• Gene id: 29089

Gene Summary

• Gene Symbol: UBE2T   Gene   UCSC   Ensembl
• Aliases: FANCT, HSPC150, PIG50
• Gene name: ubiquitin conjugating enzyme E2 T
• Alternate names: ubiquitin-conjugating enzyme E2 T, E2 ubiquitin-conjugating enzyme T, HSPC150 protein similar to ubiquitin-conjugating enzyme, cell proliferation-inducing gene 50 protein, ubiquitin carrier protein T, ubiquitin conjugating enzyme E2T, ubiquitin-conjugating enzy,
• Gene location: 1q32.1 (202341965: 202331656)     Exons: 7     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been
• OMIM: 610538

Protein Summary

• Protein general information: Q9NPD8  
  • Name: Ubiquitin conjugating enzyme E2 T (EC 2.3.2.23) (Cell proliferation inducing gene 50 protein) (E2 ubiquitin conjugating enzyme T) (Ubiquitin carrier protein T) (Ubiquitin protein ligase T)
  • Length: 197  
  • Mass: 22521
• Sequence:

  MQRASRLKRELHMLATEPPPGITCWQDKDQMDDLRAQILGGANTPYEKGVFKLEVIIPERYPFEPPQIRFLTPIY
  HPNIDSAGRICLDVLKLPPKGAWRPSLNIATVLTSIQLLMSEPNPDDPLMADISSEFKYNKPAFLKNARQWTEKH
  ARQKQKADEEEMLDNLPEAGDSRVHNSTQKRKASQLVGIEKKFHPDV

• Structural information:
  • Interpro: IPR000608  IPR023313  IPR016135  
  • Prosite: PS00183 PS50127
  • CDD: cd00195
  • PDB: 1YH2 4CCG 5NGZ 5OJJ 6R75
  • PDBsum: 1YH2 4CCG 5NGZ 5OJJ 6R75
  • DIP: 52740
  • STRING: ENSP00000356243
• Other Databases: GeneCards:  UBE2T  Malacards:  UBE2T

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0061631	ubiquitin conjugating enzyme activity	IBA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0051865	protein autoubiquitination	IDA	biological process
GO:0051865	protein autoubiquitination	IDA	biological process
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0006513	protein monoubiquitination	IDA	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0006281	DNA repair	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0061631	ubiquitin conjugating enzyme activity	IEA	molecular function
GO:0061631	ubiquitin conjugating enzyme activity	IDA	molecular function
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0070936	protein K48-linked ubiquitination	IDA	biological process
GO:0070534	protein K63-linked ubiquitination	IDA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0085020	protein K6-linked ubiquitination	IDA	biological process
GO:0070979	protein K11-linked ubiquitination	IDA	biological process
GO:0044314	protein K27-linked ubiquitination	IDA	biological process
GO:0035519	protein K29-linked ubiquitination	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
Fanconi anemia	KEGG:H00238
Fanconi anemia	KEGG:H00238
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray