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    USP53 ubiquitin specific peptidase 53 [ Homo sapiens (human) ]

    Gene ID: 54532, updated on 2-Nov-2024

    Summary

    Official Symbol
    USP53provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 53provided by HGNC
    Primary source
    HGNC:HGNC:29255
    See related
    Ensembl:ENSG00000145390 MIM:617431; AllianceGenome:HGNC:29255
    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
    PFIC7
    Summary
    Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in response to auditory stimulus and sensory perception of sound. Predicted to act upstream of or within action potential; epithelial cell apoptotic process; and outer hair cell apoptotic process. Located in bicellular tight junction. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 25.2), colon (RPKM 12.3) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See USP53 in Genome Data Viewer
    Location:
    4q26
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (119212601..119295518)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (122517672..122600620)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (120133868..120216673)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379404 Neighboring gene myozenin 2 Neighboring gene uncharacterized LOC101929762 Neighboring gene mitochondrial ribosomal protein L42 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:120130431-120131630 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:120132786-120133360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15654 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:120133934-120134507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21855 Neighboring gene allregulin Neighboring gene fatty acid binding protein 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp781E1417

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT 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 action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in epithelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outer hair cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein deubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to auditory stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in bicellular tight junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cellular_component ND
    No biological Data available
    more info
     

    General protein information

    Preferred Names
    inactive ubiquitin carboxyl-terminal hydrolase 53
    Names
    inactive ubiquitin-specific peptidase 53
    ubiquitin specific protease 53
    ubiquitin specific proteinase 53

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001371395.1NP_001358324.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Consensus CDS
      CCDS43265.1
      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
      Related
      ENSP00000509606.1, ENST00000692078.1
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase
    2. NM_001371396.1NP_001358325.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase
    3. NM_001371397.1NP_001358326.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Consensus CDS
      CCDS93614.1
      UniProtKB/TrEMBL
      A0A8I5KT61, A0A8J9FKG6
      Related
      ENSP00000274030.6, ENST00000274030.11
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase
    4. NM_001371398.1NP_001358327.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Consensus CDS
      CCDS93614.1
      UniProtKB/TrEMBL
      A0A8I5KT61, A0A8J9FKG6
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase
    5. NM_001371399.1NP_001358328.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Consensus CDS
      CCDS43265.1
      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
      Related
      ENSP00000409906.1, ENST00000450251.6
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase
    6. NM_001389658.1NP_001376587.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Consensus CDS
      CCDS43265.1
      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase
    7. NM_001389659.1NP_001376588.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Consensus CDS
      CCDS43265.1
      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase
    8. NM_001389660.1NP_001376589.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Conserved Domains (1) summary
      pfam00443
      Location:31251
      UCH; Ubiquitin carboxyl-terminal hydrolase
    9. NM_001389661.1NP_001376590.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase
    10. NM_001389662.1NP_001376591.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Conserved Domains (1) summary
      cd02257
      Location:3232
      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 ...
    11. NM_001389663.1NP_001376592.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Conserved Domains (1) summary
      cd02257
      Location:3232
      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 ...
    12. NM_001389664.1NP_001376593.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Conserved Domains (1) summary
      cd02257
      Location:3232
      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 ...
    13. NM_001389665.1NP_001376594.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Conserved Domains (1) summary
      cd02257
      Location:3232
      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 ...
    14. NM_001389666.1NP_001376595.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC092656
      UniProtKB/TrEMBL
      A0A8I5KT61
      Conserved Domains (1) summary
      cd02257
      Location:3232
      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 ...
    15. NM_001389667.1NP_001376596.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC092656
      Conserved Domains (1) summary
      cd02257
      Location:3232
      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 ...
    16. NM_019050.3NP_061923.2  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 1

      See identical proteins and their annotated locations for NP_061923.2

      Status: VALIDATED

      Source sequence(s)
      AB037771, AK022799, BQ019723, BX648339, CD721951, CR749490, DA859085, DA886370
      Consensus CDS
      CCDS43265.1
      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      119212601..119295518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008313.2XP_016863802.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase
    2. XM_047415829.1XP_047271785.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
    3. XM_047415828.1XP_047271784.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
    4. XM_047415834.1XP_047271790.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X5

      UniProtKB/TrEMBL
      A0A8J9FKG6
    5. XM_047415837.1XP_047271793.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X7

    6. XM_047415830.1XP_047271786.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X2

    7. XM_047415832.1XP_047271788.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X3

    8. XM_047415833.1XP_047271789.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X4

    9. XM_005263077.5XP_005263134.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X5

      UniProtKB/TrEMBL
      A0A8I5KT61, A0A8J9FKG6
      Related
      ENSP00000509357.1, ENST00000688980.1
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase
    10. XM_047415836.1XP_047271792.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X7

    11. XM_005263075.4XP_005263132.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X2

      Conserved Domains (1) summary
      pfam00443
      Location:31251
      UCH; Ubiquitin carboxyl-terminal hydrolase
    12. XM_047415831.1XP_047271787.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X2

    13. XM_047415835.1XP_047271791.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X6

    14. XM_047415826.1XP_047271782.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
    15. XM_011532037.3XP_011530339.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      See identical proteins and their annotated locations for XP_011530339.1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase
    16. XM_047415827.1XP_047271783.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
    17. XM_017008314.2XP_016863803.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
      Conserved Domains (1) summary
      pfam00443
      Location:31348
      UCH; Ubiquitin carboxyl-terminal hydrolase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      122517672..122600620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350251.1XP_054206226.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
    2. XM_054350255.1XP_054206230.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
    3. XM_054350256.1XP_054206231.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
    4. XM_054350263.1XP_054206238.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X5

      UniProtKB/TrEMBL
      A0A8J9FKG6
    5. XM_054350266.1XP_054206241.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X7

    6. XM_054350258.1XP_054206233.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X2

    7. XM_054350260.1XP_054206235.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X3

    8. XM_054350261.1XP_054206236.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X4

    9. XM_054350262.1XP_054206237.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X5

      UniProtKB/TrEMBL
      A0A8J9FKG6
    10. XM_054350265.1XP_054206240.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X7

    11. XM_054350257.1XP_054206232.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X2

    12. XM_054350259.1XP_054206234.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X2

    13. XM_054350264.1XP_054206239.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X6

    14. XM_054350253.1XP_054206228.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
    15. XM_054350250.1XP_054206225.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
    16. XM_054350254.1XP_054206229.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7
    17. XM_054350252.1XP_054206227.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1

      UniProtKB/Swiss-Prot
      Q68DA5, Q70EK8, Q8WVQ5, Q9P2J7