• Gene id: 84196

Gene Summary

• Gene Symbol: USP48   Gene   UCSC   Ensembl
• Aliases: RAP1GA1, USP31
• Gene name: ubiquitin specific peptidase 48
• Alternate names: ubiquitin carboxyl-terminal hydrolase 48, deubiquitinating enzyme 48, ubiquitin specific protease 31, ubiquitin thioesterase 48, ubiquitin thiolesterase 48, ubiquitin-specific-processing protease 48,
• Gene location: 1p36.12 (21784145: 21678297)     Exons: 30     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide
• OMIM: 617445

Protein Summary

• Protein general information: Q86UV5  
  • Name: Ubiquitin carboxyl terminal hydrolase 48 (EC 3.4.19.12) (Deubiquitinating enzyme 48) (Ubiquitin thioesterase 48) (Ubiquitin specific peptidase 48) (Ubiquitin specific protease 48) (Ubiquitin specific processing protease 48)
  • Length: 1035  
  • Mass: 119032
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAPRLQLEKAAWRWAETVRPEEVSQEHIETAYRIWLEPCIRGVCRRNCKGNPNCLVGIGEHIWLGEIDENSFHNI
  DDPNCERRKKNSFVGLTNLGATCYVNTFLQVWFLNLELRQALYLCPSTCSDYMLGDGIQEEKDYEPQTICEHLQY
  LFALLQNSNRRYIDPSGFVKALGLDTGQQQDAQEFSKLFMSLLEDTLSKQKNPDVRNIVQQQFCGEYAYVTVCNQ
  CGRESKLLSKFYELELNIQGHKQLTDCISEFLKEEKLEGDNRYFCENCQSKQNATRKIRLLSLPCTLNLQLMRFV
  FDRQTGHKKKLNTYIGFSEILDMEPYVEHKGGSYVYELSAVLIHRGVSAYSGHYIAHVKDPQSGEWYKFNDEDIE
  KMEGKKLQLGIEEDLAEPSKSQTRKPKCGKGTHCSRNAYMLVYRLQTQEKPNTTVQVPAFLQELVDRDNSKFEEW
  CIEMAEMRKQSVDKGKAKHEEVKELYQRLPAGAEPYEFVSLEWLQKWLDESTPTKPIDNHACLCSHDKLHPDKIS
  IMKRISEYAADIFYSRYGGGPRLTVKALCKECVVERCRILRLKNQLNEDYKTVNNLLKAAVKGSDGFWVGKSSLR
  SWRQLALEQLDEQDGDAEQSNGKMNGSTLNKDESKEERKEEEELNFNEDILCPHGELCISENERRLVSKEAWSKL
  QQYFPKAPEFPSYKECCSQCKILEREGEENEALHKMIANEQKTSLPNLFQDKNRPCLSNWPEDTDVLYIVSQFFV
  EEWRKFVRKPTRCSPVSSVGNSALLCPHGGLMFTFASMTKEDSKLIALIWPSEWQMIQKLFVVDHVIKITRIEVG
  DVNPSETQYISEPKLCPECREGLLCQQQRDLREYTQATIYVHKVVDNKKVMKDSAPELNVSSSETEEDKEEAKPD
  GEKDPDFNQSNGGTKRQKISHQNYIAYQKQVIRRSMRHRKVRGEKALLVSANQTLKELKIQIMHAFSVAPFDQNL
  SIDGKILSDDCATLGTLGVIPESVILLKADEPIADYAAMDDVMQVCMPEEGFKGTGLLGH

• Structural information:
  • Protein Domains: (89..42-)
    (/note="USP-)
    (460..55-)
    (/note="DUSP-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00613-)
    (569..69-)
    (/note="DUSP-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00613-)
    (711..82-)
    (/note="DUSP-3)
    (/evidence="ECO:00002-)
  • Interpro: IPR035927  IPR038765  IPR006615  IPR001394  IPR000626   IPR029071  IPR033841  IPR018200  IPR028889  
  • Prosite: PS51283 PS50053 PS00973 PS50235
  • CDD: cd02668
  • STRING: ENSP00000309262
• Other Databases: GeneCards:  USP48  Malacards:  USP48

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0016579	protein deubiquitination	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	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:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881