USP45 - ubiquitin specific peptidase 45 Gene

Homo sapiens

Also known as LCA19

Gene ID: 85015 | Gene type: protein coding

About USP45

Cytogenetic location: 6q16.2 Genomic coordinates (GRCh38): 6:99,432,325-99,517,846 (from NCBI)

This gene has 13 transcripts (splice variants), 217 orthologues, 71 paralogues and is associated with 3 phenotypes. Ubiquitous expression in gall bladder (RPKM 1.4), small intestine (RPKM 1.4) and 25 other tissues.

Summary

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. [provided by RefSeq, Sep 2016]

USP45 Products(13)

mRNA	Protein	Name
NM_001080481.3	NP_001073950.1	ubiquitin carboxyl-terminal hydrolase 45 isoform a
NM_001346021.3	NP_001332950.1	ubiquitin carboxyl-terminal hydrolase 45 isoform a
NM_001346022.3	NP_001332951.1	ubiquitin carboxyl-terminal hydrolase 45 isoform a
NM_001346023.3	NP_001332952.1	ubiquitin carboxyl-terminal hydrolase 45 isoform b
NM_001346024.3	NP_001332953.1	ubiquitin carboxyl-terminal hydrolase 45 isoform c
NM_001346025.3	NP_001332954.1	ubiquitin carboxyl-terminal hydrolase 45 isoform d
NM_001346026.3	NP_001332955.1	ubiquitin carboxyl-terminal hydrolase 45 isoform e
NM_001346027.3	NP_001332956.1	ubiquitin carboxyl-terminal hydrolase 45 isoform f
NM_001346028.3	NP_001332957.1	ubiquitin carboxyl-terminal hydrolase 45 isoform f
NM_001346029.3	NP_001332958.1	ubiquitin carboxyl-terminal hydrolase 45 isoform f
NM_001346030.2	NP_001332959.1	ubiquitin carboxyl-terminal hydrolase 45 isoform g
NM_001346033.2	NP_001332962.1	ubiquitin carboxyl-terminal hydrolase 45 isoform h
NM_032929.3	NP_116318.2	ubiquitin carboxyl-terminal hydrolase 45 isoform h

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cysteine-type deubiquitinase activity	IDA IDA: Inferred from direct assay	14715245	GOA
enables cysteine-type deubiquitinase activity	IMP IMP: Inferred from mutant phenotype	25538220	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25538220	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within DNA repair	IMP IMP: Inferred from mutant phenotype	25538220	GOA
involved in cell migration	IMP IMP: Inferred from mutant phenotype	30258100	GOA
acts upstream of or within protein deubiquitination	IMP IMP: Inferred from mutant phenotype	25538220	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	25538220	GOA
located in nucleus	IDA IDA: Inferred from direct assay	25538220	GOA
located in photoreceptor inner segment	IDA IDA: Inferred from direct assay	30573563	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

USP45 Protein Structure

zf-UBP

UCH

0
200
400
600
814 a.a.

Protein Preferred Names

Protein Names

ubiquitin carboxyl-terminal hydrolase 45

deubiquitinating enzyme 45

Related Diseases

Diseases

Alias

Leber Congenital Amaurosis 19

LCA19

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Uv-Sensitive Syndrome

Uvss	Uv Sensitive Syndrome
Ultraviolet Sensitive Syndrome

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15556	USP45 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	USP45	VGNC	VGNC:66888
Rattus norvegicus	USP45	RGD	RGD:1310976
Bos taurus	USP45	VGNC	VGNC:52846
Macaca mulatta	USP45	VGNC	VGNC:79233
Mus musculus	USP45	MGD	MGI:101850
Canis familiaris	USP45	VGNC	VGNC:55015

Name
Email *

	Sorry, but the email address you supplied was invalid.