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

Gene ID: 84749, updated on 23-Nov-2021

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
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
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Genomic context

See USP30 in Genome Data Viewer
Location:
12q24.11
Exon count:
18
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (109023089..109088026)
105.20201022 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 USP30 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 372 Neighboring gene alkB homolog 2, alpha-ketoglutarate dependent dioxygenase Neighboring gene uracil DNA glycosylase

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

Homology

Clone Names

  • FLJ40511, MGC10702

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
enables thiol-dependent deubiquitinase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables thiol-dependent deubiquitinase IDA
Inferred from Direct Assay
more info
PubMed 
enables thiol-dependent deubiquitinase TAS
Traceable Author Statement
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
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 ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_006719716.1
XP_011537196.1
XP_016875537.1
XP_016875538.1
XP_016875539.1
XP_016875540.1
XP_016875541.1
XP_016875542.1
XP_016875543.1
XP_024304995.1
XP_024304996.1

NCBI Reference Sequences (RefSeq)

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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/Swiss-Prot
    Q70CQ3
    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
    UniProtKB/TrEMBL
    A0A024RBM3
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    109023089..109088026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020052.2XP_016875541.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X4

  2. XM_006719653.3XP_006719716.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X7

    See identical proteins and their annotated locations for XP_006719716.1

    UniProtKB/Swiss-Prot
    Q70CQ3
    UniProtKB/TrEMBL
    B3KUS5
    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 ...
  3. XM_011538894.2XP_011537196.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X11

    Conserved Domains (1) summary
    cd02662
    Location:10351
    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 ...
  4. XM_017020048.1XP_016875537.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X1

  5. XM_005253965.4XP_005254022.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X8

    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 ...
  6. XM_024449227.1XP_024304995.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X3

    Conserved Domains (2) summary
    cd02662
    Location:69533
    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:69265
    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 ...
  7. XM_017020049.1XP_016875538.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X2

  8. XM_005253962.3XP_005254019.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X5

    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 ...
  9. XM_017020053.1XP_016875542.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X6

  10. XM_017020054.1XP_016875543.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X10

  11. XM_017020051.2XP_016875540.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X4

  12. XM_017020050.1XP_016875539.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X4

  13. XM_024449228.1XP_024304996.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X9

    Conserved Domains (1) summary
    cd02662
    Location:66408
    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 ...
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