• Gene id: 10054

Gene Summary

• Gene Symbol: UBA2   Gene   UCSC   Ensembl
• Aliases: ARX, HRIHFB2115, SAE2
• Gene name: ubiquitin like modifier activating enzyme 2
• Alternate names: SUMO-activating enzyme subunit 2, SUMO-1 activating enzyme subunit 2, SUMO1 activating enzyme subunit 2, UBA2, ubiquitin-activating enzyme E1 homolog, anthracycline-associated resistance ARX, ubiquitin-like 1-activating enzyme E1B,
• Gene location: 19q13.11 (34493289: 34891843)     Exons: 30     NC_000018.10
• 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 (MIM 613294) and UBA2 form a heterodimer that functions as a SUM
• OMIM: 613295

Protein Summary

• Protein general information: Q9UBT2  
  • Name: SUMO activating enzyme subunit 2 (EC 2.3.2. ) (Anthracycline associated resistance ARX) (Ubiquitin like 1 activating enzyme E1B) (Ubiquitin like modifier activating enzyme 2)
  • Length: 640  
  • Mass: 71224
• Sequence:

  MALSRGLPRELAEAVAGGRVLVVGAGGIGCELLKNLVLTGFSHIDLIDLDTIDVSNLNRQFLFQKKHVGRSKAQV
  AKESVLQFYPKANIVAYHDSIMNPDYNVEFFRQFILVMNALDNRAARNHVNRMCLAADVPLIESGTAGYLGQVTT
  IKKGVTECYECHPKPTQRTFPGCTIRNTPSEPIHCIVWAKYLFNQLFGEEDADQEVSPDRADPEAAWEPTEAEAR
  ARASNEDGDIKRISTKEWAKSTGYDPVKLFTKLFKDDIRYLLTMDKLWRKRKPPVPLDWAEVQSQGEETNASDQQ
  NEPQLGLKDQQVLDVKSYARLFSKSIETLRVHLAEKGDGAELIWDKDDPSAMDFVTSAANLRMHIFSMNMKSRFD
  IKSMAGNIIPAIATTNAVIAGLIVLEGLKILSGKIDQCRTIFLNKQPNPRKKLLVPCALDPPNPNCYVCASKPEV
  TVRLNVHKVTVLTLQDKIVKEKFAMVAPDVQIEDGKGTILISSEEGETEANNHKKLSEFGIRNGSRLQADDFLQD
  YTLLINILHSEDLGKDVEFEVVGDAPEKVGPKQAEDAAKSITNGSDDGAQPSTSTAQEQDDVLIVDSDEEDSSNN
  ADVSEEERSRKRKLDEKENLSAKRSRIEQKEELDDVIALD

• Structural information:
  • Interpro: IPR000594  IPR028077  IPR023318  IPR030661  IPR032426   IPR035985  IPR018074  IPR033127  
  • Prosite: PS00536 PS00865
  • PDB: 1Y8Q 1Y8R 2PX9 3KYC 3KYD 4W5V 5FQ2 6CWY 6CWZ
  • PDBsum: 1Y8Q 1Y8R 2PX9 3KYC 3KYD 4W5V 5FQ2 6CWY 6CWZ
  • DIP: 35136
  • STRING: ENSP00000246548
• Other Databases: GeneCards:  UBA2  Malacards:  UBA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0032446	protein modification by small protein conjugation	IBA	biological process
GO:0032446	protein modification by small protein conjugation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0016925	protein sumoylation	IBA	biological process
GO:0019948	SUMO activating enzyme activity	IBA	molecular function
GO:0031510	SUMO activating enzyme complex	IBA	cellular component
GO:0031510	SUMO activating enzyme complex	IDA	cellular component
GO:0019948	SUMO activating enzyme activity	IDA	molecular function
GO:0016925	protein sumoylation	IDA	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0008641	ubiquitin-like modifier activating enzyme activity	IEA	molecular function
GO:0016925	protein sumoylation	IEA	biological process
GO:0019948	SUMO activating enzyme activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016925	protein sumoylation	TAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0019948	SUMO activating enzyme activity	TAS	molecular function
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019948	SUMO activating enzyme activity	IEA	molecular function
GO:0008134	transcription factor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016925	protein sumoylation	IEA	biological process
GO:0000287	magnesium ion binding	IMP	molecular function
GO:0032183	SUMO binding	IPI	molecular function
GO:0016925	protein sumoylation	IMP	biological process
GO:0044388	small protein activating enzyme binding	IPI	molecular function
GO:0005524	ATP binding	IMP	molecular function
GO:0044390	ubiquitin-like protein conjugating enzyme binding	IPI	molecular function
GO:0033235	positive regulation of protein sumoylation	IDA	biological process
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

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881