• Gene id: 85015

Gene Summary

• Gene Symbol: USP45   Gene   UCSC   Ensembl
• Aliases: LCA19
• Gene name: ubiquitin specific peptidase 45
• Alternate names: ubiquitin carboxyl-terminal hydrolase 45, deubiquitinating enzyme 45, ubiquitin specific protease 45, ubiquitin thioesterase 45, ubiquitin thiolesterase 45, ubiquitin-specific-processing protease 45,
• Gene location: 6q16.2 (99515769: 99432305)     Exons: 25     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protei
• OMIM: 618439

Protein Summary

• Protein general information: Q70EL2  
  • Name: Ubiquitin carboxyl terminal hydrolase 45 (EC 3.4.19.12) (Deubiquitinating enzyme 45) (Ubiquitin thioesterase 45) (Ubiquitin specific processing protease 45)
  • Length: 814  
  • Mass: 91733
  • Tissue specificity: Widely expressed. High expression is detected in the cerebellum. In the eye, it is expressed at high levels in the optic nerve, sclera and retina, with relatively low levels in the choroid, lens and retinal pigment epithelium (PubMed
• Sequence:

  MRVKDPTKALPEKAKRSKRPTVPHDEDSSDDIAVGLTCQHVSHAISVNHVKRAIAENLWSVCSECLKERRFYDGQ
  LVLTSDIWLCLKCGFQGCGKNSESQHSLKHFKSSRTEPHCIIINLSTWIIWCYECDEKLSTHCNKKVLAQIVDFL
  QKHASKTQTSAFSRIMKLCEEKCETDEIQKGGKCRNLSVRGITNLGNTCFFNAVMQNLAQTYTLTDLMNEIKESS
  TKLKIFPSSDSQLDPLVVELSRPGPLTSALFLFLHSMKETEKGPLSPKVLFNQLCQKAPRFKDFQQQDSQELLHY
  LLDAVRTEETKRIQASILKAFNNPTTKTADDETRKKVKAYGKEGVKMNFIDRIFIGELTSTVMCEECANISTVKD
  PFIDISLPIIEERVSKPLLWGRMNKYRSLRETDHDRYSGNVTIENIHQPRAAKKHSSSKDKSQLIHDRKCIRKLS
  SGETVTYQKNENLEMNGDSLMFASLMNSESRLNESPTDDSEKEASHSESNVDADSEPSESESASKQTGLFRSSSG
  SGVQPDGPLYPLSAGKLLYTKETDSGDKEMAEAISELRLSSTVTGDQDFDRENQPLNISNNLCFLEGKHLRSYSP
  QNAFQTLSQSYITTSKECSIQSCLYQFTSMELLMGNNKLLCENCTKNKQKYQEETSFAEKKVEGVYTNARKQLLI
  SAVPAVLILHLKRFHQAGLSLRKVNRHVDFPLMLDLAPFCSATCKNASVGDKVLYGLYGIVEHSGSMREGHYTAY
  VKVRTPSRKLSEHNTKKKNVPGLKAADNESAGQWVHVSDTYLQVVPESRALSAQAYLLFYERVL

• Structural information:
  • Protein Domains: (190..81-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR018200  IPR028889  IPR013083   IPR001607  
  • Prosite: PS00972 PS00973 PS50235 PS50271
  • STRING: ENSP00000333376
• Other Databases: GeneCards:  USP45  Malacards:  USP45

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001917	photoreceptor inner segment	IDA	cellular component
GO:0045494	photoreceptor cell maintenance	ISS	biological process
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:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006281	DNA repair	IMP	biological process
GO:0016579	protein deubiquitination	IMP	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0016579	protein deubiquitination	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component

Diseases

Associated diseases	References
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)