Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10055
Gene name Gene Name - the full gene name approved by the HGNC.
SUMO1 activating enzyme subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SAE1
Synonyms (NCBI Gene) Gene synonyms aliases
AOS1, HSPC140, SUA1, UBLE1A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AOS1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUM
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT043603 hsa-miR-151a-3p CLASH 23622248
MIRT042940 hsa-miR-324-3p CLASH 23622248
MIRT040267 hsa-miR-615-3p CLASH 23622248
MIRT036348 hsa-miR-1229-3p CLASH 23622248
MIRT293793 hsa-miR-6816-3p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004839 Function Ubiquitin activating enzyme activity TAS 10187858
GO:0005515 Function Protein binding IPI 10187858, 15660128, 16189514, 20164921, 26496610, 28514442, 31515488, 32296183
GO:0005634 Component Nucleus HDA 16791210
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613294 30660 ENSG00000142230
Protein
UniProt ID Q9UBE0
Protein name SUMO-activating enzyme subunit 1 (Ubiquitin-like 1-activating enzyme E1A) [Cleaved into: SUMO-activating enzyme subunit 1, N-terminally processed]
Protein function The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue
PDB 1Y8Q , 1Y8R , 3KYC , 3KYD , 6CWY , 6CWZ , 6XOG , 6XOH , 6XOI , 8VY5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00899 ThiF 19 340 ThiF family Domain
Tissue specificity TISSUE SPECIFICITY: Expression level increases during S phase and drops in G2 phase (at protein level). {ECO:0000269|PubMed:11481243}.
Sequence
Sequence length 346
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ubiquitin mediated proteolysis   SUMO is conjugated to E1 (UBA2:SAE1)
SUMO is transferred from E1 to E2 (UBE2I, UBC9)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)
21833088, 26920376
Unknown
Disease term Disease name Evidence References Source
Multiple Sclerosis Multiple Sclerosis GWAS
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 23275889
Breast Neoplasms Associate 39742381
Carcinoma Hepatocellular Associate 33477333, 36748193
Carcinoma Non Small Cell Lung Associate 35606717
Cholangiocarcinoma Associate 37705041
Glioma Associate 19544381
Glioma Stimulate 33477333
Lymphatic Metastasis Associate 39742381
Neoplasm Metastasis Associate 39742381
Neoplasms Associate 19544381, 33477333, 39742381