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    USP30 ubiquitin specific peptidase 30 [ Homo sapiens (human) ]

    Gene ID: 84749, updated on 28-Oct-2024

    Summary

    Official Symbol
    USP30provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 30provided by HGNC
    Primary source
    HGNC:HGNC:20065
    See related
    Ensembl:ENSG00000135093 MIM:612492; AllianceGenome:HGNC:20065
    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
    Summary
    USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]
    Expression
    Ubiquitous expression in testis (RPKM 5.7), ovary (RPKM 5.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See USP30 in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109023089..109088023)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (108997903..109062835)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109460894..109525828)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SV2 related protein Neighboring gene RNA, U6 small nuclear 361, pseudogene Neighboring gene uncharacterized LOC105378256 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109490575-109491074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6983 Neighboring gene USP30 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4838 Neighboring gene alkB homolog 2, alpha-ketoglutarate dependent dioxygenase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109548634-109549184 Neighboring gene uracil DNA glycosylase

    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

    Clone Names

    • FLJ40511, MGC10702

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 deubiquitinase activity TAS
    Traceable Author Statement
    more info
     
    enables cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables deubiquitinase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in autophagy of mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in autophagy of mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of mitophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pexophagy TAS
    Traceable Author Statement
    more info
     
    involved_in protein K11-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein K6-linked deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein stability IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 30
    Names
    deubiquitinating enzyme 30
    ub-specific protease 30
    ubiquitin thioesterase 30
    ubiquitin thiolesterase 30
    ubiquitin-specific protease 30
    ubiquitin-specific-processing protease 30
    NP_001288104.1
    NP_116052.2
    XP_005254019.1
    XP_005254022.1
    XP_016875537.1
    XP_016875538.1
    XP_016875539.1
    XP_016875540.1
    XP_016875541.1
    XP_016875542.1
    XP_047285688.1
    XP_047285689.1
    XP_047285690.1
    XP_047285691.1
    XP_054229537.1
    XP_054229538.1
    XP_054229539.1
    XP_054229540.1
    XP_054229541.1
    XP_054229542.1
    XP_054229543.1
    XP_054229544.1
    XP_054229545.1
    XP_054229546.1
    XP_054229547.1
    XP_054229548.1

    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_001301175.2NP_001288104.1  ubiquitin carboxyl-terminal hydrolase 30 isoform 2

      See identical proteins and their annotated locations for NP_001288104.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has a different 5' structure, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC011596, AK097830, AL834278, BX095894
      Consensus CDS
      CCDS76599.1
      UniProtKB/TrEMBL
      B3KUS5
      Related
      ENSP00000376535.2, ENST00000392784.6
      Conserved Domains (2) summary
      cd02662
      Location:38469
      Peptidase_C19F; 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 ...
      cl02553
      Location:38234
      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 ...
    2. NM_032663.5NP_116052.2  ubiquitin carboxyl-terminal hydrolase 30 isoform 1

      See identical proteins and their annotated locations for NP_116052.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC011596, AL834278, BC004868, BX095894, HY127211
      Consensus CDS
      CCDS9123.2
      UniProtKB/Swiss-Prot
      Q70CQ3, Q8WTU7, Q96JX4, Q9BSS3
      Related
      ENSP00000257548.5, ENST00000257548.10
      Conserved Domains (2) summary
      COG5560
      Location:69265
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cd02662
      Location:69500
      Peptidase_C19F; 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 ...

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      109023089..109088023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429732.1XP_047285688.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X3

    2. XM_017020052.3XP_016875541.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X3

    3. XM_017020051.3XP_016875540.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X3

    4. XM_017020048.2XP_016875537.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X1

    5. XM_017020049.2XP_016875538.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X2

    6. XM_005253962.4XP_005254019.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X4

      See identical proteins and their annotated locations for XP_005254019.1

      Conserved Domains (2) summary
      COG5560
      Location:69264
      UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cd02662
      Location:69499
      Peptidase_C19F; 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 ...
    7. XM_017020053.2XP_016875542.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X5

    8. XM_005253965.5XP_005254022.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X7

      See identical proteins and their annotated locations for XP_005254022.1

      Conserved Domains (1) summary
      cd02662
      Location:97439
      Peptidase_C19F; 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 ...
    9. XM_047429734.1XP_047285690.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X8

    10. XM_047429735.1XP_047285691.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X9

    11. XM_047429733.1XP_047285689.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X6

    12. XM_017020050.2XP_016875539.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      108997903..109062835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373566.1XP_054229541.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X3

    2. XM_054373567.1XP_054229542.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X3

    3. XM_054373565.1XP_054229540.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X3

    4. XM_054373562.1XP_054229537.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X1

    5. XM_054373563.1XP_054229538.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X2

    6. XM_054373568.1XP_054229543.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X4

    7. XM_054373569.1XP_054229544.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X5

    8. XM_054373571.1XP_054229546.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X7

    9. XM_054373572.1XP_054229547.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X8

    10. XM_054373573.1XP_054229548.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X9

    11. XM_054373570.1XP_054229545.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X6

    12. XM_054373564.1XP_054229539.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X3