• Gene id: 25862

Gene Summary

• Gene Symbol: USP49   Gene   UCSC   Ensembl
• Gene name: ubiquitin specific peptidase 49
• Alternate names: ubiquitin carboxyl-terminal hydrolase 49, deubiquitinating enzyme 49, ubiquitin specific protease 49, ubiquitin thioesterase 49, ubiquitin thiolesterase 49, ubiquitin-specific-processing protease 49,
• Gene location: 6p21.1 (41895374: 41789895)     Exons: 8     NC_000006.12
• OMIM: 601480

Protein Summary

• Protein general information: Q70CQ1  
  • Name: Ubiquitin carboxyl terminal hydrolase 49 (EC 3.4.19.12) (Deubiquitinating enzyme 49) (Ubiquitin thioesterase 49) (Ubiquitin specific processing protease 49)
  • Length: 688  
  • Mass: 79198
• Sequence:

  MDRCKHVGRLRLAQDHSILNPQKWCCLECATTESVWACLKCSHVACGRYIEDHALKHFEETGHPLAMEVRDLYVF
  CYLCKDYVLNDNPEGDLKLLRSSLLAVRGQKQDTPVRRGRTLRSMASGEDVVLPQRAPQGQPQMLTALWYRRQRL
  LARTLRLWFEKSSRGQAKLEQRRQEEALERKKEEARRRRREVKRRLLEELASTPPRKSARLLLHTPRDAGPAASR
  PAALPTSRRVPAATLKLRRQPAMAPGVTGLRNLGNTCYMNSILQVLSHLQKFRECFLNLDPSKTEHLFPKATNGK
  TQLSGKPTNSSATELSLRNDRAEACEREGFCWNGRASISRSLELIQNKEPSSKHISLCRELHTLFRVMWSGKWAL
  VSPFAMLHSVWSLIPAFRGYDQQDAQEFLCELLHKVQQELESEGTTRRILIPFSQRKLTKQVLKVVNTIFHGQLL
  SQVTCISCNYKSNTIEPFWDLSLEFPERYHCIEKGFVPLNQTECLLTEMLAKFTETEALEGRIYACDQCNSKRRK
  SNPKPLVLSEARKQLMIYRLPQVLRLHLKRFRWSGRNHREKIGVHVVFDQVLTMEPYCCRDMLSSLDKETFAYDL
  SAVVMHHGKGFGSGHYTAYCYNTEGGFWVHCNDSKLNVCSVEEVCKTQAYILFYTQRTVQGNARISETHLQAQVQ
  SSNNDEGRPQTFS

• Structural information:
  • Protein Domains: (253..65-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR018200  IPR028889  IPR013083   IPR001607  
  • Prosite: PS00972 PS00973 PS50235 PS50271
  • STRING: ENSP00000377797
• Other Databases: GeneCards:  USP49  Malacards:  USP49

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042393	histone binding	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0035616	histone H2B conserved C-terminal lysine deubiquitination	IDA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IDA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IMP	biological process
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: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:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq