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    USP45 ubiquitin specific peptidase 45 [ Homo sapiens (human) ]

    Gene ID: 85015, updated on 2-May-2024

    Summary

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    Official Symbol
    USP45provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 45provided by HGNC
    Primary source
    HGNC:HGNC:20080
    See related
    Ensembl:ENSG00000123552 MIM:618439; AllianceGenome:HGNC:20080
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LCA19
    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]
    Expression
    Ubiquitous expression in gall bladder (RPKM 1.4), small intestine (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See USP45 in Genome Data Viewer
    Location:
    6q16.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (99432325..99517846, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (100606672..100692182, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (99880201..99963299, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:99841327-99841966 Neighboring gene coenzyme Q3, methyltransferase Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:99849871-99851070 Neighboring gene PNN interacting serine and arginine rich protein Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:99872987-99874186 Neighboring gene PNISR antisense RNA 1 Neighboring gene thiosulfate sulfurtransferase like domain containing 3 Neighboring gene NANOG hESC enhancer GRCh37_chr6:99904596-99905315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17417 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:99962307-99963214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:99963215-99964120 Neighboring gene uncharacterized LOC124901365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24859 Neighboring gene cyclin C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24861

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MYH10 Combines with MYH9 to Recruit USP45 by Deubiquitinating Snail and Promotes Serous Ovarian Cancer Carcinogenesis, Progression, and Cisplatin Resistance. Liu L, et al. Adv Sci (Weinh), 2023 May. PMID 36929633, Free PMC Article
    2. Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. Yi Z, et al. J Med Genet, 2019 May. PMID 30573563
    3. Self-stabilizing regulation of deubiquitinating enzymes in an enzymatic activity-dependent manner. Hou Z, et al. Int J Biol Macromol, 2021 Jun 30. PMID 33864866
    4. USP45 deubiquitylase controls ERCC1-XPF endonuclease-mediated DNA damage responses. Perez-Oliva AB, et al. EMBO J, 2015 Feb 3. PMID 25538220, Free PMC Article
    5. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. Quesada V, et al. Biochem Biophys Res Commun, 2004 Jan 30. PMID 14715245

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MYH10 Combines with MYH9 to Recruit USP45 by Deubiquitinating Snail and Promotes Serous Ovarian Cancer Carcinogenesis, Progression, and Cisplatin Resistance.
      Title: MYH10 Combines with MYH9 to Recruit USP45 by Deubiquitinating Snail and Promotes Serous Ovarian Cancer Carcinogenesis, Progression, and Cisplatin Resistance.
    2. Our study implicates that biallelic mutations in USP45 are associated with the occurrence of LCA. Moreover, our results indicate that USP45 is indispensable to the maintenance of photoreceptor function.
      Title: Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis.
    3. Using mass spectrometry this study identified CCDC99 as a new target of USP45. The data showed that CCDC99 and USP45 are part of the same complex and that their interaction specifically depends on the catalytic activity of USP45.
      Title: USP45 and Spindly are part of the same complex implicated in cell migration.
    4. these results establish USP45 as a new regulator of XPF-ERCC1 crucial for efficient DNA repair
      Title: USP45 deubiquitylase controls ERCC1-XPF endonuclease-mediated DNA damage responses.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Leber congenital amaurosis 19
    MedGen: C5193139 OMIM: 618513 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC14793

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cysteine-type deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables cysteine-type deubiquitinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in global genome nucleotide-excision repair TAS
    Traceable Author Statement
    more info
    		  
    involved_in neural retina development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in photoreceptor cell maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within protein deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 45
    Names
    deubiquitinating enzyme 45
    ubiquitin specific protease 45
    ubiquitin thioesterase 45
    ubiquitin thiolesterase 45
    ubiquitin-specific-processing protease 45
    NP_001073950.1
    NP_001332950.1
    NP_001332951.1
    NP_001332952.1
    NP_001332953.1
    NP_001332954.1
    NP_001332955.1
    NP_001332956.1
    NP_001332957.1
    NP_001332958.1
    NP_001332959.1
    NP_001332962.1
    NP_116318.2
    XP_005267227.1
    XP_016866870.1
    XP_016866874.1
    XP_016866875.1
    XP_047275378.1
    XP_047275379.1
    XP_047275380.1
    XP_047275381.1
    XP_047275382.1
    XP_054212577.1
    XP_054212578.1
    XP_054212579.1
    XP_054212580.1
    XP_054212581.1
    XP_054212582.1
    XP_054212583.1
    XP_054212584.1
    XP_054212585.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001080481.3 → NP_001073950.1  ubiquitin carboxyl-terminal hydrolase 45 isoform a

      See identical proteins and their annotated locations for NP_001073950.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-3 all encode the same isoform (a).
      Source sequence(s)
      AL137784, AL513550
      Consensus CDS
      CCDS34501.1
      UniProtKB/Swiss-Prot
      B2RXG0, Q5T062, Q70EL2, Q86T44, Q86TC0, Q9BRU1
      UniProtKB/TrEMBL
      E2QRF0
      Related
      ENSP00000333376.6, ENST00000327681.10
      Conserved Domains (3) summary
      COG5207
      Location:5 → 358
      UBP14; Uncharacterized Zn-finger protein, UBP-type [General function prediction only]
      cd02667
      Location:603 → 811
      Peptidase_C19K; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      cl02553
      Location:191 → 387
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...

    2. NM_001346021.3 → NP_001332950.1  ubiquitin carboxyl-terminal hydrolase 45 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), as well as variants 1 and 3, encodes isoform a.
      Source sequence(s)
      AL137784, AL513550
      Consensus CDS
      CCDS34501.1
      UniProtKB/Swiss-Prot
      B2RXG0, Q5T062, Q70EL2, Q86T44, Q86TC0, Q9BRU1
      UniProtKB/TrEMBL
      E2QRF0
      Conserved Domains (3) summary
      COG5207
      Location:5 → 358
      UBP14; Uncharacterized Zn-finger protein, UBP-type [General function prediction only]
      cd02667
      Location:603 → 811
      Peptidase_C19K; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      cl02553
      Location:191 → 387
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...

    3. NM_001346022.3 → NP_001332951.1  ubiquitin carboxyl-terminal hydrolase 45 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 1 and 2, encodes isoform a.
      Source sequence(s)
      AL137784, AL513550
      Consensus CDS
      CCDS34501.1
      UniProtKB/Swiss-Prot
      B2RXG0, Q5T062, Q70EL2, Q86T44, Q86TC0, Q9BRU1
      UniProtKB/TrEMBL
      E2QRF0
      Related
      ENSP00000424372.1, ENST00000500704.7
      Conserved Domains (3) summary
      COG5207
      Location:5 → 358
      UBP14; Uncharacterized Zn-finger protein, UBP-type [General function prediction only]
      cd02667
      Location:603 → 811
      Peptidase_C19K; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      cl02553
      Location:191 → 387
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...

    4. NM_001346023.3 → NP_001332952.1  ubiquitin carboxyl-terminal hydrolase 45 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL137784, AL513550
      UniProtKB/TrEMBL
      E2QRF0

    5. NM_001346024.3 → NP_001332953.1  ubiquitin carboxyl-terminal hydrolase 45 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL137784, AL513550
      UniProtKB/TrEMBL
      E2QRF0

    6. NM_001346025.3 → NP_001332954.1  ubiquitin carboxyl-terminal hydrolase 45 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL137784, AL513550
      UniProtKB/TrEMBL
      E2QRF0

    7. NM_001346026.3 → NP_001332955.1  ubiquitin carboxyl-terminal hydrolase 45 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL137784, AL513550
      UniProtKB/TrEMBL
      E2QRF0

    8. NM_001346027.3 → NP_001332956.1  ubiquitin carboxyl-terminal hydrolase 45 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 9 and 10, encodes isoform f.
      Source sequence(s)
      AL137784, AL513550
      Conserved Domains (1) summary
      cd02667
      Location:243 → 451
      Peptidase_C19K; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...

    9. NM_001346028.3 → NP_001332957.1  ubiquitin carboxyl-terminal hydrolase 45 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 8 and 10, encodes isoform f.
      Source sequence(s)
      AL137784, AL513550
      Conserved Domains (1) summary
      cd02667
      Location:243 → 451
      Peptidase_C19K; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...

    10. NM_001346029.3 → NP_001332958.1  ubiquitin carboxyl-terminal hydrolase 45 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 8 and 9, encodes isoform f.
      Source sequence(s)
      AL137784, AL513550
      Conserved Domains (1) summary
      cd02667
      Location:243 → 451
      Peptidase_C19K; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...

    11. NM_001346030.2 → NP_001332959.1  ubiquitin carboxyl-terminal hydrolase 45 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL137784, AL513550

    12. NM_001346033.2 → NP_001332962.1  ubiquitin carboxyl-terminal hydrolase 45 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variant 12, encodes isoform h.
      Source sequence(s)
      AL137784, AL513550
      Consensus CDS
      CCDS87419.1
      UniProtKB/TrEMBL
      D6RBV3, D6RC01
      Related
      ENSP00000423993.1, ENST00000472914.6

    13. NM_032929.3 → NP_116318.2  ubiquitin carboxyl-terminal hydrolase 45 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variant 13, encodes isoform h.
      Source sequence(s)
      AL137784, AL513550
      Consensus CDS
      CCDS87419.1
      UniProtKB/TrEMBL
      D6RBV3, D6RC01
      Related
      ENSP00000330540.5, ENST00000329966.10

    RNA

    1. NR_144344.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL137784, AL513550
      Related
      ENST00000496518.6

    2. NR_144345.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL137784, AL513550

    3. NR_144346.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL137784, AL513550

    4. NR_144347.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL137784, AL513550

    5. NR_144348.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL137784, AL513550

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      99432325..99517846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267170.5 → XP_005267227.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X1

      See identical proteins and their annotated locations for XP_005267227.1

      UniProtKB/Swiss-Prot
      B2RXG0, Q5T062, Q70EL2, Q86T44, Q86TC0, Q9BRU1
      UniProtKB/TrEMBL
      E2QRF0
      Conserved Domains (3) summary
      COG5207
      Location:5 → 358
      UBP14; Uncharacterized Zn-finger protein, UBP-type [General function prediction only]
      cd02667
      Location:603 → 811
      Peptidase_C19K; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      cl02553
      Location:191 → 387
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...

    2. XM_047419422.1 → XP_047275378.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X1

      UniProtKB/Swiss-Prot
      B2RXG0, Q5T062, Q70EL2, Q86T44, Q86TC0, Q9BRU1

    3. XM_047419423.1 → XP_047275379.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X2

    4. XM_017011381.1 → XP_016866870.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X3

    5. XM_017011385.3 → XP_016866874.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X4

    6. XM_017011386.3 → XP_016866875.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X5

    7. XM_047419426.1 → XP_047275382.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X6

    8. XM_047419424.1 → XP_047275380.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X6

    9. XM_047419425.1 → XP_047275381.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      100606672..100692182 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356603.1 → XP_054212578.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X1

    2. XM_054356604.1 → XP_054212579.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X2

    3. XM_054356602.1 → XP_054212577.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X1

    4. XM_054356605.1 → XP_054212580.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X3

    5. XM_054356606.1 → XP_054212581.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X4

    6. XM_054356607.1 → XP_054212582.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X5

    7. XM_054356610.1 → XP_054212585.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X6

    8. XM_054356608.1 → XP_054212583.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X6

    9. XM_054356609.1 → XP_054212584.1  ubiquitin carboxyl-terminal hydrolase 45 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q70EL2.3 GenPept UniProtKB/Swiss-Prot:Q70EL2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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