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

Gene ID: 9097, updated on 6-Jan-2019

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
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
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

Genomic context

See USP14 in Genome Data Viewer
Location:
18p11.32
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (158483..213739)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (158483..213739)

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 THO complex 1 Neighboring gene collectin subfamily member 12 Neighboring gene uncharacterized LOC107985155

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
    Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
endopeptidase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteasome binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tRNA guanylyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of ER-associated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
regulation of chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of proteasomal protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
tRNA 5'-end processing IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
proteasome complex IEA
Inferred from Electronic Annotation
more info
 
synapse 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)

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_001037334.1NP_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, BC003556, BG717018, BU161860, CA438203, CR976282
    Consensus CDS
    CCDS32781.1
    UniProtKB/Swiss-Prot
    P54578
    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
    P54578
    Related
    ENSP00000261601.6, ENST00000261601.7
    Conserved Domains (2) summary
    smart00213
    Location:574
    UBQ; Ubiquitin homologues
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    158483..213739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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