• Gene id: 84101

Gene Summary

• Gene Symbol: USP44   Gene   UCSC   Ensembl
• Gene name: ubiquitin specific peptidase 44
• Alternate names: ubiquitin carboxyl-terminal hydrolase 44, deubiquitinating enzyme 44, ubiquitin specific protease 44, ubiquitin thioesterase 44, ubiquitin thiolesterase 44, ubiquitin-specific-processing protease 44,
• Gene location: 12q22 (95551528: 95516559)     Exons: 8     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20
• OMIM: 610993

Protein Summary

• Protein general information: Q9H0E7  
  • Name: Ubiquitin carboxyl terminal hydrolase 44 (EC 3.4.19.12) (Deubiquitinating enzyme 44) (Ubiquitin thioesterase 44) (Ubiquitin specific processing protease 44)
  • Length: 712  
  • Mass: 81185
  • Tissue specificity: Expressed in testis. Expressed at high levels in T-cell acute lymphoblastic leukemia. {ECO
• Sequence:

  MLAMDTCKHVGQLQLAQDHSSLNPQKWHCVDCNTTESIWACLSCSHVACGRYIEEHALKHFQESSHPVALEVNEM
  YVFCYLCDDYVLNDNTTGDLKLLRRTLSAIKSQNYHCTTRSGRFLRSMGTGDDSYFLHDGAQSLLQSEDQLYTAL
  WHRRRILMGKIFRTWFEQSPIGRKKQEEPFQEKIVVKREVKKRRQELEYQVKAELESMPPRKSLRLQGLAQSTII
  EIVSVQVPAQTPASPAKDKVLSTSENEISQKVSDSSVKRRPIVTPGVTGLRNLGNTCYMNSVLQVLSHLLIFRQC
  FLKLDLNQWLAMTASEKTRSCKHPPVTDTVVYQMNECQEKDTGFVCSRQSSLSSGLSGGASKGRKMELIQPKEPT
  SQYISLCHELHTLFQVMWSGKWALVSPFAMLHSVWRLIPAFRGYAQQDAQEFLCELLDKIQRELETTGTSLPALI
  PTSQRKLIKQVLNVVNNIFHGQLLSQVTCLACDNKSNTIEPFWDLSLEFPERYQCSGKDIASQPCLVTEMLAKFT
  ETEALEGKIYVCDQCNSKRRRFSSKPVVLTEAQKQLMICHLPQVLRLHLKRFRWSGRNNREKIGVHVGFEEILNM
  EPYCCRETLKSLRPECFIYDLSAVVMHHGKGFGSGHYTAYCYNSEGGFWVHCNDSKLSMCTMDEVCKAQAYILFY
  TQRVTENGHSKLLPPELLLGSQHPNEDADTSSNEILS

• Structural information:
  • Protein Domains: (273..67-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR018200  IPR028889  IPR013083   IPR001607  
  • Prosite: PS00972 PS00973 PS50235 PS50271
  • STRING: ENSP00000258499
• Other Databases: GeneCards:  USP44  Malacards:  USP44

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
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:0005634	nucleus	IDA	cellular component
GO:1904667	negative regulation of ubiquitin protein ligase activity	IMP	biological process
GO:0090266	regulation of mitotic cell cycle spindle assembly checkpoint	ISS	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IMP	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IMP	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0016579	protein deubiquitination	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0016579	protein deubiquitination	IDA	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:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007059	chromosome segregation	IEA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0090266	regulation of mitotic cell cycle spindle assembly checkpoint	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)