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UBA1 (ubiquitin-like modifier activating enzyme 1)

Identity

Other namesA1S9
A1S9T
A1ST
AMCX1
GXP1
POC20
SMAX2
UBA1A
UBE1
UBE1X
HGNC (Hugo) UBA1
LocusID (NCBI) 7317
Location Xp11.23
Location_base_pair Starts at 47053201 and ends at 47074527 bp from pter ( according to hg19-Feb_2009)
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
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
cBioPortalUBA1
AceView (NCBI)UBA1
Genatlas (Paris)UBA1
WikiGenes7317
SOURCE (Princeton)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)AC_000155 NC_000023 NC_018934 NG_009161 NT_079573 NW_001842362 NW_004929439
Consensus coding sequences : CCDS (NCBI)UBA1
Cluster EST : UnigeneHs.533273 [ NCBI ]
CGAP (NCI)Hs.533273
Alternative Splicing : Fast-db (Paris)GSHG0031491
Alternative Splicing GalleryENSG00000130985
Gene ExpressionUBA1 [ NCBI-GEO ]     UBA1 [ SEEK ]   UBA1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22314 (Uniprot)
NextProtP22314  [Medical]
With graphics : InterProP22314
Splice isoforms : SwissVarP22314 (Swissvar)
Domaine pattern : Prosite (Expaxy)UBIQUITIN_ACTIVAT_1 (PS00536)    UBIQUITIN_ACTIVAT_2 (PS00865)   
Domains : Interpro (EBI)Molybdenum_cofac_synth_MoeB    NAD(P)-bd_dom    ThiF_NAD_FAD-bd    Ub-activating_enz_e1_C    Ub-like_act_enz_cat_cys_dom    UBact_repeat    Ubiquitin-activating_enzyme    UBQ-activ_enz_E1    UBQ-activ_enz_E1_AS    UBQ/SUMO-activ_enz_E1-like   
Related proteins : CluSTrP22314
Domain families : Pfam (Sanger)ThiF (PF00899)    UBA_e1_C (PF09358)    UBA_e1_thiolCys (PF10585)    UBACT (PF02134)   
Domain families : Pfam (NCBI)pfam00899    pfam09358    pfam10585    pfam02134   
Domain families : Smart (EMBL)UBA_e1_C (SM00985)  
DMDM Disease mutations7317
Blocks (Seattle)P22314
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
IntegromeDBUBA1
STRING (EMBL)UBA1
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  cell death  endosome membrane  protein ubiquitination  protein ubiquitination  modification-dependent protein catabolic process  desmosome  rough endoplasmic reticulum membrane  poly(A) RNA binding  extracellular vesicular 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  cell death  endosome membrane  protein ubiquitination  protein ubiquitination  modification-dependent protein catabolic process  desmosome  rough endoplasmic reticulum membrane  poly(A) RNA binding  extracellular vesicular exosome  
Pathways : KEGGUbiquitin mediated proteolysis    Parkinson's disease   
Protein Interaction DatabaseUBA1
DoCM (Curated mutations)UBA1
Wikipedia pathwaysUBA1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerUBA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBA1
dbVarUBA1
ClinVarUBA1
1000_GenomesUBA1 
Exome Variant ServerUBA1
SNP (GeneSNP Utah)UBA1
SNP : HGBaseUBA1
Genetic variants : HAPMAPUBA1
Genomic VariantsUBA1  UBA1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000130985 
Somatic Mutations in Cancer : COSMICUBA1 
CONAN: Copy Number AnalysisUBA1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:47053201-47074527
Mutations and Diseases : HGMDUBA1
OMIM301830    314370   
MedgenUBA1
NextProtP22314 [Medical]
GENETestsUBA1
Disease Genetic AssociationUBA1
Huge Navigator UBA1 [HugePedia]  UBA1 [HugeCancerGEM]
snp3D : Map Gene to Disease7317
DGIdb (Drug Gene Interaction db)UBA1
General knowledge
Homologs : HomoloGeneUBA1
Homology/Alignments : Family Browser (UCSC)UBA1
Phylogenetic Trees/Animal Genes : TreeFamUBA1
Chemical/Protein Interactions : CTD7317
Chemical/Pharm GKB GenePA37119
Clinical trialUBA1
Cancer Resource (Charite)ENSG00000130985
Other databases
Probes
Litterature
PubMed102 Pubmed reference(s) in Entrez
CoreMineUBA1
GoPubMedUBA1
iHOPUBA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:10:03 CET 2014

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