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    USP6 ubiquitin specific peptidase 6 [ Homo sapiens (human) ]

    Gene ID: 9098, updated on 27-Nov-2024

    Summary

    Official Symbol
    USP6provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 6provided by HGNC
    Primary source
    HGNC:HGNC:12629
    See related
    Ensembl:ENSG00000129204 MIM:604334; AllianceGenome:HGNC:12629
    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
    HRP1; TRE2; TRE17; Tre-2; TRESMCR; USP6-short
    Summary
    Enables cysteine-type deubiquitinase activity. Involved in protein deubiquitination and regulation of postsynaptic neurotransmitter receptor internalization. Located in plasma membrane and recycling endosome. Is active in glutamatergic synapse and postsynaptic density, intracellular component. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 9.4), ovary (RPKM 2.5) and 9 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See USP6 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (5116032..5174991)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (5009412..5068339)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (5019327..5078286)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4981230-4982101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11566 Neighboring gene ZFP3 zinc finger protein Neighboring gene ZNF232 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:5033804-5034304 Neighboring gene zinc finger protein 232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:5040130-5040801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:5040802-5041472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:5042145-5042815 Neighboring gene MPRA-validated peak2704 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8065 Neighboring gene zinc finger protein 594 Neighboring gene ZNF594 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8066 Neighboring gene MPRA-validated peak2705 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11568 Neighboring gene SLP adaptor and CSK interacting membrane protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11569 Neighboring gene Sharpr-MPRA regulatory region 14928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:5157813-5158318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8067 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5187866-5188384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8068 Neighboring gene rabaptin, RAB GTPase binding effector protein 1 Neighboring gene uncharacterized LOC105371505 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:5265177-5265872

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ubiquitin specific peptidase 6 (USP6) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 nucleic acid binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic density, intracellular component IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic density, intracellular component IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 6
    Names
    RN-tre
    TBC1D3 and USP32 fusion
    deubiquitinating enzyme 6
    hyperpolymorphic gene 1
    proto-oncogene TRE-2
    ubiquitin specific peptidase 6 (Tre-2 oncogene)
    ubiquitin specific protease 6 (Tre-2 oncogene)
    ubiquitin thioesterase 6
    ubiquitin thiolesterase 6
    ubiquitin-specific protease USP6
    ubiquitin-specific-processing protease 6
    NP_001291213.1
    NP_004496.2
    XP_011522352.1
    XP_011522353.1
    XP_011522354.1
    XP_011522355.1
    XP_011522356.1
    XP_011522357.1
    XP_011522358.1
    XP_011522360.1
    XP_011522361.1
    XP_047292974.1
    XP_054173695.1
    XP_054173696.1
    XP_054173697.1
    XP_054173698.1
    XP_054173699.1
    XP_054173700.1
    XP_054173701.1
    XP_054173702.1
    XP_054173703.1

    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_001304284.2NP_001291213.1  ubiquitin carboxyl-terminal hydrolase 6

      See identical proteins and their annotated locations for NP_001291213.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC012146
      Consensus CDS
      CCDS11069.2
      UniProtKB/Swiss-Prot
      B9A6N0, P35125, Q15634, Q86WP6, Q8IWT4
      Related
      ENSP00000460380.1, ENST00000574788.6
      Conserved Domains (4) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG5560
      Location:5281114
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cl02553
      Location:10231367
      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 ...
      pfam15380
      Location:332407
      DUF4607; Domain of unknown function (DUF4607)
    2. NM_004505.4NP_004496.2  ubiquitin carboxyl-terminal hydrolase 6

      See identical proteins and their annotated locations for NP_004496.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC012146
      Consensus CDS
      CCDS11069.2
      UniProtKB/Swiss-Prot
      B9A6N0, P35125, Q15634, Q86WP6, Q8IWT4
      Related
      ENSP00000250066.6, ENST00000250066.6
      Conserved Domains (4) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG5560
      Location:5281114
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cl02553
      Location:10231367
      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 ...
      pfam15380
      Location:332407
      DUF4607; Domain of unknown function (DUF4607)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      5116032..5174991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524059.3XP_011522361.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X4

      UniProtKB/Swiss-Prot
      P35125
      Related
      ENSP00000461581.1, ENST00000572949.5
      Conserved Domains (3) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl02553
      Location:533723
      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 ...
      pfam15380
      Location:332407
      DUF4607; Domain of unknown function (DUF4607)
    2. XM_011524058.3XP_011522360.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X3

      Conserved Domains (3) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl02553
      Location:533723
      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 ...
      pfam15380
      Location:332407
      DUF4607; Domain of unknown function (DUF4607)
    3. XM_011524050.2XP_011522352.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

      See identical proteins and their annotated locations for XP_011522352.1

      UniProtKB/Swiss-Prot
      B9A6N0, P35125, Q15634, Q86WP6, Q8IWT4
      Conserved Domains (4) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG5560
      Location:5281114
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cl02553
      Location:10231367
      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 ...
      pfam15380
      Location:332407
      DUF4607; Domain of unknown function (DUF4607)
    4. XM_047437018.1XP_047292974.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X2

    5. XM_011524055.3XP_011522357.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

      See identical proteins and their annotated locations for XP_011522357.1

      UniProtKB/Swiss-Prot
      B9A6N0, P35125, Q15634, Q86WP6, Q8IWT4
      Conserved Domains (4) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG5560
      Location:5281114
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cl02553
      Location:10231367
      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 ...
      pfam15380
      Location:332407
      DUF4607; Domain of unknown function (DUF4607)
    6. XM_011524053.3XP_011522355.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

      See identical proteins and their annotated locations for XP_011522355.1

      UniProtKB/Swiss-Prot
      B9A6N0, P35125, Q15634, Q86WP6, Q8IWT4
      Conserved Domains (4) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG5560
      Location:5281114
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cl02553
      Location:10231367
      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 ...
      pfam15380
      Location:332407
      DUF4607; Domain of unknown function (DUF4607)
    7. XM_011524051.3XP_011522353.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

      See identical proteins and their annotated locations for XP_011522353.1

      UniProtKB/Swiss-Prot
      B9A6N0, P35125, Q15634, Q86WP6, Q8IWT4
      Conserved Domains (4) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG5560
      Location:5281114
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cl02553
      Location:10231367
      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 ...
      pfam15380
      Location:332407
      DUF4607; Domain of unknown function (DUF4607)
    8. XM_011524054.3XP_011522356.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

      See identical proteins and their annotated locations for XP_011522356.1

      UniProtKB/Swiss-Prot
      B9A6N0, P35125, Q15634, Q86WP6, Q8IWT4
      Conserved Domains (4) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG5560
      Location:5281114
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cl02553
      Location:10231367
      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 ...
      pfam15380
      Location:332407
      DUF4607; Domain of unknown function (DUF4607)
    9. XM_011524052.3XP_011522354.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

      See identical proteins and their annotated locations for XP_011522354.1

      UniProtKB/Swiss-Prot
      B9A6N0, P35125, Q15634, Q86WP6, Q8IWT4
      Conserved Domains (4) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG5560
      Location:5281114
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cl02553
      Location:10231367
      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 ...
      pfam15380
      Location:332407
      DUF4607; Domain of unknown function (DUF4607)
    10. XM_011524056.3XP_011522358.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

      See identical proteins and their annotated locations for XP_011522358.1

      UniProtKB/Swiss-Prot
      B9A6N0, P35125, Q15634, Q86WP6, Q8IWT4
      Conserved Domains (4) summary
      smart00164
      Location:97312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG5560
      Location:5281114
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cl02553
      Location:10231367
      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 ...
      pfam15380
      Location:332407
      DUF4607; Domain of unknown function (DUF4607)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      5009412..5068339
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317728.1XP_054173703.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X4

    2. XM_054317727.1XP_054173702.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X3

    3. XM_054317720.1XP_054173695.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

    4. XM_054317726.1XP_054173701.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X2

    5. XM_054317724.1XP_054173699.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

    6. XM_054317722.1XP_054173697.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

    7. XM_054317721.1XP_054173696.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

    8. XM_054317723.1XP_054173698.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

    9. XM_054317725.1XP_054173700.1  ubiquitin carboxyl-terminal hydrolase 6 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_005152.1: Suppressed sequence

      Description
      NM_005152.1: This RefSeq was permanently suppressed because it contains the wrong CDS and is a nonsense-mediated mRNA decay (NMD) candidate.