• Gene id: 55432

Gene Summary

• Gene Symbol: YOD1   Gene   UCSC   Ensembl
• Aliases: DUBA8, OTUD2, PRO0907
• Gene name: YOD1 deubiquitinase
• Alternate names: ubiquitin thioesterase OTU1, DUBA-8, HIN-7, HIV-1-induced protease 7, OTU domain containing 2, OTU domain-containing protein 2, YOD1 OTU deubiquinating enzyme 1 homolog ( yeast), hsHIN7,
• Gene location: 1q32.1 (207052979: 207043848)     Exons: 4     NC_000001.11
• Gene summary(Entrez): Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and remov
• OMIM: 618739

Protein Summary

• Protein general information: Q5VVQ6  
  • Name: Ubiquitin thioesterase OTU1 (EC 3.4.19.12) (DUBA 8) (HIV 1 induced protease 7) (HIN 7) (HsHIN7) (OTU domain containing protein 2)
  • Length: 348  
  • Mass: 38322
• Sequence:

  MFGPAKGRHFGVHPAPGFPGGVSQQAAGTKAGPAGAWPVGSRTDTMWRLRCKAKDGTHVLQGLSSRTRVRELQGQ
  IAAITGIAPGGQRILVGYPPECLDLSNGDTILEDLPIQSGDMLIIEEDQTRPRSSPAFTKRGASSYVRETLPVLT
  RTVVPADNSCLFTSVYYVVEGGVLNPACAPEMRRLIAQIVASDPDFYSEAILGKTNQEYCDWIKRDDTWGGAIEI
  SILSKFYQCEICVVDTQTVRIDRFGEDAGYTKRVLLIYDGIHYDPLQRNFPDPDTPPLTIFSSNDDIVLVQALEL
  ADEARRRRQFTDVNRFTLRCMVCQKGLTGQAEAREHAKETGHTNFGEV

• Structural information:
  • Protein Domains: (149..27-)
    (/note="OTU-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00139"-)
  • Interpro: IPR039138  IPR003323  IPR038765  IPR029071  IPR013087  
  • Prosite: PS50802 PS00028
  • PDB: 4BOQ 4BOS 4BOZ
  • PDBsum: 4BOQ 4BOS 4BOZ
  • STRING: ENSP00000326813
• Other Databases: GeneCards:  YOD1  Malacards:  YOD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990380	Lys48-specific deubiquitinase activity	IDA	molecular function
GO:0101005	ubiquitinyl hydrolase activity	TAS	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:1904153	negative regulation of retrograde protein transport, ER to cytosol	IMP	biological process
GO:0035871	protein K11-linked deubiquitination	IMP	biological process
GO:0070536	protein K63-linked deubiquitination	IMP	biological process
GO:0061578	Lys63-specific deubiquitinase activity	TAS	molecular function
GO:0071108	protein K48-linked deubiquitination	IDA	biological process
GO:0071108	protein K48-linked deubiquitination	IMP	biological process
GO:0030968	endoplasmic reticulum unfolded protein response	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0016579	protein deubiquitination	IBA	biological process
GO:1990167	protein K27-linked deubiquitination	IDA	biological process
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0035871	protein K11-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:1990168	protein K33-linked deubiquitination	IDA	biological process
GO:0071108	protein K48-linked deubiquitination	IDA	biological process
GO:0071108	protein K48-linked deubiquitination	IDA	biological process
GO:0035523	protein K29-linked deubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0030968	endoplasmic reticulum unfolded protein response	IMP	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071108	protein K48-linked deubiquitination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016236	macroautophagy	IMP	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0101005	ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016579	protein deubiquitination	IEA	biological process
GO:0030433	ubiquitin-dependent ERAD pathway	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006986	response to unfolded protein	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
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: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: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:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
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)