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    USP54 ubiquitin specific peptidase 54 [ Homo sapiens (human) ]

    Gene ID: 159195, updated on 7-Apr-2024

    Summary

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    Official Symbol
    USP54provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 54provided by HGNC
    Primary source
    HGNC:HGNC:23513
    See related
    Ensembl:ENSG00000166348 AllianceGenome:HGNC:23513
    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
    Also known as
    C10orf29; bA137L10.3; bA137L10.4
    Summary
    Predicted to enable thiol-dependent deubiquitinase. Predicted to be involved in protein deubiquitination. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in thyroid (RPKM 13.4), brain (RPKM 8.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q22.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73497538..73625981, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74368953..74497405, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75257296..75385739, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene MSS51 mitochondrial translational activator Neighboring gene protein phosphatase 3 catalytic subunit beta Neighboring gene MPRA-validated peak1010 silencer Neighboring gene MPRA-validated peak1011 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3564 Neighboring gene PPP3CB antisense RNA 1 (head to head) Neighboring gene Sharpr-MPRA regulatory region 13746 Neighboring gene RNA, U6 small nuclear 883, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr10:75303318-75303526 Neighboring gene MPRA-validated peak1012 silencer Neighboring gene ribosomal protein S26 pseudogene 41 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:75351383-75352133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:75407469-75408172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3567 Neighboring gene Sharpr-MPRA regulatory region 4994 Neighboring gene myozenin 1 Neighboring gene SYNPO2L antisense RNA 1 Neighboring gene synaptopodin 2 like

    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. The deubiquitinase USP54 is overexpressed in colorectal cancer stem cells and promotes intestinal tumorigenesis. Fraile JM, et al. Oncotarget, 2016 Nov 15. PMID 27769071, Free PMC Article
    2. Ab initio protein modelling reveals novel human MIT domains. Rigden DJ, et al. FEBS Lett, 2009 Mar 4. PMID 19302785
    3. A 3D structural SARS-CoV-2-human interactome to explore genetic and drug perturbations. Wierbowski SD, et al. Nat Methods, 2021 Dec. PMID 34845387, Free PMC Article
    4. USP51 promotes deubiquitination and stabilization of ZEB1. Zhou Z, et al. Am J Cancer Res, 2017. PMID 29119051, 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 (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. USP54 is a potential therapeutic target in castration-resistant prostate cancer.
      Title: USP54 is a potential therapeutic target in castration-resistant prostate cancer.
    2. we have demonstrated that USP54 is overexpressed in colon CSCs and promotes both colon carcinoma and melanoma progression.
      Title: The deubiquitinase USP54 is overexpressed in colorectal cancer stem cells and promotes intestinal tumorigenesis.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37318

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    inactive ubiquitin carboxyl-terminal hydrolase 54
    Names
    inactive ubiquitin-specific peptidase 54
    ubiquitin specific protease 54
    ubiquitin specific proteinase 54

    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_001320437.2 → NP_001307366.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK127267, AK302598, AL359074, BC064967, DA327288, DC322498
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (2) summary
      cd02257
      Location:32 → 349
      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 ...
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    2. NM_001320441.2 → NP_001307370.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK302598, AL359074, DC322498
      UniProtKB/TrEMBL
      B7Z7X1
      Related
      ENSP00000510416.1, ENST00000687418.1
      Conserved Domains (3) summary
      cd02257
      Location:120 → 349
      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 ...
      cl02553
      Location:40 → 176
      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 ...
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    3. NM_001350995.2 → NP_001337924.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC073389, AK127267, AK302598, AL359074, BC026037, BC064967
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    4. NM_001378208.1 → NP_001365137.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    5. NM_001378209.1 → NP_001365138.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    6. NM_001378210.1 → NP_001365139.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    7. NM_001391941.1 → NP_001378870.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 371
      UCH; Ubiquitin carboxyl-terminal hydrolase

    8. NM_001391942.1 → NP_001378871.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    9. NM_001391945.1 → NP_001378874.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    10. NM_001391946.1 → NP_001378875.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    11. NM_001391947.1 → NP_001378876.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    12. NM_001391948.1 → NP_001378877.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    13. NM_001391949.1 → NP_001378878.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      Consensus CDS
      CCDS91265.1
      UniProtKB/TrEMBL
      A0A7P0T9K1, A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    14. NM_001391950.1 → NP_001378879.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    15. NM_001391951.1 → NP_001378880.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 128
      UCH; Ubiquitin carboxyl-terminal hydrolase

    16. NM_001391952.1 → NP_001378881.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      Consensus CDS
      CCDS91265.1
      UniProtKB/TrEMBL
      A0A7P0T9K1, A0A8I5KTP4
      Related
      ENSP00000505692.1, ENST00000681793.1
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    17. NM_001391953.1 → NP_001378882.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      Consensus CDS
      CCDS7329.2
      UniProtKB/Swiss-Prot
      A1L4Q4, A3KFK3, A3KFK5, A3KFK6, A3KFK7, A6PVS4, A6PVS5, A6PVS6, A6PVS7, B3KVY1, B9ZVM1, Q5F2F4, Q6P1N6, Q6ZSP1, Q6ZSR1, Q6ZTM0, Q70EL1, Q8N1X2
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Related
      ENSP00000345216.4, ENST00000339859.8
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    18. NM_001391954.1 → NP_001378883.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    19. NM_001391955.1 → NP_001378884.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL359074
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    20. NM_001391956.1 → NP_001378885.1  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL359074
      Consensus CDS
      CCDS7329.2
      UniProtKB/Swiss-Prot
      A1L4Q4, A3KFK3, A3KFK5, A3KFK6, A3KFK7, A6PVS4, A6PVS5, A6PVS6, A6PVS7, B3KVY1, B9ZVM1, Q5F2F4, Q6P1N6, Q6ZSP1, Q6ZSR1, Q6ZTM0, Q70EL1, Q8N1X2
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Related
      ENSP00000510226.1, ENST00000687698.1
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    21. NM_152586.4 → NP_689799.3  inactive ubiquitin carboxyl-terminal hydrolase 54 isoform 1

      See identical proteins and their annotated locations for NP_689799.3

      Status: VALIDATED

      Source sequence(s)
      AC073389, AL359074
      Consensus CDS
      CCDS7329.2
      UniProtKB/Swiss-Prot
      A1L4Q4, A3KFK3, A3KFK5, A3KFK6, A3KFK7, A6PVS4, A6PVS5, A6PVS6, A6PVS7, B3KVY1, B9ZVM1, Q5F2F4, Q6P1N6, Q6ZSP1, Q6ZSR1, Q6ZTM0, Q70EL1, Q8N1X2
      UniProtKB/TrEMBL
      A0A8I5KTP4
      Conserved Domains (1) summary
      pfam00443
      Location:32 → 349
      UCH; Ubiquitin carboxyl-terminal hydrolase

    RNA

    1. NR_135249.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK302598, AL359074, BC064967, BC110845, DC322498

    2. NR_135250.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK127267, AL359074, BC064967
      Related
      ENST00000497106.5

    3. NR_146997.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK302598, AL359074, BC026037, BC064967, BC110845, DA416496, DC322498

    4. NR_146998.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK302598, AL359074, BC026037, BC064967, BC110845, BC130633, DA416496, DC322498
      Related
      ENST00000422491.7

    5. NR_165442.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL359074
      Related
      ENST00000691043.1

    6. NR_165443.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL359074
      Related
      ENST00000693251.1

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      73497538..73625981 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      74368953..74497405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q70EL1.4 GenPept UniProtKB/Swiss-Prot:Q70EL1

    Gene LinkOut

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

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