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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
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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

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