Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
85015
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin specific peptidase 45
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
USP45
Synonyms (NCBI Gene) Gene synonyms aliases
LCA19
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LCA19
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q16.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT026646 hsa-miR-192-5p Microarray 19074876
MIRT028362 hsa-miR-32-5p Sequencing 20371350
MIRT051365 hsa-let-7f-5p CLASH 23622248
MIRT569069 hsa-miR-3662 PAR-CLIP 20371350
MIRT569068 hsa-miR-6873-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001917 Component Photoreceptor inner segment IDA 30573563
GO:0003407 Process Neural retina development ISS
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IDA 14715245
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IMP 25538220, 30258100
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618439 20080 ENSG00000123552
Protein
UniProt ID Q70EL2
Protein name Ubiquitin carboxyl-terminal hydrolase 45 (EC 3.4.19.12) (Deubiquitinating enzyme 45) (Ubiquitin thioesterase 45) (Ubiquitin-specific-processing protease 45)
Protein function Catalyzes the deubiquitination of SPDL1 (PubMed:30258100). Plays a role in the repair of UV-induced DNA damage via deubiquitination of ERCC1, promoting its recruitment to DNA damage sites (PubMed:25538220). May be involved in the maintenance of
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02148 zf-UBP 61 139 Zn-finger in ubiquitin-hydrolases and other protein Domain
PF00443 UCH 190 810 Ubiquitin carboxyl-terminal hydrolase Family
Tissue specificity 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:3
Sequence
MRVKDPTKALPEKAKRSKRPTVPHDEDSSDDIAVGLTCQHVSHAISVNHVKRAIAENLWS
VCSECLKERRFYDGQLVLTSDIWLCLKCGFQGCGKNSESQHSLKHFKSSRTEPHCIIINL
STWIIWCYECDEKLSTHCN
KKVLAQIVDFLQKHASKTQTSAFSRIMKLCEEKCETDEIQK
GGKCRNLSVRGITNLGNTCFFNAVMQNLAQTYTLTDLMNEIKESSTKLKIFPSSDSQLDP
LVVELSRPGPLTSALFLFLHSMKETEKGPLSPKVLFNQLCQKAPRFKDFQQQDSQELLHY
LLDAVRTEETKRIQASILKAFNNPTTKTADDETRKKVKAYGKEGVKMNFIDRIFIGELTS
TVMCEECANISTVKDPFIDISLPIIEERVSKPLLWGRMNKYRSLRETDHDRYSGNVTIEN
IHQPRAAKKHSSSKDKSQLIHDRKCIRKLSSGETVTYQKNENLEMNGDSLMFASLMNSES
RLNESPTDDSEKEASHSESNVDADSEPSESESASKQTGLFRSSSGSGVQPDGPLYPLSAG
KLLYTKETDSGDKEMAEAISELRLSSTVTGDQDFDRENQPLNISNNLCFLEGKHLRSYSP
QNAFQTLSQSYITTSKECSIQSCLYQFTSMELLMGNNKLLCENCTKNKQKYQEETSFAEK
KVEGVYTNARKQLLISAVPAVLILHLKRFHQAGLSLRKVNRHVDFPLMLDLAPFCSATCK
NASVGDKVLYGLYGIVEHSGSMREGHYTAYVKVRTPSRKLSEHNTKKKNVPGLKAADNES
AGQWVHVSDTYLQVVPESRALSAQAYLLFY
ERVL
Sequence length 814
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Polycomb repressive complex   Formation of Incision Complex in GG-NER
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Keratoconus Keratoconus rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019
Leber congenital amaurosis Leber Congenital Amaurosis, Leber congenital amaurosis rs386834252, rs386834253, rs121918165, rs62635288, rs281865192, rs137852833, rs137852834, rs137852835, rs2137919146, rs267606719, rs80044281, rs386834241, rs75895925, rs386834243, rs750962965
View all (532 more)
30573563
Unknown
Disease term Disease name Evidence References Source
Leber Congenital Amaurosis leber congenital amaurosis 19, Leber congenital amaurosis GenCC
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Growth Disorders Associate 30809043
Multiple Myeloma Associate 29389935