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    USP14 ubiquitin specific peptidase 14 [ Homo sapiens (human) ]

    Gene ID: 9097, updated on 3-Nov-2024

    Summary

    Official Symbol
    USP14provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 14provided by HGNC
    Primary source
    HGNC:HGNC:12612
    See related
    Ensembl:ENSG00000101557 MIM:607274; AllianceGenome:HGNC:12612
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TGT; Ubp6
    Summary
    This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 16.7), prostate (RPKM 15.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See USP14 in Genome Data Viewer
    Location:
    18p11.32
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (158557..214629)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (312304..368380)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (158557..214629)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene Rho associated coiled-coil containing protein kinase 1 pseudogene 1 Neighboring gene microRNA 8078 Neighboring gene uncharacterized LOC105371951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9237 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:185973-186474 Neighboring gene THO complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9238 Neighboring gene collectin subfamily member 12 Neighboring gene uncharacterized LOC107985155 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:394012-395211 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:419844-420037 Neighboring gene OCT4 hESC enhancer GRCh37_chr18:420584-421135 Neighboring gene Sharpr-MPRA regulatory region 14658 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:505812-505991 Neighboring gene long intergenic non-protein coding RNA 1925

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables K63-linked deubiquitinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables endopeptidase inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables proteasome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables proteasome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in presynaptic cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    part_of proteasome complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 14
    Names
    deubiquitinating enzyme 14
    tRNA-guanine transglycosylase, 60-kD subunit
    ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
    ubiquitin specific protease 14 (tRNA-guanine transglycosylase)
    ubiquitin thioesterase 14
    ubiquitin thiolesterase 14
    ubiquitin-specific processing protease 14
    NP_001032411.1
    NP_005142.1

    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_001037334.2NP_001032411.1  ubiquitin carboxyl-terminal hydrolase 14 isoform b

      See identical proteins and their annotated locations for NP_001032411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, compared to variant 1, but maintains the reading frame. The resulting protein (isoform b) is shorter than isoform a.
      Source sequence(s)
      AK098497, AP000845, BC003556, BG717018, BU161860, CA438203, CR976282
      Consensus CDS
      CCDS32781.1
      UniProtKB/TrEMBL
      A6NJA2
      Related
      ENSP00000464447.1, ENST00000582707.5
      Conserved Domains (3) summary
      cd02657
      Location:71446
      Peptidase_C19A; A subfamily of 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 ...
      pfam00443
      Location:69445
      UCH; Ubiquitin carboxyl-terminal hydrolase
      cl00155
      Location:568
      UBQ; Ubiquitin-like proteins
    2. NM_005151.4NP_005142.1  ubiquitin carboxyl-terminal hydrolase 14 isoform a

      See identical proteins and their annotated locations for NP_005142.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK098497, AP000845, BC003556, BU161860, CA438203
      Consensus CDS
      CCDS32780.1
      UniProtKB/Swiss-Prot
      B7Z4N8, J3QRZ5, P54578, Q53XY5
      UniProtKB/TrEMBL
      B2RD79
      Related
      ENSP00000261601.6, ENST00000261601.8
      Conserved Domains (2) summary
      cd02657
      Location:106481
      Peptidase_C19A; A subfamily of 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 ...
      cd16104
      Location:476
      Ubl_USP14_like; ubiquitin-like (Ubl) domain found in ubiquitin carboxyl-terminal hydrolase 14 (USP14) and similar proteins

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      158557..214629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      312304..368380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)