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

    Gene ID: 159195, updated on 10-Dec-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
    Enables cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination and proteolysis. [provided by Alliance of Genome Resources, Dec 2024]
    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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    See USP54 in Genome Data Viewer
    Location:
    10q22.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73497538..73625981, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74368953..74497405, complement)
    RS_2024_09 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

    Bibliography

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    Related articles in PubMed

    1. USP54 is a potential therapeutic target in castration-resistant prostate cancer. Zhou C, et al. BMC Urol, 2024 Feb 6. PMID 38321455, Free PMC Article
    2. 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
    3. Centrosomal protein 120 promotes centrosome amplification and gastric cancer progression via USP54-mediated deubiquitination of PLK4. Zhang C, et al. iScience, 2023 Jan 20. PMID 36590171, Free PMC Article
    4. Ubiquitin-specific protease 54 regulates GLUT1-mediated aerobic glycolysis to inhibit lung adenocarcinoma progression by modifying p53 degradation. Chen L, et al. Oncogene, 2024 Jun. PMID 38744954
    5. Ab initio protein modelling reveals novel human MIT domains. Rigden DJ, et al. FEBS Lett, 2009 Mar 4. PMID 19302785

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ubiquitin-specific protease 54 regulates GLUT1-mediated aerobic glycolysis to inhibit lung adenocarcinoma progression by modifying p53 degradation.
      Title: Ubiquitin-specific protease 54 regulates GLUT1-mediated aerobic glycolysis to inhibit lung adenocarcinoma progression by modifying p53 degradation.
    2. USP54 is a potential therapeutic target in castration-resistant prostate cancer.
      Title: USP54 is a potential therapeutic target in castration-resistant prostate cancer.
    3. 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.
    4. 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)

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    		  

    General protein information

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    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 54
    Names
    inactive ubiquitin carboxyl-terminal hydrolase 54
    inactive ubiquitin-specific peptidase 54
    ubiquitin specific protease 54
    ubiquitin specific proteinase 54
    NP_001307366.1
    NP_001307370.1
    NP_001337924.1
    NP_001365137.1
    NP_001365138.1
    NP_001365139.1
    NP_001378870.1
    NP_001378871.1
    NP_001378874.1
    NP_001378875.1
    NP_001378876.1
    NP_001378877.1
    NP_001378878.1
    NP_001378879.1
    NP_001378880.1
    NP_001378881.1
    NP_001378882.1
    NP_001378883.1
    NP_001378884.1
    NP_001378885.1
    NP_689799.3

    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  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  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  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  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  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  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  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  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  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  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  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  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  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  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  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  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  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  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  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  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  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_2024_08

    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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