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    USP43 ubiquitin specific peptidase 43 [ Homo sapiens (human) ]

    Gene ID: 124739, updated on 28-Oct-2024

    Summary

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    Official Symbol
    USP43provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 43provided by HGNC
    Primary source
    HGNC:HGNC:20072
    See related
    Ensembl:ENSG00000154914 AllianceGenome:HGNC:20072
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable ISG15-specific peptidase activity. Predicted to be involved in translesion synthesis. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in placenta (RPKM 3.1), prostate (RPKM 3.0) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See USP43 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (9645260..9729687)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (9552990..9637424)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (9548834..9633004)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:9161269-9161860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9176317-9176818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11724 Neighboring gene syntaxin 8 Neighboring gene NANOG hESC enhancer GRCh37_chr17:9225613-9226114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9232495-9233000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9234013-9234518 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:9233507-9234012 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:9233001-9233506 Neighboring gene Sharpr-MPRA regulatory region 2542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9377307-9377808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:9409688-9410556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:9410557-9411424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11726 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11727 Neighboring gene ribosomal protein L19 pseudogene 18 Neighboring gene cilia and flagella associated protein 52 Neighboring gene uncharacterized LOC124903924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8198 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9549075-9549722 Neighboring gene uncharacterized LOC107985011 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:9550412-9551611 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9565481-9565980 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:9579536-9580735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:9604114-9605313 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:9612165-9612329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9630942-9631442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9631443-9631943 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:9680825-9681382 Neighboring gene DHRS7C intron CAGE-defined high expression enhancer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47652 Neighboring gene uncharacterized LOC124903925 Neighboring gene dehydrogenase/reductase 7C Neighboring gene GSG1 like 2

    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 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. Ubiquitin-Specific Protease 43 Impacts Pancreatic Ductal Adenocarcinoma Prognosis by Altering Its Proliferation and Infiltration of Surrounding Immune Cells. Zhao Z, et al. J Immunol Res, 2023. PMID 37050932, Free PMC Article
    2. Prognostic Value and Oncogenic Effects of Ubiquitin-Specific Protease 43 in Lung Squamous Cell Carcinoma. Sun Q, et al. Tohoku J Exp Med, 2022 Jun 8. PMID 35321978
    3. USP43 directly regulates ZEB1 protein, mediating proliferation and metastasis of colorectal cancer. Ye DX, et al. J Cancer, 2021. PMID 33391437, Free PMC Article
    4. Ca(v)2.2-NFAT2-USP43 axis promotes invadopodia formation and breast cancer metastasis through cortactin stabilization. Xue Y, et al. Cell Death Dis, 2022 Sep 22. PMID 36137995, Free PMC Article
    5. Imbalance of the reciprocally inhibitory loop between the ubiquitin-specific protease USP43 and EGFR/PI3K/AKT drives breast carcinogenesis. He L, et al. Cell Res, 2018 Sep. PMID 30135474, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ubiquitin-Specific Protease 43 Impacts Pancreatic Ductal Adenocarcinoma Prognosis by Altering Its Proliferation and Infiltration of Surrounding Immune Cells.
      Title: Ubiquitin-Specific Protease 43 Impacts Pancreatic Ductal Adenocarcinoma Prognosis by Altering Its Proliferation and Infiltration of Surrounding Immune Cells.
    2. Cav2.2-NFAT2-USP43 axis promotes invadopodia formation and breast cancer metastasis through cortactin stabilization.
      Title: Ca(v)2.2-NFAT2-USP43 axis promotes invadopodia formation and breast cancer metastasis through cortactin stabilization.
    3. Prognostic Value and Oncogenic Effects of Ubiquitin-Specific Protease 43 in Lung Squamous Cell Carcinoma.
      Title: Prognostic Value and Oncogenic Effects of Ubiquitin-Specific Protease 43 in Lung Squamous Cell Carcinoma.
    4. study identifies USP43 to be an H2BK120 deubiquitinase and a potential tumor suppressor and reveals a reciprocally inhibitory loop between USP43 and EGFR/PI3K/AKT, whose imbalance drives breast carcinogenesis
      Title: Imbalance of the reciprocally inhibitory loop between the ubiquitin-specific protease USP43 and EGFR/PI3K/AKT drives breast carcinogenesis.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    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

    • FLJ30626

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ISG15-specific peptidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables cysteine-type deubiquitinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein deubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in translesion synthesis TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 43
    Names
    deubiquitinating enzyme 43
    ubiquitin specific protease 43
    ubiquitin thioesterase 43
    ubiquitin thiolesterase 43
    ubiquitin-specific-processing protease 43
    NP_001254505.1
    NP_694942.3
    XP_011521941.1
    XP_016879648.1
    XP_016879649.1
    XP_016879650.1
    XP_047291275.1
    XP_047291276.1
    XP_054170979.1
    XP_054170980.1
    XP_054170981.1
    XP_054170982.1
    XP_054170983.1
    XP_054170984.1

    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_001267576.2 → NP_001254505.1  ubiquitin carboxyl-terminal hydrolase 43 isoform 2

      See identical proteins and their annotated locations for NP_001254505.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 3' coding region, compared to variant 1, which results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC118755, AJ583817, BC039653, BC136368
      Consensus CDS
      CCDS58516.1
      UniProtKB/Swiss-Prot
      Q70EL4
      Related
      ENSP00000458963.1, ENST00000570475.5
      Conserved Domains (3) summary
      cd02674
      Location:540 → 703
      Peptidase_C19R; 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:102 → 284
      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 ...
      pfam12300
      Location:36 → 107
      DUF3628; Protein of unknown function (DUF3628)

    2. NM_153210.5 → NP_694942.3  ubiquitin carboxyl-terminal hydrolase 43 isoform 1

      See identical proteins and their annotated locations for NP_694942.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC118755, AJ583817, BC039653, BC144041
      Consensus CDS
      CCDS45610.1
      UniProtKB/Swiss-Prot
      A6NDT9, B7ZLT9, B7ZVX5, Q70EL4, Q8N2C5, Q96DQ6
      Related
      ENSP00000285199.6, ENST00000285199.12
      Conserved Domains (1) summary
      COG5560
      Location:96 → 711
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]

    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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      9645260..9729687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024159.3 → XP_016879648.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X2

      UniProtKB/TrEMBL
      V9GXZ5
      Related
      ENSP00000459328.3, ENST00000574408.5
      Conserved Domains (3) summary
      COG5560
      Location:32 → 508
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cd02674
      Location:337 → 505
      Peptidase_C19R; 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:44 → 81
      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_047435319.1 → XP_047291275.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X3

    3. XM_011523639.3 → XP_011521941.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X1

      Conserved Domains (3) summary
      cd02674
      Location:509 → 677
      Peptidase_C19R; 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:102 → 221
      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 ...
      pfam12300
      Location:36 → 107
      DUF3628; Protein of unknown function (DUF3628)

    4. XM_047435320.1 → XP_047291276.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X5

    5. XM_017024160.2 → XP_016879649.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X4

      UniProtKB/TrEMBL
      V9GXZ5
      Conserved Domains (2) summary
      cd02674
      Location:229 → 397
      Peptidase_C19R; 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 ...
      pfam00443
      Location:230 → 396
      UCH; Ubiquitin carboxyl-terminal hydrolase

    6. XM_017024161.1 → XP_016879650.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X4

      UniProtKB/TrEMBL
      V9GXZ5
      Conserved Domains (2) summary
      cd02674
      Location:229 → 397
      Peptidase_C19R; 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 ...
      pfam00443
      Location:230 → 396
      UCH; Ubiquitin carboxyl-terminal hydrolase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      9552990..9637424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315005.1 → XP_054170980.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X2

    2. XM_054315006.1 → XP_054170981.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X3

    3. XM_054315004.1 → XP_054170979.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X1

    4. XM_054315009.1 → XP_054170984.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X5

    5. XM_054315007.1 → XP_054170982.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X4

    6. XM_054315008.1 → XP_054170983.1  ubiquitin carboxyl-terminal hydrolase 43 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q70EL4.2 GenPept UniProtKB/Swiss-Prot:Q70EL4

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