USP45

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 protein is important for maintaining the DNA repair ability of XPF-ERCC1.

Full Name

ubiquitin specific peptidase 45

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 photoreceptor function (PubMed:30573563).
May play a role in normal retinal development (By similarity).
Plays a role in cell migration (PubMed:30258100).

Biological Process

Biological Process cell migration Source:UniProtKB1 Publication
Biological Process DNA repair Source:MGI1 Publication
Biological Process global genome nucleotide-excision repair Source:Reactome
Biological Process neural retina development Source:UniProtKB
Biological Process photoreceptor cell maintenance Source:UniProtKB
Biological Process protein deubiquitination Source:FlyBase1 Publication
Biological Process ubiquitin-dependent protein catabolic process Source:InterPro

Cellular Location

Photoreceptor inner segment
Cytoplasm
Nucleus

Involvement in disease

Leber congenital amaurosis 19 (LCA19):
A form of Leber congenital amaurosis, a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. LCA19 is an autosomal recessive form characterized by reduced vision in early childhood and severely reduced responses of both rods and cones.