• Gene id: 10277

Gene Summary

• Gene Symbol: UBE4B   Gene   UCSC   Ensembl
• Aliases: E4, HDNB1, UBOX3, UFD2, UFD2A
• Gene name: ubiquitination factor E4B
• Alternate names: ubiquitin conjugation factor E4 B, RING-type E3 ubiquitin transferase E4 B, UFD2A-III/UBE4B-III splice isoform, homologous to yeast UFD2, homozygously deleted in neuroblastoma-1, ubiquitin-fusion degradation protein 2, ubiquitination factor E4B (UFD2 homolog, y,
• Gene location: 1p36.22 (10032957: 10181238)     Exons: 31     NC_000001.11
• 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: 602824

Protein Summary

• Protein general information: O95155  
  • Name: Ubiquitin conjugation factor E4 B (EC 2.3.2.27) (Homozygously deleted in neuroblastoma 1) (RING type E3 ubiquitin transferase E4 B) (Ubiquitin fusion degradation protein 2)
  • Length: 1302  
  • Mass: 146185
  • Tissue specificity: Expressed in differentiated myotubes (at protein level) (PubMed
• Sequence:

  MEELSADEIRRRRLARLAGGQTSQPTTPLTSPQRENPPGPPIAASAPGPSQSLGLNVHNMTPATSPIGASGVAHR
  SQSSEGVSSLSSSPSNSLETQSQSLSRSQSMDIDGVSCEKSMSQVDVDSGIENMEVDENDRREKRSLSDKEPSSG
  PEVSEEQALQLVCKIFRVSWKDRDRDVIFLSSLSAQFKQNPKEVFSDFKDLIGQILMEVLMMSTQTRDENPFASL
  TATSQPIAAAARSPDRNLLLNTGSNPGTSPMFCSVASFGASSLSSLYESSPAPTPSFWSSVPVMGPSLASPSRAA
  SQLAVPSTPLSPHSAASGTAAGSQPSSPRYRPYTVTHPWASSGVSILSSSPSPPALASSPQAVPASSSRQRPSST
  GPPLPPASPSATSRRPSSLRISPSLGASGGASNWDSYSDHFTIETCKETDMLNYLIECFDRVGIEEKKAPKMCSQ
  PAVSQLLSNIRSQCISHTALVLQGSLTQPRSLQQPSFLVPYMLCRNLPYGFIQELVRTTHQDEEVFKQIFIPILQ
  GLALAAKECSLDSDYFKYPLMALGELCETKFGKTHPVCNLVASLRLWLPKSLSPGCGRELQRLSYLGAFFSFSVF
  AEDDVKVVEKYFSGPAITLENTRVVSQSLQHYLELGRQELFKILHSILLNGETREAALSYMAAVVNANMKKAQMQ
  TDDRLVSTDGFMLNFLWVLQQLSTKIKLETVDPTYIFHPRCRITLPNDETRVNATMEDVNDWLTELYGDQPPFSE
  PKFPTECFFLTLHAHHLSILPSCRRYIRRLRAIRELNRTVEDLKNNESQWKDSPLATRHREMLKRCKTQLKKLVR
  CKACADAGLLDESFLRRCLNFYGLLIQLLLRILDPAYPDITLPLNSDVPKVFAALPEFYVEDVAEFLFFIVQYSP
  QALYEPCTQDIVMFLVVMLCNQNYIRNPYLVAKLVEVMFMTNPAVQPRTQKFFEMIENHPLSTKLLVPSLMKFYT
  DVEHTGATSEFYDKFTIRYHISTIFKSLWQNIAHHGTFMEEFNSGKQFVRYINMLINDTTFLLDESLESLKRIHE
  VQEEMKNKEQWDQLPRDQQQARQSQLAQDERVSRSYLALATETVDMFHILTKQVQKPFLRPELGPRLAAMLNFNL
  QQLCGPKCRDLKVENPEKYGFEPKKLLDQLTDIYLQLDCARFAKAIADDQRSYSKELFEEVISKMRKAGIKSTIA
  IEKFKLLAEKVEEIVAKNARAEIDYSDAPDEFRDPLMDTLMTDPVRLPSGTIMDRSIILRHLLNSPTDPFNRQTL
  TESMLEPVPELKEQIQAWMREKQNSDH

• Structural information:
  • Protein Domains: (1227..130-)
    (/note="U-box"-)
  • Interpro: IPR019474  IPR003613  IPR013083  
  • Prosite: PS51698
  • PDB: 2KRE 3L1X 3L1Z 5O75
  • PDBsum: 2KRE 3L1X 3L1Z 5O75
  • DIP: 40309
  • STRING: ENSP00000343001
• Other Databases: GeneCards:  UBE4B  Malacards:  UBE4B

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:0005634	nucleus	IEA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0044257	cellular protein catabolic process	IEA	biological process
GO:0034450	ubiquitin-ubiquitin ligase activity	IEA	molecular function
GO:0031175	neuron projection development	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IEA	biological process
GO:0051117	ATPase binding	IEA	molecular function
GO:0051865	protein autoubiquitination	IEA	biological process
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0006513	protein monoubiquitination	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000209	protein polyubiquitination	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0008626	granzyme-mediated apoptotic signaling pathway	IDA	biological process
GO:0009411	response to UV	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0000151	ubiquitin ligase complex	TAS	cellular component
GO:0019899	enzyme binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
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:0005634	nucleus	IEA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0044257	cellular protein catabolic process	IEA	biological process
GO:0034450	ubiquitin-ubiquitin ligase activity	IEA	molecular function
GO:0031175	neuron projection development	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IEA	biological process
GO:0051117	ATPase binding	IEA	molecular function
GO:0051865	protein autoubiquitination	IEA	biological process
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0006513	protein monoubiquitination	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000209	protein polyubiquitination	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0008626	granzyme-mediated apoptotic signaling pathway	IDA	biological process
GO:0009411	response to UV	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0000151	ubiquitin ligase complex	TAS	cellular component
GO:0019899	enzyme binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq