Atlas of Genetics and Cytogenetics in Oncology and Haematology

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UBA3 (ubiquitin like modifier activating enzyme 3)

Identity

Alias (NCBI)NAE2
UBE1C
hUBA3
HGNC (Hugo) UBA3
HGNC Alias symbhUba3
NAE2
HGNC Alias nameNEDD8-activating enzyme E1 catalytic subunit
 NEDD8-activating enzyme E1 subunit 2
HGNC Previous nameUBE1C
HGNC Previous nameubiquitin-activating enzyme E1C (homologous to yeast UBA3)
 ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)
 ubiquitin-like modifier activating enzyme 3
LocusID (NCBI) 9039
Atlas_Id 47097
Location 3p14.1  [Link to chromosome band 3p14]
Location_base_pair Starts at 69054730 and ends at 69080365 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)
SSR3 (3q25.31) / UBA3 (3p14.1)UBA3 (3p14.1) / FRMD4B (3p14.1)UBA3 (3p14.1) / UBA3 (3p14.1)
UBA3 3p14.1 / FRMD4B 3p14.1

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 ]
  UBA3/FRMD4B (3p14)

External links

Nomenclature
HGNC (Hugo)UBA3   12470
Cards
Entrez_Gene (NCBI)UBA3  9039  ubiquitin like modifier activating enzyme 3
AliasesNAE2; UBE1C; hUBA3
GeneCards (Weizmann)UBA3
Ensembl hg19 (Hinxton)ENSG00000144744 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144744 [Gene_View]  ENSG00000144744 [Sequence]  chr3:69054730-69080365 [Contig_View]  UBA3 [Vega]
ICGC DataPortalENSG00000144744
TCGA cBioPortalUBA3
AceView (NCBI)UBA3
Genatlas (Paris)UBA3
WikiGenes9039
SOURCE (Princeton)UBA3
Genetics Home Reference (NIH)UBA3
Genomic and cartography
GoldenPath hg38 (UCSC)UBA3  -     chr3:69054730-69080365 -  3p14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UBA3  -     3p14.1   [Description]    (hg19-Feb_2009)
GoldenPathUBA3 - 3p14.1 [CytoView hg19]  UBA3 - 3p14.1 [CytoView hg38]
ImmunoBaseENSG00000144744
genome Data Viewer NCBIUBA3 [Mapview hg19]  
OMIM603172   
Gene and transcription
Genbank (Entrez)AB012190 AF046024 AK002159 AK289392 AK298878
RefSeq transcript (Entrez)NM_001363861 NM_003968 NM_198195 NM_198197
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UBA3
Alternative Splicing GalleryENSG00000144744
Gene ExpressionUBA3 [ NCBI-GEO ]   UBA3 [ EBI - ARRAY_EXPRESS ]   UBA3 [ SEEK ]   UBA3 [ MEM ]
Gene Expression Viewer (FireBrowse)UBA3 [ Firebrowse - Broad ]
GenevisibleExpression of UBA3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9039
GTEX Portal (Tissue expression)UBA3
Human Protein AtlasENSG00000144744-UBA3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TBC4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TBC4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TBC4
Splice isoforms : SwissVarQ8TBC4
Catalytic activity : Enzyme6.2.1.- [ Enzyme-Expasy ]   6.2.1.-6.2.1.- [ IntEnz-EBI ]   6.2.1.- [ BRENDA ]   6.2.1.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ8TBC4
Domaine pattern : Prosite (Expaxy)UBIQUITIN_ACTIVAT_2 (PS00865)   
Domains : Interpro (EBI)E2-binding    ThiF_NAD_FAD-bd    Ub_act_enz_dom_a_sf    Uba3    Ubiquitin-activating_enz    UBQ-activ_enz_E1_Cys_AS   
Domain families : Pfam (Sanger)E2_bind (PF08825)    ThiF (PF00899)   
Domain families : Pfam (NCBI)pfam08825    pfam00899   
Domain families : Smart (EMBL)E2_bind (SM01181)  
Conserved Domain (NCBI)UBA3
DMDM Disease mutations9039
Blocks (Seattle)UBA3
PDB (RSDB)1R4M    1R4N    1TT5    1Y8X    1YOV    2LQ7    2NVU    3DBH    3DBL    3DBR    3FN1    3GZN    5JJM   
PDB Europe1R4M    1R4N    1TT5    1Y8X    1YOV    2LQ7    2NVU    3DBH    3DBL    3DBR    3FN1    3GZN    5JJM   
PDB (PDBSum)1R4M    1R4N    1TT5    1Y8X    1YOV    2LQ7    2NVU    3DBH    3DBL    3DBR    3FN1    3GZN    5JJM   
PDB (IMB)1R4M    1R4N    1TT5    1Y8X    1YOV    2LQ7    2NVU    3DBH    3DBL    3DBR    3FN1    3GZN    5JJM   
Structural Biology KnowledgeBase1R4M    1R4N    1TT5    1Y8X    1YOV    2LQ7    2NVU    3DBH    3DBL    3DBR    3FN1    3GZN    5JJM   
SCOP (Structural Classification of Proteins)1R4M    1R4N    1TT5    1Y8X    1YOV    2LQ7    2NVU    3DBH    3DBL    3DBR    3FN1    3GZN    5JJM   
CATH (Classification of proteins structures)1R4M    1R4N    1TT5    1Y8X    1YOV    2LQ7    2NVU    3DBH    3DBL    3DBR    3FN1    3GZN    5JJM   
SuperfamilyQ8TBC4
Human Protein Atlas [tissue]ENSG00000144744-UBA3 [tissue]
Peptide AtlasQ8TBC4
HPRD04413
IPIIPI00328154   IPI00375533   IPI00917001   IPI00945816   IPI00945472   
Protein Interaction databases
DIP (DOE-UCLA)Q8TBC4
IntAct (EBI)Q8TBC4
FunCoupENSG00000144744
BioGRIDUBA3
STRING (EMBL)UBA3
ZODIACUBA3
Ontologies - Pathways
QuickGOQ8TBC4
Ontology : AmiGOprotein binding  ATP binding  nucleus  nucleus  cytoplasm  cytosol  cellular protein modification process  proteolysis  endomitotic cell cycle  nuclear receptor binding  NEDD8 activating enzyme activity  NEDD8 activating enzyme activity  NEDD8 transferase activity  protein modification by small protein conjugation  protein-containing complex  identical protein binding  post-translational protein modification  protein-containing complex binding  protein neddylation  protein neddylation  protein neddylation  negative regulation of transcription, DNA-templated  protein heterodimerization activity  regulation of cell cycle  
Ontology : EGO-EBIprotein binding  ATP binding  nucleus  nucleus  cytoplasm  cytosol  cellular protein modification process  proteolysis  endomitotic cell cycle  nuclear receptor binding  NEDD8 activating enzyme activity  NEDD8 activating enzyme activity  NEDD8 transferase activity  protein modification by small protein conjugation  protein-containing complex  identical protein binding  post-translational protein modification  protein-containing complex binding  protein neddylation  protein neddylation  protein neddylation  negative regulation of transcription, DNA-templated  protein heterodimerization activity  regulation of cell cycle  
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkUBA3
Atlas of Cancer Signalling NetworkUBA3
Wikipedia pathwaysUBA3
Orthology - Evolution
OrthoDB9039
GeneTree (enSembl)ENSG00000144744
Phylogenetic Trees/Animal Genes : TreeFamUBA3
HOGENOMQ8TBC4
Homologs : HomoloGeneUBA3
Homology/Alignments : Family Browser (UCSC)UBA3
Gene fusions - Rearrangements
Fusion : MitelmanUBA3/FRMD4B [3p14.1/3p14.1]  
Fusion PortalUBA3 3p14.1 FRMD4B 3p14.1 BRCA
Fusion : QuiverUBA3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUBA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UBA3
dbVarUBA3
ClinVarUBA3
1000_GenomesUBA3 
Exome Variant ServerUBA3
GNOMAD BrowserENSG00000144744
Varsome BrowserUBA3
Genetic variants : HAPMAP9039
Genomic Variants (DGV)UBA3 [DGVbeta]
DECIPHERUBA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUBA3 
Mutations
ICGC Data PortalUBA3 
TCGA Data PortalUBA3 
Broad Tumor PortalUBA3
OASIS PortalUBA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUBA3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DUBA3
Mutations and Diseases : HGMDUBA3
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 UBA3
DgiDB (Drug Gene Interaction Database)UBA3
DoCM (Curated mutations)UBA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UBA3 (select a term)
intoGenUBA3
Cancer3DUBA3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603172   
Orphanet
DisGeNETUBA3
MedgenUBA3
Genetic Testing Registry UBA3
NextProtQ8TBC4 [Medical]
TSGene9039
GENETestsUBA3
Target ValidationUBA3
Huge Navigator UBA3 [HugePedia]
snp3D : Map Gene to Disease9039
BioCentury BCIQUBA3
ClinGenUBA3
Clinical trials, drugs, therapy
Protein Interactions : CTD9039
Pharm GKB GenePA162407622
Clinical trialUBA3
Miscellaneous
canSAR (ICR)UBA3 (select the gene name)
HarmonizomeUBA3
DataMed IndexUBA3
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUBA3
EVEXUBA3
GoPubMedUBA3
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 : Thu Jul 16 15:41:17 CEST 2020
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