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

Gene ID: 85015, updated on 7-Apr-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
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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
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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
  
involved_in protein deubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
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

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