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

Gene ID: 9101, updated on 17-Jun-2019

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
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

Genomic context

See USP8 in Genome Data Viewer
Location:
15q21.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (50424359..50514421)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50716579..50793280)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene microRNA 4712 Neighboring gene adenosylhomocysteinase pseudogene 7 Neighboring gene RNA, 5S ribosomal pseudogene 395 Neighboring gene ribosomal protein S20 pseudogene 34 Neighboring gene uncharacterized LOC107984741 Neighboring gene ubiquitin specific peptidase 50 Neighboring gene transient receptor potential cation channel subfamily M member 7 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 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...
  • Downregulation of ERBB2 signaling, organism-specific biosystem (from REACTOME)
    Downregulation of ERBB2 signaling, organism-specific biosystemSignaling by ERBB2 can be downregulated by ubiquitination and subsequent proteasome-dependent degradation of ERBB2 or activated ERBB2 heterodimers. In addition, protein tyrosine phosphatases that dep...
  • Downregulation of ERBB2:ERBB3 signaling, organism-specific biosystem (from REACTOME)
    Downregulation of ERBB2:ERBB3 signaling, organism-specific biosystemLevel of plasma membrane ERBB3 is regulated by E3 ubiquitin ligase RNF41 (also known as NRDP1), which binds and ubiquitinates both inactive and activated ERBB3, targeting it for degradation (Cao et a...
  • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • ErbB2/ErbB3 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    ErbB2/ErbB3 signaling events, organism-specific biosystem
    ErbB2/ErbB3 signaling events
  • Internalization of ErbB1, organism-specific biosystem (from Pathway Interaction Database)
    Internalization of ErbB1, organism-specific biosystem
    Internalization of ErbB1
  • 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.
  • Mitophagy - animal, organism-specific biosystem (from KEGG)
    Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Mitophagy - animal, conserved biosystem (from KEGG)
    Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Negative regulation of MET activity, organism-specific biosystem (from REACTOME)
    Negative regulation of MET activity, organism-specific biosystemSignaling by MET receptor is negatively regulated mainly by MET receptor dephosphorylation or MET receptor degradation. Protein tyrosine phosphatase PTPRJ dephosphorylates MET tyrosine residue Y1349,...
  • 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...
  • Regulation of FZD by ubiquitination, organism-specific biosystem (from REACTOME)
    Regulation of FZD by ubiquitination, organism-specific biosystemWNT responsiveness is influenced by expression levels of FZD and LRP proteins. Levels of these receptors at the cell surface are regulated in part by endocytosis, but the mechanisms are not fully el...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
    Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
  • Signaling by MET, organism-specific biosystem (from REACTOME)
    Signaling by MET, organism-specific biosystemMET is a receptor tyrosine kinase (RTK) (Cooper et al. 1984, Park et al. 1984) activated by binding to its ligand, Hepatocyte growth factor/Scatter factor (HGF/SF) (Bottaro et al. 1991, Naldini et al...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
  • 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

Clone Names

  • FLJ34456, KIAA0055, MGC129718

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
cysteine-type endopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to dexamethasone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to nerve growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein K48-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K48-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K63-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K63-linked deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
regulation of protein catabolic process at postsynapse, modulating synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
regulation of protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
midbody IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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
XP_006720824.1
XP_006720825.1
XP_011520495.1
XP_016878207.1
XP_016878208.1
XP_016878209.1
XP_016878210.1
XP_016878211.1
XP_024305866.1

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.

Genomic

  1. NG_047101.1 RefSeqGene

    Range
    5001..81707
    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
    P40818
    UniProtKB/TrEMBL
    A0A024R5S4
    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/Swiss-Prot
    P40818
    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
    P40818
    UniProtKB/TrEMBL
    A0A024R5S4, 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    50424359..50514421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720761.3XP_006720824.1  ubiquitin carboxyl-terminal hydrolase 8 isoform X1

    See identical proteins and their annotated locations for XP_006720824.1

    UniProtKB/Swiss-Prot
    P40818
    UniProtKB/TrEMBL
    A0A024R5S4
    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. XM_006720762.3XP_006720825.1  ubiquitin carboxyl-terminal hydrolase 8 isoform X2

    Conserved Domains (6) summary
    smart00450
    Location:199310
    RHOD; Rhodanese Homology Domain
    cd02674
    Location:7491078
    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:375547
    tolA_full; TolA protein
    pfam00443
    Location:7471077
    UCH; Ubiquitin carboxyl-terminal hydrolase
    pfam08969
    Location:6115
    USP8_dimer; USP8 dimerization domain
    pfam10211
    Location:470519
    Ax_dynein_light; Axonemal dynein light chain
  3. XM_011522193.3XP_011520495.1  ubiquitin carboxyl-terminal hydrolase 8 isoform X1

    See identical proteins and their annotated locations for XP_011520495.1

    UniProtKB/Swiss-Prot
    P40818
    UniProtKB/TrEMBL
    A0A024R5S4
    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
  4. XM_017022720.2XP_016878209.1  ubiquitin carboxyl-terminal hydrolase 8 isoform X2

    Conserved Domains (6) summary
    smart00450
    Location:199310
    RHOD; Rhodanese Homology Domain
    cd02674
    Location:7491078
    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:375547
    tolA_full; TolA protein
    pfam00443
    Location:7471077
    UCH; Ubiquitin carboxyl-terminal hydrolase
    pfam08969
    Location:6115
    USP8_dimer; USP8 dimerization domain
    pfam10211
    Location:470519
    Ax_dynein_light; Axonemal dynein light chain
  5. XM_017022718.1XP_016878207.1  ubiquitin carboxyl-terminal hydrolase 8 isoform X2

    Conserved Domains (6) summary
    smart00450
    Location:199310
    RHOD; Rhodanese Homology Domain
    cd02674
    Location:7491078
    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:375547
    tolA_full; TolA protein
    pfam00443
    Location:7471077
    UCH; Ubiquitin carboxyl-terminal hydrolase
    pfam08969
    Location:6115
    USP8_dimer; USP8 dimerization domain
    pfam10211
    Location:470519
    Ax_dynein_light; Axonemal dynein light chain
  6. XM_017022721.2XP_016878210.1  ubiquitin carboxyl-terminal hydrolase 8 isoform X3

    Conserved Domains (4) summary
    smart00450
    Location:9120
    RHOD; Rhodanese Homology Domain
    TIGR02794
    Location:185357
    tolA_full; TolA protein
    pfam00443
    Location:587916
    UCH; Ubiquitin carboxyl-terminal hydrolase
    pfam10243
    Location:284456
    MIP-T3; Microtubule-binding protein MIP-T3
  7. XM_017022722.1XP_016878211.1  ubiquitin carboxyl-terminal hydrolase 8 isoform X3

    Conserved Domains (4) summary
    smart00450
    Location:9120
    RHOD; Rhodanese Homology Domain
    TIGR02794
    Location:185357
    tolA_full; TolA protein
    pfam00443
    Location:587916
    UCH; Ubiquitin carboxyl-terminal hydrolase
    pfam10243
    Location:284456
    MIP-T3; Microtubule-binding protein MIP-T3
  8. XM_017022719.2XP_016878208.1  ubiquitin carboxyl-terminal hydrolase 8 isoform X2

    Conserved Domains (6) summary
    smart00450
    Location:199310
    RHOD; Rhodanese Homology Domain
    cd02674
    Location:7491078
    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:375547
    tolA_full; TolA protein
    pfam00443
    Location:7471077
    UCH; Ubiquitin carboxyl-terminal hydrolase
    pfam08969
    Location:6115
    USP8_dimer; USP8 dimerization domain
    pfam10211
    Location:470519
    Ax_dynein_light; Axonemal dynein light chain
  9. XM_024450098.1XP_024305866.1  ubiquitin carboxyl-terminal hydrolase 8 isoform X3

    Conserved Domains (4) summary
    smart00450
    Location:9120
    RHOD; Rhodanese Homology Domain
    TIGR02794
    Location:185357
    tolA_full; TolA protein
    pfam00443
    Location:587916
    UCH; Ubiquitin carboxyl-terminal hydrolase
    pfam10243
    Location:284456
    MIP-T3; Microtubule-binding protein MIP-T3

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.
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