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    USP8 ubiquitin specific peptidase 8 [ Homo sapiens (human) ]

    Gene ID: 9101, updated on 27-Nov-2024

    Summary

    Official Symbol
    USP8provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 8provided by HGNC
    Primary source
    HGNC:HGNC:12631
    See related
    Ensembl:ENSG00000138592 MIM:603158; AllianceGenome:HGNC:12631
    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
    UBPY; PITA4; SPG59; HumORF8
    Summary
    This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Expression
    Ubiquitous expression in testis (RPKM 16.5), thyroid (RPKM 12.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See USP8 in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (50424405..50514421)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (48232513..48322500)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50716602..50806618)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr15:50674110-50674285 Neighboring gene microRNA 4712 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:50676534-50676699 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:50715425-50716421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9393 Neighboring gene adenosylhomocysteinase pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9395 Neighboring gene RNA, 5S ribosomal pseudogene 395 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:50776274-50776376 Neighboring gene ribosomal protein S20 pseudogene 34 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:50801331-50801565 Neighboring gene ubiquitin specific peptidase 50 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:50843324-50843838 Neighboring gene transient receptor potential cation channel subfamily M member 7 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:50884350-50885549 Neighboring gene uncharacterized LOC128092252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50969254-50969754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50969755-50970255 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:50978082-50978946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9397 Neighboring gene RNA, 7SL, cytoplasmic 354, pseudogene

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ34456, KIAA0055, MGC129718

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to nerve growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within mitotic cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lysosomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of amyloid fibril formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein K48-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein K63-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein catabolic process at postsynapse, modulating synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in midbody IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 8
    Names
    deubiquitinating enzyme 8
    ubiquitin isopeptidase Y
    ubiquitin thiolesterase 8
    ubiquitin-specific-processing protease 8
    NP_001122082.1
    NP_001269978.1
    NP_005145.3

    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.

    Genomic

    1. NG_047101.2 RefSeqGene

      Range
      5002..95018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128610.3NP_001122082.1  ubiquitin carboxyl-terminal hydrolase 8 isoform a

      See identical proteins and their annotated locations for NP_001122082.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      AA399951, AA399952, AC012170, AI276208, BM751645, D29956
      Consensus CDS
      CCDS10137.1
      UniProtKB/Swiss-Prot
      B4DKA8, P40818, Q2TB31, Q7Z3U2, Q86VA0, Q8IWI7
      UniProtKB/TrEMBL
      A8K8N5
      Related
      ENSP00000379721.3, ENST00000396444.7
      Conserved Domains (5) summary
      smart00450
      Location:199310
      RHOD; Rhodanese Homology Domain
      TIGR02794
      Location:375547
      tolA_full; TolA protein
      pfam00443
      Location:7771106
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam08969
      Location:8115
      USP8_dimer; USP8 dimerisation domain
      pfam10243
      Location:474646
      MIP-T3; Microtubule-binding protein MIP-T3
    2. NM_001283049.2NP_001269978.1  ubiquitin carboxyl-terminal hydrolase 8 isoform b

      See identical proteins and their annotated locations for NP_001269978.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks three in-frame exons in the coding region compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AA399951, AA399952, AC012170, AI276208, AK296480, BM751645, D29956
      Consensus CDS
      CCDS61632.1
      UniProtKB/TrEMBL
      A8K8N5
      Related
      ENSP00000412682.3, ENST00000425032.7
      Conserved Domains (6) summary
      smart00450
      Location:122233
      RHOD; Rhodanese Homology Domain
      cd02674
      Location:6721001
      Peptidase_C19R; 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 hydrolyze bonds involving the carboxyl ...
      TIGR02794
      Location:298470
      tolA_full; TolA protein
      pfam00443
      Location:6701000
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam08969
      Location:653
      USP8_dimer; USP8 dimerization domain
      pfam10211
      Location:393442
      Ax_dynein_light; Axonemal dynein light chain
    3. NM_005154.5NP_005145.3  ubiquitin carboxyl-terminal hydrolase 8 isoform a

      See identical proteins and their annotated locations for NP_005145.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA399951, AA399952, AC012170, AI276208, AK292400, BM751645, D29956, KF459553
      Consensus CDS
      CCDS10137.1
      UniProtKB/Swiss-Prot
      B4DKA8, P40818, Q2TB31, Q7Z3U2, Q86VA0, Q8IWI7
      UniProtKB/TrEMBL
      A8K8N5
      Related
      ENSP00000302239.4, ENST00000307179.9
      Conserved Domains (5) summary
      smart00450
      Location:199310
      RHOD; Rhodanese Homology Domain
      TIGR02794
      Location:375547
      tolA_full; TolA protein
      pfam00443
      Location:7771106
      UCH; Ubiquitin carboxyl-terminal hydrolase
      pfam08969
      Location:8115
      USP8_dimer; USP8 dimerisation domain
      pfam10243
      Location:474646
      MIP-T3; Microtubule-binding protein MIP-T3

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      50424405..50514421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      48232513..48322500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001128611.1: Suppressed sequence

      Description
      NM_001128611.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.