• Gene id: 9039

Gene Summary

• Gene Symbol: UBA3   Gene   UCSC   Ensembl
• Aliases: NAE2, UBE1C, hUBA3
• Gene name: ubiquitin like modifier activating enzyme 3
• Alternate names: NEDD8-activating enzyme E1 catalytic subunit, NEDD8-activating enzyme E1 subunit 2, NEDD8-activating enzyme E1C, Nedd8-activating enzyme hUba3, UBA3, ubiquitin-activating enzyme E1 homolog, ubiquitin-activating enzyme 3, ubiquitin-activating enzyme E1C (UBA3 ho,
• Gene location: 3p14.1 (69080372: 69054729)     Exons: 18     NC_000003.12
• Gene summary(Entrez): The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conju
• OMIM: 603172

Protein Summary

• Protein general information: Q8TBC4  
  • Name: NEDD8 activating enzyme E1 catalytic subunit (EC 6.2.1. ) (NEDD8 activating enzyme E1C) (Ubiquitin activating enzyme E1C) (Ubiquitin like modifier activating enzyme 3) (Ubiquitin activating enzyme 3)
  • Length: 463  
  • Mass: 51852
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MADGEEPEKKRRRIEELLAEKMAVDGGCGDTGDWEGRWNHVKKFLERSGPFTHPDFEPSTESLQFLLDTCKVLVI
  GAGGLGCELLKNLALSGFRQIHVIDMDTIDVSNLNRQFLFRPKDIGRPKAEVAAEFLNDRVPNCNVVPHFNKIQD
  FNDTFYRQFHIIVCGLDSIIARRWINGMLISLLNYEDGVLDPSSIVPLIDGGTEGFKGNARVILPGMTACIECTL
  ELYPPQVNFPMCTIASMPRLPEHCIEYVRMLQWPKEQPFGEGVPLDGDDPEHIQWIFQKSLERASQYNIRGVTYR
  LTQGVVKRIIPAVASTNAVIAAVCATEVFKIATSAYIPLNNYLVFNDVDGLYTYTFEAERKENCPACSQLPQNIQ
  FSPSAKLQEVLDYLTNSASLQMKSPAITATLEGKNRTLYLQSVTSIEERTRPNLSKTLKELGLVDGQELAVADVT
  TPQTVLFKLHFTS

• Structural information:
  • Interpro: IPR014929  IPR000594  IPR023318  IPR030468  IPR035985   IPR033127  
  • Prosite: PS00865
  • PDB: 1R4M 1R4N 1TT5 1Y8X 1YOV 2LQ7 2NVU 3DBH 3DBL 3DBR 3FN1 3GZN 5JJM
  • PDBsum: 1R4M 1R4N 1TT5 1Y8X 1YOV 2LQ7 2NVU 3DBH 3DBL 3DBR 3FN1 3GZN 5JJM
  • STRING: ENSP00000354340
• Other Databases: GeneCards:  UBA3  Malacards:  UBA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0019781	NEDD8 activating enzyme activity	IBA	molecular function
GO:0019781	NEDD8 activating enzyme activity	IBA	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:0045116	protein neddylation	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008641	ubiquitin-like modifier activating enzyme activity	IEA	molecular function
GO:0045116	protein neddylation	IEA	biological process
GO:0019781	NEDD8 activating enzyme activity	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0006464	cellular protein modification process	TAS	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0019781	NEDD8 activating enzyme activity	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019788	NEDD8 transferase activity	TAS	molecular function
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0007113	endomitotic cell cycle	IEA	biological process
GO:0000278	mitotic cell cycle	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0019781	NEDD8 activating enzyme activity	IEA	molecular function
GO:0016922	nuclear receptor binding	IEA	molecular function
GO:0019781	NEDD8 activating enzyme activity	IEA	molecular function
GO:0045116	protein neddylation	IEA	biological process
GO:0019781	NEDD8 activating enzyme activity	IDA	contributes to
GO:0045116	protein neddylation	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881