• Gene id: 219333

Gene Summary

• Gene Symbol: USP12   Gene   UCSC   Ensembl
• Aliases: UBH1, USP12L1
• Gene name: ubiquitin specific peptidase 12
• Alternate names: ubiquitin carboxyl-terminal hydrolase 12, deubiquitinating enzyme 12, ubiquitin specific protease 12 like 1, ubiquitin thioesterase 12, ubiquitin thiolesterase 12, ubiquitin-hydrolyzing enzyme 1, ubiquitin-specific-processing protease 12,
• Gene location: 13q12.13 (27171810: 27066153)     Exons: 10     NC_000013.11
• OMIM: 603091

Protein Summary

• Protein general information: O75317  
  • Name: Ubiquitin carboxyl terminal hydrolase 12 (EC 3.4.19.12) (Deubiquitinating enzyme 12) (Ubiquitin thioesterase 12) (Ubiquitin hydrolyzing enzyme 1) (Ubiquitin specific processing protease 12)
  • Length: 370  
  • Mass: 42858
• Sequence:

  MEILMTVSKFASICTMGANASALEKEIGPEQFPVNEHYFGLVNFGNTCYCNSVLQALYFCRPFREKVLAYKSQPR
  KKESLLTCLADLFHSIATQKKKVGVIPPKKFITRLRKENELFDNYMQQDAHEFLNYLLNTIADILQEERKQEKQN
  GRLPNGNIDNENNNSTPDPTWVHEIFQGTLTNETRCLTCETISSKDEDFLDLSVDVEQNTSITHCLRGFSNTETL
  CSEYKYYCEECRSKQEAHKRMKVKKLPMILALHLKRFKYMDQLHRYTKLSYRVVFPLELRLFNTSGDATNPDRMY
  DLVAVVVHCGSGPNRGHYIAIVKSHDFWLLFDDDIVEKIDAQAIEEFYGLTSDISKNSESGYILFYQSRD

• Structural information:
  • Protein Domains: (39..36-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR018200  IPR028889  
  • Prosite: PS00972 PS00973 PS50235
  • PDB: 5K16 5K1A 5K1B 5K1C 5L8W
  • PDBsum: 5K16 5K1A 5K1B 5K1C 5L8W
  • STRING: ENSP00000282344
• Other Databases: GeneCards:  USP12  Malacards:  USP12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016579	protein deubiquitination	IBA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0016579	protein deubiquitination	IDA	biological process
GO:0016579	protein deubiquitination	IDA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IDA	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:0004197	cysteine-type endopeptidase activity	IMP	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
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:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0101005	ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016579	protein deubiquitination	IEA	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq