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] See more...

Aliases for USP45 Gene

Aliases for USP45 Gene

  • Ubiquitin Specific Peptidase 45 2 3 5
  • Ubiquitin-Specific-Processing Protease 45 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 45 3 4
  • Ubiquitin Specific Protease 45 2 3
  • Deubiquitinating Enzyme 45 3 4
  • Ubiquitin Thioesterase 45 3 4
  • Ubiquitin Thiolesterase 45 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 51
  • MGC14793 2
  • LCA19 3
  • USP45 5

External Ids for USP45 Gene

Previous GeneCards Identifiers for USP45 Gene

  • GC06M099880
  • GC06M099925
  • GC06M099987
  • GC06M097320

Summaries for USP45 Gene

Entrez Gene Summary for USP45 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 protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]

GeneCards Summary for USP45 Gene

USP45 (Ubiquitin Specific Peptidase 45) is a Protein Coding gene. Diseases associated with USP45 include Leber Congenital Amaurosis 19 and Leber Plus Disease. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is USP16.

UniProtKB/Swiss-Prot Summary for USP45 Gene

Additional gene information for USP45 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP45 Gene

Genomics for USP45 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USP45 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J099514 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 610.9 +6.7 6745 3.6 PRDM10 ZNF629 REST TFE3 IKZF1 NFKBIZ ZNF692 POLR2A BACH1 JUND USP45 lnc-CCNC-2 RPS3P5 PNISR ENSG00000228506 CCNC piR-32977 TSTD3
GH06J099520 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 600.7 +0.0 32 2.7 CTCF TEAD4 PRDM10 TFE3 NFKBIZ KDM1A ZNF692 POLR2A ZHX2 LARP7 USP45 RPS3P5 ENSG00000228506 lnc-CCNC-2 PNISR TSTD3
GH06J099566 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 42.2 -46.3 -46272 3.2 ZNF221 BRCA1 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST CCNC NONHSAG044439.2 lnc-USP45-3 PNISR ENSG00000228506 USP45 RPS3P5 FBXL4 HE855958 TSTD3
GH06J098845 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 11.1 +675.9 675918 0.3 CTCF PRDM10 ZNF629 IKZF1 ZNF692 ZNF143 PRDM1 ZSCAN4 POLR2A PATZ1 PNISR USP45 POU3F2 HSALNG0052162 FBXL4
GH06J098846 Promoter/Enhancer 1 CraniofacialAtlas dbSUPER 11.1 +676.3 676303 0.2 PRDM10 ZNF692 ZIC2 CTCF ZNF341 ZBTB20 ZNF585B ZBTB26 POLR2A ZNF335 PNISR ENSG00000228506 USP45 HSALNG0052162 POU3F2 FBXL4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USP45 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP45

Top Transcription factor binding sites by QIAGEN in the USP45 gene promoter:
  • ATF-2
  • c-Jun
  • CUTL1
  • FOXO1
  • FOXO1a
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for USP45 Gene

Genomic Locations for USP45 Gene
chr6:99,432,306-99,521,728
(GRCh38/hg38)
Size:
89,423 bases
Orientation:
Minus strand
chr6:99,880,182-99,969,604
(GRCh37/hg19)
Size:
89,423 bases
Orientation:
Minus strand

Genomic View for USP45 Gene

Genes around USP45 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP45 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP45 Gene

Proteins for USP45 Gene

  • Protein details for USP45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q70EL2-UBP45_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 45
    Protein Accession:
    Q70EL2
    Secondary Accessions:
    • B2RXG0
    • Q5T062
    • Q86T44
    • Q86TC0
    • Q9BRU1

    Protein attributes for USP45 Gene

    Size:
    814 amino acids
    Molecular mass:
    91733 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for USP45 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USP45 Gene

Selected DME Specific Peptides for USP45 Gene

Q70EL2:
  • QQQDSQELL
  • WLCLKCG
  • AYLLFYE
  • NLGNTCF

Post-translational modifications for USP45 Gene

  • Ubiquitination at Lys391
  • Modification sites at PhosphoSitePlus

Domains & Families for USP45 Gene

Gene Families for USP45 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for USP45 Gene

InterPro:
Blocks:
  • Ubiquitin thiolesterase, family 2
  • Zn-finger in ubiquitin thiolesterase
ProtoNet:

Suggested Antigen Peptide Sequences for USP45 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin carboxyl-terminal hydrolase (E2QRF0_HUMAN)
  • Ubiquitin specific peptidase 45 (Q5JV79_HUMAN)
  • Ubiquitin-specific-processing protease 45 (UBP45_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q70EL2

UniProtKB/Swiss-Prot:

UBP45_HUMAN :
  • Belongs to the peptidase C19 family.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP45: view

Function for USP45 Gene

Molecular function for USP45 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the maintenance of photoreceptor function.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence={ECO:0000269|PubMed:14715245};.

Enzyme Numbers (IUBMB) for USP45 Gene

Phenotypes From GWAS Catalog for USP45 Gene

Gene Ontology (GO) - Molecular Function for USP45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity TAS --
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with USP45: view
genes like me logo Genes that share phenotypes with USP45: view

Human Phenotype Ontology for USP45 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for USP45

CRISPR Products

miRNA for USP45 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP45

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for USP45 Gene

Localization for USP45 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP45 Gene

Photoreceptor inner segment.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP45 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for USP45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA,IDA 30573563
GO:0005634 nucleus IDA 25538220
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 25538220
genes like me logo Genes that share ontologies with USP45: view

Pathways & Interactions for USP45 Gene

genes like me logo Genes that share pathways with USP45: view

Gene Ontology (GO) - Biological Process for USP45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IMP 25538220
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0016579 protein deubiquitination IEA,IMP 25538220
GO:0045494 photoreceptor cell maintenance IEA,ISS --
genes like me logo Genes that share ontologies with USP45: view

No data available for SIGNOR curated interactions for USP45 Gene

Drugs & Compounds for USP45 Gene

No Compound Related Data Available

Transcripts for USP45 Gene

mRNA/cDNA for USP45 Gene

13 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP45

Alternative Splicing Database (ASD) splice patterns (SP) for USP45 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b
SP1: - -
SP2: -
SP3:
SP4:
SP5: -

Relevant External Links for USP45 Gene

GeneLoc Exon Structure for
USP45

Expression for USP45 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP45 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Bone (Muscoskeletal System)

Protein differential expression in normal tissues from HIPED for USP45 Gene

This gene is overexpressed in Seminal vesicle (10.4), Colon (9.7), Prostate (9.2), Urinary Bladder (8.7), Rectum (7.1), and Cardia (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for USP45 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP45

SOURCE GeneReport for Unigene cluster for USP45 Gene:

Hs.143410

mRNA Expression by UniProt/SwissProt for USP45 Gene:

Q70EL2-UBP45_HUMAN
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:30573563).

Evidence on tissue expression from TISSUES for USP45 Gene

  • Nervous system(4.4)
  • Muscle(4.2)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with USP45: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP45 Gene

Orthologs for USP45 Gene

This gene was present in the common ancestor of animals.

Orthologs for USP45 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia USP45 30 31
  • 99.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia USP45 30 31
  • 88.14 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia USP45 30 31
  • 83.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Usp45 30
  • 83.53 (n)
Mouse
(Mus musculus)
Mammalia Usp45 30 17 31
  • 81.52 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia USP45 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia USP45 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves USP45 31
  • 68 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia USP45 31
  • 62 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii usp45 30 31
  • 57.55 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG4165 31
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cyk-3 31
  • 14 (a)
OneToMany
Species where no ortholog for USP45 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for USP45 Gene

ENSEMBL:
Gene Tree for USP45 (if available)
TreeFam:
Gene Tree for USP45 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USP45: view image

Paralogs for USP45 Gene

(4) SIMAP similar genes for USP45 Gene using alignment to 11 proteins:

  • UBP45_HUMAN
  • D6RBV3_HUMAN
  • D6RC01_HUMAN
  • D6RE98_HUMAN
  • E2QRF0_HUMAN
  • F5H1L5_HUMAN
  • H0Y8J5_HUMAN
  • H0Y8Q0_HUMAN
  • H0Y986_HUMAN
  • H0YA21_HUMAN
  • Q5JV78_HUMAN
genes like me logo Genes that share paralogs with USP45: view

Variants for USP45 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP45 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
638072 Pathogenic: LEBER CONGENITAL AMAUROSIS 19 99,468,617(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
638073 Uncertain Significance: not provided 99,446,136(-) T/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
742059 Benign: not provided 99,445,900(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
770177 Benign: not provided 99,482,751(-) A/G SPLICE_DONOR_VARIANT,MISSENSE_VARIANT
776142 Benign: not provided 99,464,718(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for USP45 Gene

Structural Variations from Database of Genomic Variants (DGV) for USP45 Gene

Variant ID Type Subtype PubMed ID
esv3610119 CNV loss 21293372
esv3610120 CNV loss 21293372
nsv1029536 CNV loss 25217958
nsv463983 CNV loss 19166990
nsv604254 CNV loss 21841781

Variation tolerance for USP45 Gene

Residual Variation Intolerance Score: 95.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.05; 96.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USP45 Gene

Human Gene Mutation Database (HGMD)
USP45
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP45

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP45 Gene

Disorders for USP45 Gene

MalaCards: The human disease database

(4) MalaCards diseases for USP45 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leber congenital amaurosis 19
  • lca19
leber plus disease
  • lca
uv-sensitive syndrome
  • uv sensitive syndrome
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search USP45 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UBP45_HUMAN
  • Leber congenital amaurosis 19 (LCA19) [MIM:618513]: 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. {ECO:0000269 PubMed:30573563}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for USP45

genes like me logo Genes that share disorders with USP45: view

No data available for Genatlas for USP45 Gene

Publications for USP45 Gene

  1. Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. (PMID: 30573563) Yi Z … Zhang Q (Journal of medical genetics 2019) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PMID: 14715245) Quesada V … López-Otín C (Biochemical and biophysical research communications 2004) 3 4
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  5. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente XS … López-Otín C (Nature reviews. Genetics 2003) 2 3

Products for USP45 Gene

  • Signalway Proteins for USP45

Sources for USP45 Gene