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SAE1 (SUMO1 activating enzyme subunit 1)

Identity

Alias_symbol (synonym)AOS1
FLJ3091
Sua1
Other aliasHSPC140
SUA1
UBLE1A
HGNC (Hugo) SAE1
LocusID (NCBI) 10055
Atlas_Id 52591
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 47634080 and ends at 47713893 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PIK3C2G (12p12.3) / SAE1 (19q13.32)SAE1 (19q13.32) / WDR18 (19p13.3)SAE1 (19q13.32) / ZBTB45 (19q13.43)
SMURF2 (17q23.3) / SAE1 (19q13.32)SAE1 19q13.32 / WDR18 19p13.3SAE1 19q13.32 / ZBTB45 19q13.43

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)SAE1   30660
Cards
Entrez_Gene (NCBI)SAE1  10055  SUMO1 activating enzyme subunit 1
AliasesAOS1; HSPC140; SUA1; UBLE1A
GeneCards (Weizmann)SAE1
Ensembl hg19 (Hinxton)ENSG00000142230 [Gene_View]  chr19:47634080-47713893 [Contig_View]  SAE1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000142230 [Gene_View]  chr19:47634080-47713893 [Contig_View]  SAE1 [Vega]
ICGC DataPortalENSG00000142230
TCGA cBioPortalSAE1
AceView (NCBI)SAE1
Genatlas (Paris)SAE1
WikiGenes10055
SOURCE (Princeton)SAE1
Genetics Home Reference (NIH)SAE1
Genomic and cartography
GoldenPath hg19 (UCSC)SAE1  -     chr19:47634080-47713893 +  19q13.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SAE1  -     19q13.32   [Description]    (hg38-Dec_2013)
EnsemblSAE1 - 19q13.32 [CytoView hg19]  SAE1 - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBISAE1 [Mapview hg19]  SAE1 [Mapview hg38]
OMIM613294   
Gene and transcription
Genbank (Entrez)AF046025 AF090385 AF110956 AF161489 AI339364
RefSeq transcript (Entrez)NM_001145713 NM_001145714 NM_005500
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)SAE1
Cluster EST : UnigeneHs.515500 [ NCBI ]
CGAP (NCI)Hs.515500
Alternative Splicing GalleryENSG00000142230
Gene ExpressionSAE1 [ NCBI-GEO ]   SAE1 [ EBI - ARRAY_EXPRESS ]   SAE1 [ SEEK ]   SAE1 [ MEM ]
Gene Expression Viewer (FireBrowse)SAE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10055
GTEX Portal (Tissue expression)SAE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBE0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBE0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBE0
Splice isoforms : SwissVarQ9UBE0
PhosPhoSitePlusQ9UBE0
Domains : Interpro (EBI)NAD(P)-bd_dom    ThiF_NAD_FAD-bd    UBQ/SUMO-activ_enz_E1-like   
Domain families : Pfam (Sanger)ThiF (PF00899)   
Domain families : Pfam (NCBI)pfam00899   
Conserved Domain (NCBI)SAE1
DMDM Disease mutations10055
Blocks (Seattle)SAE1
PDB (SRS)1Y8Q    1Y8R    3KYC    3KYD   
PDB (PDBSum)1Y8Q    1Y8R    3KYC    3KYD   
PDB (IMB)1Y8Q    1Y8R    3KYC    3KYD   
PDB (RSDB)1Y8Q    1Y8R    3KYC    3KYD   
Structural Biology KnowledgeBase1Y8Q    1Y8R    3KYC    3KYD   
SCOP (Structural Classification of Proteins)1Y8Q    1Y8R    3KYC    3KYD   
CATH (Classification of proteins structures)1Y8Q    1Y8R    3KYC    3KYD   
SuperfamilyQ9UBE0
Human Protein AtlasENSG00000142230
Peptide AtlasQ9UBE0
HPRD18010
IPIIPI00033130   IPI00647006   IPI01012694   IPI00640965   IPI01011453   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBE0
IntAct (EBI)Q9UBE0
FunCoupENSG00000142230
BioGRIDSAE1
STRING (EMBL)SAE1
ZODIACSAE1
Ontologies - Pathways
QuickGOQ9UBE0
Ontology : AmiGOubiquitin activating enzyme activity  protein binding  nucleus  nucleus  nucleoplasm  cytosol  regulation of mitotic cell cycle  protein C-terminus binding  enzyme activator activity  protein ubiquitination  protein sumoylation  protein sumoylation  protein sumoylation  protein sumoylation  SUMO activating enzyme activity  SUMO activating enzyme complex  ATP-dependent protein binding  positive regulation of catalytic activity  protein heterodimerization activity  protein heterodimerization activity  positive regulation of protein targeting to mitochondrion  
Ontology : EGO-EBIubiquitin activating enzyme activity  protein binding  nucleus  nucleus  nucleoplasm  cytosol  regulation of mitotic cell cycle  protein C-terminus binding  enzyme activator activity  protein ubiquitination  protein sumoylation  protein sumoylation  protein sumoylation  protein sumoylation  SUMO activating enzyme activity  SUMO activating enzyme complex  ATP-dependent protein binding  positive regulation of catalytic activity  protein heterodimerization activity  protein heterodimerization activity  positive regulation of protein targeting to mitochondrion  
Pathways : BIOCARTAERĝassociated degradation (ERAD) Pathway [Genes]    Basic Mechanisms of SUMOylation [Genes]    SUMOylation as a mechanism to modulate CtBP-dependent gene responses [Genes]   
Pathways : KEGGUbiquitin mediated proteolysis   
NDEx NetworkSAE1
Atlas of Cancer Signalling NetworkSAE1
Wikipedia pathwaysSAE1
Orthology - Evolution
OrthoDB10055
GeneTree (enSembl)ENSG00000142230
Phylogenetic Trees/Animal Genes : TreeFamSAE1
HOVERGENQ9UBE0
HOGENOMQ9UBE0
Homologs : HomoloGeneSAE1
Homology/Alignments : Family Browser (UCSC)SAE1
Gene fusions - Rearrangements
Fusion : MitelmanSAE1/WDR18 [19q13.32/19p13.3]  
Fusion : MitelmanSAE1/ZBTB45 [19q13.32/19q13.43]  [t(19;19)(q13;q13)]  
Fusion: TCGASAE1 19q13.32 WDR18 19p13.3 KIRC
Fusion: TCGASAE1 19q13.32 ZBTB45 19q13.43 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSAE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SAE1
dbVarSAE1
ClinVarSAE1
1000_GenomesSAE1 
Exome Variant ServerSAE1
ExAC (Exome Aggregation Consortium)SAE1 (select the gene name)
Genetic variants : HAPMAP10055
Genomic Variants (DGV)SAE1 [DGVbeta]
DECIPHER (Syndromes)19:47634080-47713893  ENSG00000142230
CONAN: Copy Number AnalysisSAE1 
Mutations
ICGC Data PortalSAE1 
TCGA Data PortalSAE1 
Broad Tumor PortalSAE1
OASIS PortalSAE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSAE1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSAE1
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 SAE1
DgiDB (Drug Gene Interaction Database)SAE1
DoCM (Curated mutations)SAE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SAE1 (select a term)
intoGenSAE1
Cancer3DSAE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613294   
Orphanet
MedgenSAE1
Genetic Testing Registry SAE1
NextProtQ9UBE0 [Medical]
TSGene10055
GENETestsSAE1
Huge Navigator SAE1 [HugePedia]
snp3D : Map Gene to Disease10055
BioCentury BCIQSAE1
ClinGenSAE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10055
Chemical/Pharm GKB GenePA162402387
Clinical trialSAE1
Miscellaneous
canSAR (ICR)SAE1 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSAE1
EVEXSAE1
GoPubMedSAE1
iHOPSAE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:18:16 CEST 2017

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