• Gene id: 55593

Gene Summary

• Gene Symbol: OTUD5   Gene   UCSC   Ensembl
• Aliases: DUBA
• Gene name: OTU deubiquitinase 5
• Alternate names: OTU domain-containing protein 5, OTU domain containing 5, deubiquinating enzyme A, deubiquitinating enzyme A,
• Gene location: Xp11.23 (48960782: 48922023)     Exons: 13     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response
• OMIM: 606650

Protein Summary

• Protein general information: Q96G74  
  • Name: OTU domain containing protein 5 (EC 3.4.19.12) (Deubiquitinating enzyme A) (DUBA)
  • Length: 571  
  • Mass: 60626
  • Tissue specificity: Expressed in various tissues, including the liver and placenta, as well as in peripheral blood leukocytes. {ECO
• Sequence:

  MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPP
  GALHRWALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSK
  RRRQAPGVGAVGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQEHWFEKALRDKKGFIIKQMKEDGACL
  FRAVADQVYGDQDMHEVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQ
  YSTGTSAVEPINTFHGIHQNEDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEES
  WIEQQMLEDKKRATDWEATNEAIEEQVARESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTS
  RSPRQRSSASSPEHPELHAELGMKPPSPGTVLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQ
  MSPSAFGLNDWDDDEILASVLAVSQQEYLDSMKKNKVHRDPPPDKS

• Structural information:
  • Protein Domains: (213..34-)
    (/note="OTU-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00139"-)
  • Interpro: IPR031084  IPR003323  IPR038765  
  • Prosite: PS50802
  • PDB: 3PFY 3TMO 3TMP
  • PDBsum: 3PFY 3TMO 3TMP
  • DIP: 53541
  • STRING: ENSP00000156084
• Other Databases: GeneCards:  OTUD5  Malacards:  OTUD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0061578	Lys63-specific deubiquitinase activity	IBA	molecular function
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0071108	protein K48-linked deubiquitination	IDA	biological process
GO:0071108	protein K48-linked deubiquitination	IDA	biological process
GO:0032496	response to lipopolysaccharide	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0016579	protein deubiquitination	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0101005	ubiquitinyl hydrolase activity	IDA	molecular function
GO:1990380	Lys48-specific deubiquitinase activity	IDA	molecular function
GO:0061578	Lys63-specific deubiquitinase activity	IDA	molecular function
GO:0016579	protein deubiquitination	IDA	biological process
GO:0061578	Lys63-specific deubiquitinase activity	EXP	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0032480	negative regulation of type I interferon production	TAS	biological process
GO:0005829	cytosol	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04622	RIG-I-like receptor signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray