• Gene id: 10055

Gene Summary

• Gene Symbol: SAE1   Gene   UCSC   Ensembl
• Aliases: AOS1, HSPC140, SUA1, UBLE1A
• Gene name: SUMO1 activating enzyme subunit 1
• Alternate names: SUMO-activating enzyme subunit 1, SUMO-1 activating enzyme E1 N subunit, SUMO-1 activating enzyme subunit 1, activator of SUMO1, sentrin/SUMO-activating protein AOS1, ubiquitin-like 1-activating enzyme E1A, ubiquitin-like protein SUMO-1 activating enzyme,
• Gene location: 19q13.32 (47130834: 47210635)     Exons: 9     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 613136

Protein Summary

• Protein general information: Q9UBE0  
  • Name: SUMO activating enzyme subunit 1 (Ubiquitin like 1 activating enzyme E1A) [Cleaved into: SUMO activating enzyme subunit 1, N terminally processed]
  • Length: 346  
  • Mass: 38450
  • Tissue specificity: Expression level increases during S phase and drops in G2 phase (at protein level). {ECO
• Sequence:

  MVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGLKGLGAEIAKNLILAGVKGLTMLDHEQVTPED
  PGAQFLIRTGSVGRNRAEASLERAQNLNPMVDVKVDTEDIEKKPESFFTQFDAVCLTCCSRDVIVKVDQICHKNS
  IKFFTGDVFGYHGYTFANLGEHEFVEEKTKVAKVSQGVEDGPDTKRAKLDSSETTMVKKKVVFCPVKEALEVDWS
  SEKAKAALKRTTSDYFLLQVLLKFRTDKGRDPSSDTYEEDSELLLQIRNDVLDSLGISPDLLPEDFVRYCFSEMA
  PVCAVVGGILAQEIVKALSQRDPPHNNFFFFDGMKGNGIVECLGPK

• Structural information:
  • Interpro: IPR000594  IPR035985  IPR000011  
  • PDB: 1Y8Q 1Y8R 3KYC 3KYD 6CWY 6CWZ
  • PDBsum: 1Y8Q 1Y8R 3KYC 3KYD 6CWY 6CWZ
  • DIP: 34587
  • STRING: ENSP00000270225
• Other Databases: GeneCards:  SAE1  Malacards:  SAE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903955	positive regulation of protein targeting to mitochondrion	HMP	biological process
GO:0032446	protein modification by small protein conjugation	IBA	biological process
GO:0032446	protein modification by small protein conjugation	IBA	biological process
GO:0031510	SUMO activating enzyme complex	IBA	cellular component
GO:0016925	protein sumoylation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0031510	SUMO activating enzyme complex	IDA	cellular component
GO:0019948	SUMO activating enzyme activity	IDA	contributes to
GO:0016925	protein sumoylation	IDA	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0006464	cellular protein modification process	IEA	biological process
GO:0008641	ubiquitin-like modifier activating enzyme activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0008047	enzyme activator activity	TAS	molecular function
GO:0016925	protein sumoylation	TAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016925	protein sumoylation	IEA	biological process
GO:0044388	small protein activating enzyme binding	IPI	molecular function
GO:0016925	protein sumoylation	IDA	biological process
GO:0033235	positive regulation of protein sumoylation	IDA	biological process
GO:0043008	ATP-dependent protein binding	IDA	molecular function
GO:0008022	protein C-terminus binding	IDA	molecular function
GO:0031510	SUMO activating enzyme complex	IDA	cellular component
GO:0019948	SUMO activating enzyme activity	IDA	contributes to
GO:0031510	SUMO activating enzyme complex	IDA	cellular component
GO:0016925	protein sumoylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004839	ubiquitin activating enzyme activity	TAS	molecular function
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R