• Gene id: 55031

Gene Summary

• Gene Symbol: USP47   Gene   UCSC   Ensembl
• Aliases: TRFP
• Gene name: ubiquitin specific peptidase 47
• Alternate names: ubiquitin carboxyl-terminal hydrolase 47, Trf (TATA binding protein-related factor)-proximal homolog, deubiquitinating enzyme 47, ubiquitin thioesterase 47, ubiquitin thiolesterase 47, ubiquitin-specific-processing protease 47,
• Gene location: 11p15.3 (11841971: 11961886)     Exons: 31     NC_000011.10
• OMIM: 614460

Protein Summary

• Protein general information: Q96K76  
  • Name: Ubiquitin carboxyl terminal hydrolase 47 (EC 3.4.19.12) (Deubiquitinating enzyme 47) (Ubiquitin thioesterase 47) (Ubiquitin specific processing protease 47)
  • Length: 1375  
  • Mass: 157311
  • Tissue specificity: Expressed in skeletal muscle, heart and testis. {ECO
• Sequence:

  MVPGEENQLVPKEDVFWRCRQNIFDEMKKKFLQIENAAEEPRVLCIIQDTTNSKTVNERITLNLPASTPVRKLFE
  DVANKVGYINGTFDLVWGNGINTADMAPLDHTSDKSLLDANFEPGKKNFLHLTDKDGEQPQILLEDSSAGEDSVH
  DRFIGPLPREGSGGSTSDYVSQSYSYSSILNKSETGYVGLVNQAMTCYLNSLLQTLFMTPEFRNALYKWEFEESE
  EDPVTSIPYQLQRLFVLLQTSKKRAIETTDVTRSFGWDSSEAWQQHDVQELCRVMFDALEQKWKQTEQADLINEL
  YQGKLKDYVRCLECGYEGWRIDTYLDIPLVIRPYGSSQAFASVEEALHAFIQPEILDGPNQYFCERCKKKCDARK
  GLRFLHFPYLLTLQLKRFDFDYTTMHRIKLNDRMTFPEELDMSTFIDVEDEKSPQTESCTDSGAENEGSCHSDQM
  SNDFSNDDGVDEGICLETNSGTEKISKSGLEKNSLIYELFSVMVHSGSAAGGHYYACIKSFSDEQWYSFNDQHVS
  RITQEDIKKTHGGSSGSRGYYSSAFASSTNAYMLIYRLKDPARNAKFLEVDEYPEHIKNLVQKERELEEQEKRQR
  EIERNTCKIKLFCLHPTKQVMMENKLEVHKDKTLKEAVEMAYKMMDLEEVIPLDCCRLVKYDEFHDYLERSYEGE
  EDTPMGLLLGGVKSTYMFDLLLETRKPDQVFQSYKPGEVMVKVHVVDLKAESVAAPITVRAYLNQTVTEFKQLIS
  KAIHLPAETMRIVLERCYNDLRLLSVSSKTLKAEGFFRSNKVFVESSETLDYQMAFADSHLWKLLDRHANTIRLF
  VLLPEQSPVSYSKRTAYQKAGGDSGNVDDDCERVKGPVGSLKSVEAILEESTEKLKSLSLQQQQDGDNGDSSKST
  ETSDFENIESPLNERDSSASVDNRELEQHIQTSDPENFQSEERSDSDVNNDRSTSSVDSDILSSSHSSDTLCNAD
  NAQIPLANGLDSHSITSSRRTKANEGKKETWDTAEEDSGTDSEYDESGKSRGEMQYMYFKAEPYAADEGSGEGHK
  WLMVHVDKRITLAAFKQHLEPFVGVLSSHFKVFRVYASNQEFESVRLNETLSSFSDDNKITIRLGRALKKGEYRV
  KVYQLLVNEQEPCKFLLDAVFAKGMTVRQSKEELIPQLREQCGLELSIDRFRLRKKTWKNPGTVFLDYHIYEEDI
  NISSNWEVFLEVLDGVEKMKSMSQLAVLSRRWKPSEMKLDPFQEVVLESSSVDELREKLSEISGIPLDDIEFAKG
  RGTFPCDISVLDIHQDLDWNPKVSTLNVWPLYICDDGAVIFYRDKTEELMELTDEQRNELMKKESSRLQKTGHRV
  TYSPRKEKALKIYLDGAPNKDLTQD

• Structural information:
  • Protein Domains: (188..56-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR029071  IPR018200  IPR028889  
  • Prosite: PS00972 PS00973 PS50235
  • DIP: 53629
  • STRING: ENSP00000433146
• Other Databases: GeneCards:  USP47  Malacards:  USP47

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016579	protein deubiquitination	IBA	biological process
GO:0035520	monoubiquitinated protein deubiquitination	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0006284	base-excision repair	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	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:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0101005	ubiquitinyl hydrolase activity	IDA	molecular function
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1902230	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0034644	cellular response to UV	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0019005	SCF ubiquitin ligase complex	IDA	cellular component
GO:0010972	negative regulation of G2/M transition of mitotic cell cycle	IMP	biological process
GO:0071987	WD40-repeat domain binding	IPI	molecular function
GO:0071987	WD40-repeat domain binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0042493	response to drug	IMP	biological process
GO:0034644	cellular response to UV	ISS	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)