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 |
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
|
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, rs483353038, rs61731956, rs568165874, rs767480544 View all (4 more) |
21833088, 26920376 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Multiple Sclerosis |
Multiple Sclerosis |
|
|
GWAS |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
|
|