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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 SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
SAE1 (SUMO1 Activating Enzyme Subunit 1) is a Protein Coding gene. Diseases associated with SAE1 include Adult Dermatomyositis. Among its related pathways are Ubiquitin mediated proteolysis and SUMOylation. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and enzyme activator activity. An important paralog of this gene is UBA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004839 | ubiquitin activating enzyme activity | TAS | 10187858 |
GO:0005515 | protein binding | IPI | 10187858 |
GO:0008022 | protein C-terminus binding | IDA | 10187858 |
GO:0008047 | enzyme activator activity | TAS | 9920803 |
GO:0008641 | ubiquitin-like modifier activating enzyme activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,HDA | 16791210 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0031510 | SUMO activating enzyme complex | IBA,IDA | 10187858 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | SUMOylation |
.95
|
|
2 | Metabolism of proteins | ||
3 | Proteolysis Putative SUMO-1 pathway |
DNA damage Role of SUMO in p53 regulation
.35
|
Proteolysis Putative SUMO-1 pathway
.35
|
4 | Ubiquitin mediated proteolysis | ||
5 | 4-1BB Pathway |
SUMO Pathway
.30
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006464 | cellular protein modification process | IEA | -- |
GO:0016567 | protein ubiquitination | IEA | -- |
GO:0016925 | protein sumoylation | IBA,TAS | -- |
GO:0018215 | protein phosphopantetheinylation | IEA | -- |
GO:0032446 | protein modification by small protein conjugation | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | · | 14c | · | 14d | · | 14e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | |||||||||||||||||||||||||||||||||||||||
SP10: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SAE1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SAE1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SAE1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sae1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SAE1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sae1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SAE1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SAE1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sae1 30 |
|
||
Str.7505 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7420 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sae1 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4380 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004459 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Aos1 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | aos-1 30 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AOS1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E04863g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SAE1B 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os11g0497000 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU09006 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rad31 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs117605411 | Benign: not provided | 47,197,285(+) |
T/C NM_005500.3(SAE1):c.786T>C (p.Tyr262=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv650e199 | CNV | deletion | 23128226 |
esv2659430 | CNV | deletion | 23128226 |
esv2718661 | CNV | deletion | 23290073 |
esv3556490 | CNV | deletion | 23714750 |
esv3644546 | CNV | loss | 21293372 |
esv3644547 | CNV | loss | 21293372 |
esv3644548 | CNV | loss | 21293372 |
nsv1067417 | CNV | gain | 25217958 |
nsv1116337 | CNV | deletion | 24896259 |
nsv1131432 | CNV | deletion | 24896259 |
nsv1138713 | CNV | deletion | 24896259 |
nsv512586 | CNV | loss | 21212237 |
nsv833851 | CNV | loss | 17160897 |
nsv833852 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
adult dermatomyositis |
|
|