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Q70CQ3

- UBP30_HUMAN

UniProt

Q70CQ3 - UBP30_HUMAN

Protein

Ubiquitin carboxyl-terminal hydrolase 30

Gene

USP30

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Deubiquitinating enzyme that acts as a key inhibitor of mitophagy by counteracting the action of parkin (PARK2): hydrolyzes ubiquitin attached by parkin on target proteins, such as RHOT1/MIRO1 and TOMM20, thereby blocking parkin's ability to drive mitophagy (PubMed:24896179). Acts as negative regulator of mitochondrial fusion by mediating deubiquitination of MFN1 and MFN2.2 Publications

    Catalytic activityi

    Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).1 Publication

    Enzyme regulationi

    Inhibited by the diterpenoid derivative 15-oxospiramilactone (S3).By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei77 – 771Nucleophile
    Active sitei452 – 4521Proton acceptorPROSITE-ProRule annotation

    GO - Molecular functioni

    1. cysteine-type endopeptidase activity Source: UniProtKB
    2. ubiquitin-specific protease activity Source: UniProtKB
    3. ubiquitin thiolesterase activity Source: UniProtKB

    GO - Biological processi

    1. mitochondrial fusion Source: UniProtKB
    2. mitochondrion degradation Source: UniProtKB
    3. protein deubiquitination Source: UniProtKB
    4. ubiquitin-dependent protein catabolic process Source: InterPro

    Keywords - Molecular functioni

    Hydrolase, Protease, Thiol protease

    Keywords - Biological processi

    Ubl conjugation pathway

    Protein family/group databases

    MEROPSiC19.060.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 30 (EC:3.4.19.12)
    Alternative name(s):
    Deubiquitinating enzyme 30
    Ubiquitin thioesterase 30
    Ubiquitin-specific-processing protease 30
    Short name:
    Ub-specific protease 30
    Gene namesi
    Name:USP30
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:20065. USP30.

    Subcellular locationi

    Mitochondrion outer membrane 2 Publications

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial outer membrane Source: UniProtKB
    3. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion outer membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi28 – 281R → T: No change in mitochondrial subcellular location; when associated with N-30 and N-33. 1 Publication
    Mutagenesisi30 – 301K → N: No effect on subcellular location; when associated with N-28 and N-33. 1 Publication
    Mutagenesisi33 – 331K → N: No effect on subcellular location; when associated with N-28 and N-30. 1 Publication
    Mutagenesisi59 – 646RKKRRK → NNASNN: Loss of mitochondrial subcellular location. Located in the endoplasmic reticulum.
    Mutagenesisi77 – 771C → S: Loss of deubiquitinase activity and impaired ability to inhibit mitophagy. Increased TOMM20 ubiquitination. 2 Publications

    Organism-specific databases

    PharmGKBiPA134971149.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 517517Ubiquitin carboxyl-terminal hydrolase 30PRO_0000080662Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki235 – 235Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
    Cross-linki289 – 289Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

    Post-translational modificationi

    Ubiquitinated by parkin (PARK2) at Lys-235 and Lys-289, leading to its degradation.1 Publication

    Keywords - PTMi

    Isopeptide bond, Ubl conjugation

    Proteomic databases

    MaxQBiQ70CQ3.
    PaxDbiQ70CQ3.
    PRIDEiQ70CQ3.

    PTM databases

    PhosphoSiteiQ70CQ3.

    Expressioni

    Tissue specificityi

    Expressed in skeletal muscle, pancreas, liver and kidney.1 Publication

    Gene expression databases

    ArrayExpressiQ70CQ3.
    BgeeiQ70CQ3.
    CleanExiHS_USP30.
    GenevestigatoriQ70CQ3.

    Organism-specific databases

    HPAiHPA016952.

    Interactioni

    Protein-protein interaction databases

    BioGridi124238. 7 interactions.
    DIPiDIP-53578N.
    IntActiQ70CQ3. 5 interactions.
    STRINGi9606.ENSP00000257548.

    Structurei

    3D structure databases

    ProteinModelPortaliQ70CQ3.
    SMRiQ70CQ3. Positions 61-354, 426-501.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 3535Mitochondrial intermembraneSequence AnalysisAdd
    BLAST
    Topological domaini57 – 517461CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei36 – 5621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini68 – 502435USPAdd
    BLAST

    Sequence similaritiesi

    Belongs to the peptidase C19 family.Curated
    Contains 1 USP domain.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG259866.
    HOGENOMiHOG000065744.
    HOVERGENiHBG079301.
    InParanoidiQ70CQ3.
    KOiK11851.
    OMAiNQPGGPK.
    PhylomeDBiQ70CQ3.
    TreeFamiTF105781.

    Family and domain databases

    InterProiIPR018200. Pept_C19ubi-hydrolase_C_CS.
    IPR001394. Peptidase_C19_UCH.
    IPR028889. UCH/PAN2.
    [Graphical view]
    PfamiPF00443. UCH. 1 hit.
    [Graphical view]
    PROSITEiPS00972. USP_1. 1 hit.
    PS00973. USP_2. 1 hit.
    PS50235. USP_3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q70CQ3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLSSRAEAAM TAADRAIQRF LRTGAAVRYK VMKNWGVIGG IAAALAAGIY    50
    VIWGPITERK KRRKGLVPGL VNLGNTCFMN SLLQGLSACP AFIRWLEEFT 100
    SQYSRDQKEP PSHQYLSLTL LHLLKALSCQ EVTDDEVLDA SCLLDVLRMY 150
    RWQISSFEEQ DAHELFHVIT SSLEDERDRQ PRVTHLFDVH SLEQQSEITP 200
    KQITCRTRGS PHPTSNHWKS QHPFHGRLTS NMVCKHCEHQ SPVRFDTFDS 250
    LSLSIPAATW GHPLTLDHCL HHFISSESVR DVVCDNCTKI EAKGTLNGEK 300
    VEHQRTTFVK QLKLGKLPQC LCIHLQRLSW SSHGTPLKRH EHVQFNEFLM 350
    MDIYKYHLLG HKPSQHNPKL NKNPGPTLEL QDGPGAPTPV LNQPGAPKTQ 400
    IFMNGACSPS LLPTLSAPMP FPLPVVPDYS SSTYLFRLMA VVVHHGDMHS 450
    GHFVTYRRSP PSARNPLSTS NQWLWVSDDT VRKASLQEVL SSSAYLLFYE 500
    RVLSRMQHQS QECKSEE 517
    Length:517
    Mass (Da):58,503
    Last modified:July 5, 2004 - v1
    Checksum:i68FA9B9BEBCFF8DF
    GO

    Sequence cautioni

    The sequence AAH04868.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAB55392.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti357 – 3571H → R.
    Corresponds to variant rs16939904 [ dbSNP | Ensembl ].
    VAR_059751

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ586136 mRNA. Translation: CAE51936.1.
    BC004868 mRNA. Translation: AAH04868.1. Different initiation.
    BC022094 mRNA. Translation: AAH22094.2.
    AK027820 mRNA. Translation: BAB55392.1. Different initiation.
    CCDSiCCDS9123.2.
    RefSeqiNP_116052.2. NM_032663.3.
    XP_006719715.1. XM_006719652.1.
    XP_006719716.1. XM_006719653.1.
    UniGeneiHs.486434.
    Hs.660996.

    Genome annotation databases

    EnsembliENST00000257548; ENSP00000257548; ENSG00000135093.
    GeneIDi84749.
    KEGGihsa:84749.
    UCSCiuc001tnu.4. human.

    Polymorphism databases

    DMDMi52000872.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ586136 mRNA. Translation: CAE51936.1 .
    BC004868 mRNA. Translation: AAH04868.1 . Different initiation.
    BC022094 mRNA. Translation: AAH22094.2 .
    AK027820 mRNA. Translation: BAB55392.1 . Different initiation.
    CCDSi CCDS9123.2.
    RefSeqi NP_116052.2. NM_032663.3.
    XP_006719715.1. XM_006719652.1.
    XP_006719716.1. XM_006719653.1.
    UniGenei Hs.486434.
    Hs.660996.

    3D structure databases

    ProteinModelPortali Q70CQ3.
    SMRi Q70CQ3. Positions 61-354, 426-501.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124238. 7 interactions.
    DIPi DIP-53578N.
    IntActi Q70CQ3. 5 interactions.
    STRINGi 9606.ENSP00000257548.

    Protein family/group databases

    MEROPSi C19.060.

    PTM databases

    PhosphoSitei Q70CQ3.

    Polymorphism databases

    DMDMi 52000872.

    Proteomic databases

    MaxQBi Q70CQ3.
    PaxDbi Q70CQ3.
    PRIDEi Q70CQ3.

    Protocols and materials databases

    DNASUi 84749.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000257548 ; ENSP00000257548 ; ENSG00000135093 .
    GeneIDi 84749.
    KEGGi hsa:84749.
    UCSCi uc001tnu.4. human.

    Organism-specific databases

    CTDi 84749.
    GeneCardsi GC12P109460.
    HGNCi HGNC:20065. USP30.
    HPAi HPA016952.
    MIMi 612492. gene.
    neXtProti NX_Q70CQ3.
    PharmGKBi PA134971149.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG259866.
    HOGENOMi HOG000065744.
    HOVERGENi HBG079301.
    InParanoidi Q70CQ3.
    KOi K11851.
    OMAi NQPGGPK.
    PhylomeDBi Q70CQ3.
    TreeFami TF105781.

    Miscellaneous databases

    ChiTaRSi USP30. human.
    GenomeRNAii 84749.
    NextBioi 74888.
    PROi Q70CQ3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q70CQ3.
    Bgeei Q70CQ3.
    CleanExi HS_USP30.
    Genevestigatori Q70CQ3.

    Family and domain databases

    InterProi IPR018200. Pept_C19ubi-hydrolase_C_CS.
    IPR001394. Peptidase_C19_UCH.
    IPR028889. UCH/PAN2.
    [Graphical view ]
    Pfami PF00443. UCH. 1 hit.
    [Graphical view ]
    PROSITEi PS00972. USP_1. 1 hit.
    PS00973. USP_2. 1 hit.
    PS50235. USP_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases."
      Quesada V., Diaz-Perales A., Gutierrez-Fernandez A., Garabaya C., Cal S., Lopez-Otin C.
      Biochem. Biophys. Res. Commun. 314:54-62(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, CATALYTIC ACTIVITY.
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Lung and Skin.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 24-517.
      Tissue: Placenta.
    4. "Regulation of mitochondrial morphology by USP30, a deubiquitinating enzyme present in the mitochondrial outer membrane."
      Nakamura N., Hirose S.
      Mol. Biol. Cell 19:1903-1911(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF ARG-28; LYS-30; LYS-33; 59-ARG--LYS-64 AND CYS-77.
    5. "The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy."
      Bingol B., Tea J.S., Phu L., Reichelt M., Bakalarski C.E., Song Q., Foreman O., Kirkpatrick D.S., Sheng M.
      Nature 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF CYS-77, UBIQUITINATION AT LYS-235 AND LYS-289.

    Entry informationi

    Entry nameiUBP30_HUMAN
    AccessioniPrimary (citable) accession number: Q70CQ3
    Secondary accession number(s): Q8WTU7, Q96JX4, Q9BSS3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 13, 2004
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 100 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Peptidase families
      Classification of peptidase families and list of entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3