U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 54532, updated on 3-Dec-2023

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 thiol-dependent deubiquitinase. Predicted to be involved in response to auditory stimulus and sensory perception of sound. Predicted to act upstream of or within action potential and neuron apoptotic process. Predicted to be located in bicellular tight junction. Predicted to be active in cell-cell junction. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (119212601..119295518)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (122517672..122600620)
105.20220307 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 chromosome 4 open reading frame 3 Neighboring gene fatty acid binding protein 2

Genomic regions, transcripts, and products

Expression

  • 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

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 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_2023_10

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
    A0A8I5KT61, A0A8J9FKG6
  5. XM_047415837.1XP_047271793.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X7

    UniProtKB/TrEMBL
    A0A8I5KT61
  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

    UniProtKB/TrEMBL
    A0A8I5KT61
  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

    UniProtKB/TrEMBL
    A0A8I5KT61
  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
    A0A8I5KT61, A0A8J9FKG6
  5. XM_054350266.1XP_054206241.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X7

    UniProtKB/TrEMBL
    A0A8I5KT61
  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
    A0A8I5KT61, A0A8J9FKG6
  10. XM_054350265.1XP_054206240.1  inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X7

    UniProtKB/TrEMBL
    A0A8I5KT61
  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

    UniProtKB/TrEMBL
    A0A8I5KT61
  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