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

Summary

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

Location:: 6q16.2

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (99432325..99517846, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (100606672..100692182, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (99880201..99963299, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G63480 (e-PCR)
- UniSTS:140592

SHGC-147725 (e-PCR)
- UniSTS:175973

RH79595 (e-PCR)
- UniSTS:87665

SHGC-132588 (e-PCR)
- UniSTS:173960

D6S1189E (e-PCR)
- UniSTS:62674

SHGC-36326 (e-PCR)
- UniSTS:80610

RH92889 (e-PCR)
- UniSTS:89323

USP45__5049 (e-PCR)
- UniSTS:463341

RH18455 (e-PCR)
- UniSTS:55801

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

EC 3.4.19.12

NP_001332950.1

EC 3.4.19.12

NP_001332951.1

EC 3.4.19.12

NP_001332952.1

EC 3.4.19.12

NP_001332953.1

EC 3.4.19.12

NP_001332954.1

EC 3.4.19.12

NP_001332955.1

EC 3.4.19.12

NP_001332956.1

EC 3.4.19.12

NP_001332957.1

EC 3.4.19.12

NP_001332958.1

EC 3.4.19.12

NP_001332959.1

EC 3.4.19.12

NP_001332962.1

EC 3.4.19.12

NP_116318.2

EC 3.4.19.12

XP_005267227.1

EC 3.4.19.12

XP_016866870.1

EC 3.4.19.12

XP_016866874.1

EC 3.4.19.12

XP_016866875.1

EC 3.4.19.12

XP_047275378.1

EC 3.4.19.12

XP_047275379.1

EC 3.4.19.12

XP_047275380.1

EC 3.4.19.12

XP_047275381.1

EC 3.4.19.12

XP_047275382.1

EC 3.4.19.12

XP_054212577.1

EC 3.4.19.12

XP_054212578.1

EC 3.4.19.12

XP_054212579.1

EC 3.4.19.12

XP_054212580.1

EC 3.4.19.12

XP_054212581.1

EC 3.4.19.12

XP_054212582.1

EC 3.4.19.12

XP_054212583.1

EC 3.4.19.12

XP_054212584.1

EC 3.4.19.12

XP_054212585.1

EC 3.4.19.12

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)

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

Status: REVIEWED

Source sequence(s)

AL137784, AL513550

UniProtKB/TrEMBL

E2QRF0
NM_001346024.3 → NP_001332953.1 ubiquitin carboxyl-terminal hydrolase 45 isoform c

Status: REVIEWED

Source sequence(s)

AL137784, AL513550

UniProtKB/TrEMBL

E2QRF0
NM_001346025.3 → NP_001332954.1 ubiquitin carboxyl-terminal hydrolase 45 isoform d

Status: REVIEWED

Source sequence(s)

AL137784, AL513550

UniProtKB/TrEMBL

E2QRF0
NM_001346026.3 → NP_001332955.1 ubiquitin carboxyl-terminal hydrolase 45 isoform e

Status: REVIEWED

Source sequence(s)

AL137784, AL513550

UniProtKB/TrEMBL

E2QRF0
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 ...
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 ...
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 ...
NM_001346030.2 → NP_001332959.1 ubiquitin carboxyl-terminal hydrolase 45 isoform g

Status: REVIEWED

Source sequence(s)

AL137784, AL513550
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
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

NR_144344.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL137784, AL513550

Related

ENST00000496518.6
NR_144345.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL137784, AL513550
NR_144346.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL137784, AL513550
NR_144347.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL137784, AL513550
NR_144348.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL137784, AL513550

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

99432325..99517846 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RXG0, Q5T062, Q70EL2, Q86T44, Q86TC0, Q9BRU1
XM_047419423.1 → XP_047275379.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X2
XM_017011381.1 → XP_016866870.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X3
XM_017011385.3 → XP_016866874.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X4
XM_017011386.3 → XP_016866875.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X5
XM_047419426.1 → XP_047275382.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X6
XM_047419424.1 → XP_047275380.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X6
XM_047419425.1 → XP_047275381.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

100606672..100692182 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054356603.1 → XP_054212578.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X1
XM_054356604.1 → XP_054212579.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X2
XM_054356602.1 → XP_054212577.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X1
XM_054356605.1 → XP_054212580.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X3
XM_054356606.1 → XP_054212581.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X4
XM_054356607.1 → XP_054212582.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X5
XM_054356610.1 → XP_054212585.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X6
XM_054356608.1 → XP_054212583.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X6
XM_054356609.1 → XP_054212584.1 ubiquitin carboxyl-terminal hydrolase 45 isoform X6