161 NT_079573 NW_004929439
Consensus coding sequences : CCDS (NCBI)UBA1
Cluster EST : UnigeneHs.533273 [ NCBI ]
CGAP (NCI)Hs.533273
Alternative Splicing GalleryENSG00000130985
Gene ExpressionUBA1 [ NCBI-GEO ]   UBA1 [ EBI - ARRAY_EXPRESS ]   UBA1 [ SEEK ]   UBA1 [ MEM ]
Gene Expression Viewer (FireBrowse)UBA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7317
GTEX Portal (Tissue expression)UBA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22314   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22314  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22314
Splice isoforms : SwissVarP22314
PhosPhoSitePlusP22314
Domaine pattern : Prosite (Expaxy)UBIQUITIN_ACTIVAT_1 (PS00536)    UBIQUITIN_ACTIVAT_2 (PS00865)   
Domains : Interpro (EBI)E1_4HB    E1_FCCH    NAD(P)-bd_dom    ThiF_NAD_FAD-bd    Ub-activating_enz_E1_C    UBA_E1_Cys    UBQ-activ_enz_E1    UBQ-activ_enz_E1_CS    UBQ-activ_enz_E1_Cys_AS    UBQ/SUMO-activ_enz_E1-like   
Domain families : Pfam (Sanger)E1_4HB (PF16191)    E1_FCCH (PF16190)    E1_UFD (PF09358)    ThiF (PF00899)    UBA_e1_thiolCys (PF10585)   
Domain families : Pfam (NCBI)pfam16191    pfam16190    pfam09358    pfam00899    pfam10585   
Domain families : Smart (EMBL)UBA_e1_C (SM00985)  
Conserved Domain (NCBI)UBA1
DMDM Disease mutations7317
Blocks (Seattle)UBA1
PDB (SRS)4P22   
PDB (PDBSum)4P22   
PDB (IMB)4P22   
PDB (RSDB)4P22   
Structural Biology KnowledgeBase4P22   
SCOP (Structural Classification of Proteins)4P22   
CATH (Classification of proteins structures)4P22   
SuperfamilyP22314
Human Protein AtlasENSG00000130985
Peptide AtlasP22314
HPRD02440
IPIIPI00645078   IPI00908755   IPI00383182   IPI00026119   IPI00644183   IPI00647463   IPI00646990   IPI00641319   IPI00552452   
Protein Interaction databases
DIP (DOE-UCLA)P22314
IntAct (EBI)P22314
FunCoupENSG00000130985
BioGRIDUBA1
STRING (EMBL)UBA1
ZODIACUBA1
Ontologies - Pathways
QuickGOP22314
Ontology : AmiGOheterochromatin  ubiquitin activating enzyme activity  ubiquitin-protein transferase activity  protein binding  ATP binding  nucleus  cytoplasm  mitochondrion  lysosomal membrane  cytosol  cellular response to DNA damage stimulus  endosome membrane  protein ubiquitination  modification-dependent protein catabolic process  desmosome  rough endoplasmic reticulum membrane  poly(A) RNA binding  extracellular exosome  
Ontology : EGO-EBIheterochromatin  ubiquitin activating enzyme activity  ubiquitin-protein transferase activity  protein binding  ATP binding  nucleus  cytoplasm  mitochondrion  lysosomal membrane  cytosol  cellular response to DNA damage stimulus  endosome membrane  protein ubiquitination  modification-dependent protein catabolic process  desmosome  rough endoplasmic reticulum membrane  poly(A) RNA binding  extracellular exosome  
Pathways : KEGGUbiquitin mediated proteolysis    Parkinson's disease   
NDEx NetworkUBA1
Atlas of Cancer Signalling NetworkUBA1
Wikipedia pathwaysUBA1
Orthology - Evolution
OrthoDB7317
GeneTree (enSembl)ENSG00000130985
Phylogenetic Trees/Animal Genes : TreeFamUBA1
HOVERGENP22314
HOGENOMP22314
Homologs : HomoloGeneUBA1
Homology/Alignments : Family Browser (UCSC)UBA1
Gene fusions - Rearrangements
Fusion : MitelmanCDK4/UBA1 [12q14.1/Xp11.23]  [t(X;12)(p11;q14)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBA1
dbVarUBA1
ClinVarUBA1
1000_GenomesUBA1 
Exome Variant ServerUBA1
ExAC (Exome Aggregation Consortium)UBA1 (select the gene name)
Genetic variants : HAPMAP7317
Genomic Variants (DGV)UBA1 [DGVbeta]
DECIPHER (Syndromes)X:47053201-47074527  ENSG00000130985
CONAN: Copy Number AnalysisUBA1 
Mutations
ICGC Data PortalUBA1 
TCGA Data PortalUBA1 
Broad Tumor PortalUBA1
OASIS PortalUBA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUBA1
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch UBA1
DgiDB (Drug Gene Interaction Database)UBA1
DoCM (Curated mutations)UBA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBA1 (select a term)
intoGenUBA1
Cancer3DUBA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM301830    314370   
Orphanet1414   
MedgenUBA1
Genetic Testing Registry UBA1
NextProtP22314 [Medical]
TSGene7317
GENETestsUBA1
Huge Navigator UBA1 [HugePedia]
snp3D : Map Gene to Disease7317
BioCentury BCIQUBA1
ClinGenUBA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7317
Chemical/Pharm GKB GenePA37119
Clinical trialUBA1
Miscellaneous
canSAR (ICR)UBA1 (select the gene name)
Probes
Litterature
PubMed115 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBA1
EVEXUBA1
GoPubMedUBA1
iHOPUBA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:54:59 CET 2016

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