• Gene id: 9354

Gene Summary

• Gene Symbol: UBE4A   Gene   UCSC   Ensembl
• Aliases: E4, UBOX2, UFD2
• Gene name: ubiquitination factor E4A
• Alternate names: ubiquitin conjugation factor E4 A, RING-type E3 ubiquitin transferase E4 A, ubiquitination factor E4A (UFD2 homolog, yeast),
• Gene location: 11q23.3 (38703144: 38675924)     Exons: 6     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies
• OMIM: 603753

Protein Summary

• Protein general information: Q14139  
  • Name: Ubiquitin conjugation factor E4 A (EC 2.3.2.27) (RING type E3 ubiquitin transferase E4 A)
  • Length: 1066  
  • Mass: 122561
• Sequence:

  MTDQENNNNISSNPFAALFGSLADAKQFAAIQKEQLKQQSDELPASPDDSDNSVSESLDEFDYSVAEISRSFRSQ
  QEICEQLNINHMIQRIFLITLDNSDPSLKSGNGIPSRCVYLEEMAVELEDQDWLDMSNVEQALFARLLLQDPGNH
  LINMTSSTTLNLSADRDAGERHIFCYLYSCFQRAKEEITKVPENLLPFAVQCRNLTVSNTRTVLLTPEIYVDQNI
  HEQLVDLMLEAIQGAHFEDVTEFLEEVIEALILDEEVRTFPEVMIPVFDILLGRIKDLELCQILLYAYLDILLYF
  TRQKDMAKVFVEYIQPKDPTNGQMYQKTLLGVILSISCLLKTPGVVENHGYFLNPSRSSPQEIKVQEANIHQFMA
  QFHEKIYQMLKNLLQLSPETKHCILSWLGNCLHANAGRTKIWANQMPEIFFQMYASDAFFLNLGAALLKLCQPFC
  KPRSSRLLTFNPTYCALKELNDEERKIKNVHMRGLDKETCLIPAVQEPKFPQNYNLVTENLALTEYTLYLGFHRL
  HDQMVKINQNLHRLQVAWRDAQQSSSPAADNLREQFERLMTIYLSTKTAMTEPQMLQNCLNLQVSMAVLLVQLAI
  GNEGSQPIELTFPLPDGYSSLAYVPEFFADNLGDFLIFLRRFADDILETSADSLEHVLHFITIFTGSIERMKNPH
  LRAKLAEVLEAVMPHLDQTPNPLVSSVFHRKRVFCNFQYAPQLAEALIKVFVDIEFTGDPHQFEQKFNYRRPMYP
  ILRYMWGTDTYRESIKDLADYASKNLEAMNPPLFLRFLNLLMNDAIFLLDEAIQYLSKIKIQQIEKDRGEWDSLT
  PEARREKEAGLQMFGQLARFHNIMSNETIGTLAFLTSEIKSLFVHPFLAERIISMLNYFLQHLVGPKMGALKVKD
  FSEFDFKPQQLVSDICTIYLNLGDEENFCATVPKDGRSYSPTLFAQTVRVLKKINKPGNMIMAFSNLAERIKSLA
  DLQQQEEETYADACDEFLDPIMSTLMCDPVVLPSSRVTVDRSTIARHLLSDQTDPFNRSPLTMDQIRPNTELKEK
  IQRWLAERKQQKEQLE

• Structural information:
  • Protein Domains: (987..106-)
    (/note="U-box"-)
  • Interpro: IPR019474  IPR003613  IPR013083  
  • Prosite: PS51698
  • PDB: 1WGM
  • PDBsum: 1WGM
  • STRING: ENSP00000387362
• Other Databases: GeneCards:  UBE4A  Malacards:  UBE4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034450	ubiquitin-ubiquitin ligase activity	IBA	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0000151	ubiquitin ligase complex	IEA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0034450	ubiquitin-ubiquitin ligase activity	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000151	ubiquitin ligase complex	TAS	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

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