LOCUS       NM_032663               3749 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ubiquitin specific peptidase 30 (USP30), transcript
            variant 1, mRNA.
ACCESSION   NM_032663
VERSION     NM_032663.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3749)
  AUTHORS   Crunkhorn,S.
  TITLE     USP30 inhibition protects dopaminergic neurons
  JOURNAL   Nat Rev Drug Discov 23 (1), 22 (2024)
   PUBMED   38040789
  REMARK    GeneRIF: USP30 inhibition protects dopaminergic neurons.
REFERENCE   2  (bases 1 to 3749)
  AUTHORS   Zhou,W., Xu,S., Deng,T., Zhou,R. and Wang,C.
  TITLE     LncRNA USP30-AS1 promotes the survival of acute myeloid leukemia
            cells by cis-regulating USP30 and ANKRD13A
  JOURNAL   Hum Cell 35 (1), 360-378 (2022)
   PUBMED   34694569
  REMARK    GeneRIF: LncRNA USP30-AS1 promotes the survival of acute myeloid
            leukemia cells by cis-regulating USP30 and ANKRD13A.
REFERENCE   3  (bases 1 to 3749)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 3749)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 3749)
  AUTHORS   Rusilowicz-Jones,E.V., Jardine,J., Kallinos,A., Pinto-Fernandez,A.,
            Guenther,F., Giurrandino,M., Barone,F.G., McCarron,K., Burke,C.J.,
            Murad,A., Martinez,A., Marcassa,E., Gersch,M., Buckmelter,A.J.,
            Kayser-Bricker,K.J., Lamoliatte,F., Gajbhiye,A., Davis,S.,
            Scott,H.C., Murphy,E., England,K., Mortiboys,H., Komander,D.,
            Trost,M., Kessler,B.M., Ioannidis,S., Ahlijanian,M.K., Urbe,S. and
            Clague,M.J.
  TITLE     USP30 sets a trigger threshold for PINK1-PARKIN amplification of
            mitochondrial ubiquitylation
  JOURNAL   Life Sci Alliance 3 (8), e202000768 (2020)
   PUBMED   32636217
  REMARK    GeneRIF: USP30 sets a trigger threshold for PINK1-PARKIN
            amplification of mitochondrial ubiquitylation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3749)
  AUTHORS   Cunningham,C.N., Baughman,J.M., Phu,L., Tea,J.S., Yu,C., Coons,M.,
            Kirkpatrick,D.S., Bingol,B. and Corn,J.E.
  TITLE     USP30 and parkin homeostatically regulate atypical ubiquitin chains
            on mitochondria
  JOURNAL   Nat Cell Biol 17 (2), 160-169 (2015)
   PUBMED   25621951
  REMARK    GeneRIF: The mechanism by which parkin, an E3 ubiquitin ligase, and
            USP30, a mitochondrion-localized deubiquitylase, regulate
            mitophagy, was investigated.
REFERENCE   7  (bases 1 to 3749)
  AUTHORS   Bingol,B., Tea,J.S., Phu,L., Reichelt,M., Bakalarski,C.E., Song,Q.,
            Foreman,O., Kirkpatrick,D.S. and Sheng,M.
  TITLE     The mitochondrial deubiquitinase USP30 opposes parkin-mediated
            mitophagy
  JOURNAL   Nature 510 (7505), 370-375 (2014)
   PUBMED   24896179
  REMARK    GeneRIF: reducing USP30 activity enhances mitochondrial degradation
            in neurons
REFERENCE   8  (bases 1 to 3749)
  AUTHORS   Nakamura,N. and Hirose,S.
  TITLE     Regulation of mitochondrial morphology by USP30, a deubiquitinating
            enzyme present in the mitochondrial outer membrane
  JOURNAL   Mol Biol Cell 19 (5), 1903-1911 (2008)
   PUBMED   18287522
  REMARK    GeneRIF: USP30 participates in the maintenance of mitochondrial
            morphology, a finding that provides new insight into the cellular
            function of deubiquitination.
REFERENCE   9  (bases 1 to 3749)
  AUTHORS   Quesada,V., Diaz-Perales,A., Gutierrez-Fernandez,A., Garabaya,C.,
            Cal,S. and Lopez-Otin,C.
  TITLE     Cloning and enzymatic analysis of 22 novel human ubiquitin-specific
            proteases
  JOURNAL   Biochem Biophys Res Commun 314 (1), 54-62 (2004)
   PUBMED   14715245
REFERENCE   10 (bases 1 to 3749)
  AUTHORS   Puente,X.S., Sanchez,L.M., Overall,C.M. and Lopez-Otin,C.
  TITLE     Human and mouse proteases: a comparative genomic approach
  JOURNAL   Nat Rev Genet 4 (7), 544-558 (2003)
   PUBMED   12838346
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY127211.1, BC004868.2, AC011596.27, AL834278.1 and BX095894.1.
            
            On Nov 22, 2018 this sequence version replaced NM_032663.4.
            
            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].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.162478.1,
                                           SRR1803612.26615.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000257548.10/ ENSP00000257548.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-64                HY127211.1         8-71
            65-741              BC004868.2         61-737
            742-742             AC011596.27        80765-80765
            743-2108            BC004868.2         739-2104
            2109-3359           AL834278.1         1278-2528
            3360-3360           AC011596.27        94948-94948
            3361-3384           AL834278.1         2530-2553
            3385-3749           BX095894.1         17-381              c
FEATURES             Location/Qualifiers
     source          1..3749
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..3749
                     /gene="USP30"
                     /note="ubiquitin specific peptidase 30"
                     /db_xref="GeneID:84749"
                     /db_xref="HGNC:HGNC:20065"
                     /db_xref="MIM:612492"
     exon            1..186
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..1657
                     /gene="USP30"
                     /EC_number="3.4.19.12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ubiquitin carboxyl-terminal hydrolase 30; ub-specific
                     protease 30; ubiquitin thioesterase 30; deubiquitinating
                     enzyme 30; ubiquitin-specific protease 30;
                     ubiquitin-specific-processing protease 30; ubiquitin
                     thiolesterase 30"
                     /codon_start=1
                     /product="ubiquitin carboxyl-terminal hydrolase 30 isoform
                     1"
                     /protein_id="NP_116052.2"
                     /db_xref="CCDS:CCDS9123.2"
                     /db_xref="GeneID:84749"
                     /db_xref="HGNC:HGNC:20065"
                     /db_xref="MIM:612492"
                     /translation="MLSSRAEAAMTAADRAIQRFLRTGAAVRYKVMKNWGVIGGIAAA
                     LAAGIYVIWGPITERKKRRKGLVPGLVNLGNTCFMNSLLQGLSACPAFIRWLEEFTSQ
                     YSRDQKEPPSHQYLSLTLLHLLKALSCQEVTDDEVLDASCLLDVLRMYRWQISSFEEQ
                     DAHELFHVITSSLEDERDRQPRVTHLFDVHSLEQQSEITPKQITCRTRGSPHPTSNHW
                     KSQHPFHGRLTSNMVCKHCEHQSPVRFDTFDSLSLSIPAATWGHPLTLDHCLHHFISS
                     ESVRDVVCDNCTKIEAKGTLNGEKVEHQRTTFVKQLKLGKLPQCLCIHLQRLSWSSHG
                     TPLKRHEHVQFNEFLMMDIYKYHLLGHKPSQHNPKLNKNPGPTLELQDGPGAPTPVLN
                     QPGAPKTQIFMNGACSPSLLPTLSAPMPFPLPVVPDYSSSTYLFRLMAVVVHHGDMHS
                     GHFVTYRRSPPSARNPLSTSNQWLWVSDDTVRKASLQEVLSSSAYLLFYERVLSRMQH
                     QSQECKSEE"
     exon            187..296
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     exon            297..479
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     exon            480..583
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     exon            584..682
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     exon            683..728
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     exon            729..823
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     exon            824..883
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     exon            884..970
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1051
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1271
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1392
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..3749
                     /gene="USP30"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1926..1931
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USP30"
                     /note="hexamer: ATTAAA"
     polyA_site      1949
                     /gene="USP30"
                     /note="major polyA site"
     regulatory      3726..3731
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USP30"
                     /note="hexamer: AATAAT"
     polyA_site      3749
                     /gene="USP30"
                     /note="major polyA site"
ORIGIN      
        1 gcggccgcag gttccgctgt ctcgggaacc gtcgtatccc tcggtccggc ggcggcggcg
       61 gcggtagcgg aggagacggt ttcaggcctc cggtgcggct gcaatgctga gctcccgggc
      121 cgaggcggcg atgaccgcgg ccgacagggc catccagcgc ttcctgcgga ccggggcggc
      181 cgtcagatat aaagtcatga agaactgggg agttataggt ggaattgctg ctgctcttgc
      241 agcaggaata tatgttattt ggggtcccat tacagaaaga aagaagcgta gaaaagggct
      301 tgtgcctggc cttgttaatt tagggaacac ctgcttcatg aactccctgc tacaaggcct
      361 gtctgcctgt cctgctttca tcaggtggct ggaagagttc acctcccagt actccaggga
      421 tcagaaggag cccccctcac accagtattt atccttaaca ctcttgcacc ttctgaaagc
      481 cttgtcctgc caagaagtta ctgatgatga ggtcttagat gcaagctgct tgttggatgt
      541 cttaagaatg tacagatggc agatctcatc atttgaagaa caggatgctc acgaattatt
      601 ccatgtcatt acctcgtcat tggaagatga gcgagaccgc cagcctcggg tcacacattt
      661 gtttgatgtg cattccctgg agcagcagtc agaaataact cccaaacaaa ttacctgccg
      721 cacaagaggg tcacctcacc ctacatccaa tcactggaag tctcaacatc cttttcatgg
      781 aagactcact agtaatatgg tctgcaaaca ctgtgaacac cagagtcctg ttcgatttga
      841 tacctttgat agcctttcac taagtattcc agccgccaca tggggtcacc cattgaccct
      901 ggaccactgc cttcaccact tcatctcatc agaatcagtg cgggatgttg tgtgtgacaa
      961 ctgtacaaag attgaagcca agggaacgtt gaacggggaa aaggtggaac accagaggac
     1021 cacttttgtt aaacagttaa aactagggaa gctccctcag tgtctctgca tccacctaca
     1081 gcggctgagc tggtccagcc acggcacgcc tctgaagcgg catgagcacg tgcagttcaa
     1141 tgagttcctg atgatggaca tttacaagta ccacctcctt ggacataaac ctagtcaaca
     1201 caaccctaaa ctgaacaaga acccagggcc tacactggag ctgcaggatg ggccgggagc
     1261 ccccacacca gttctgaatc agccaggggc ccccaaaaca cagattttta tgaatggcgc
     1321 ctgctcccca tctttattgc caacgctgtc agcgccgatg cccttccctc tcccagttgt
     1381 tcccgactac agctcctcca catacctctt ccggctgatg gcagttgtcg tccaccatgg
     1441 agacatgcac tctggacact ttgtcactta ccgacggtcc ccaccttctg ccaggaaccc
     1501 tctctcaact agcaatcagt ggctgtgggt ctccgatgac actgtccgca aggccagcct
     1561 gcaggaggtc ctgtcctcca gcgcctacct gctgttctac gagcgcgtcc tttccaggat
     1621 gcagcaccag agccaggagt gcaagtctga agaatgactg tgccctcctg caaggctaga
     1681 gctgatggca ctgtctgcac tgtccaggaa aaaagtaaaa ctgtactgtt gcgtgtgcaa
     1741 gcggccccac tagagccttc cagccttctg gtgtgttcta agagcaggct ccacctggga
     1801 gccagcccca gttcacacca aaccaggctc cctgaacagt cctgttcatg tgtgtaggtg
     1861 gttctgttgt gttaagaaag cattcattat gtccggagtg tctttttact catctgatac
     1921 aggtaattaa aagaactcag attcttgaag ccaccgtttt catattgtaa tgttaggtgt
     1981 tctcagaggg gaggtacctt tgtctaatca acgtttccac ttagatcttt tatttttaat
     2041 aagcaggccc ataaaaattg ttgacaagaa ttaatgaaat tattaaaggc aacaatttag
     2101 aagaaaaagt gcctttcact ttcgattgct tttgtagcac gtccattgtg aaatattcct
     2161 tccaggctac tcaaaggata gcaagagaac aggtaaatga tgcctaaaga acaccttcct
     2221 ttttctatgc cttttctaat ctttcaattc tttctatgga gtaaaggctc atctgccaaa
     2281 tctgccccct ggggaaactc tttcactact ttgtcagtta taagtgaaga gcttacttgt
     2341 tgcttttatc ttttgtatat tggactgaga tgtaattaca ctgtattata aaactctgtg
     2401 aatagccaga actgagctgg atctttgcaa cacctgattc ctctgctctg tggaaaactt
     2461 tttcttacac aaggatccac tgtggacggt tactttcatc tgtttattta ttgcccatgc
     2521 agagctctta aggtttacag gtgggagctt ggggctgtat aaaaaaataa tccctgccct
     2581 gagttgacac ctggcttagg aaggaagggc tgactatggg gctgcagtct ctctgaacct
     2641 cagtttcctc atttgtgaag tgaagggtta gatttgatga ccaccaaagt tcagcccttt
     2701 tcacgaaaag gagaaagcag cttttgactt tttaaaaaac atataactac agctggcatc
     2761 tagtattgtc atgttgctct aggtccatat tctgaattta ttcatttcca atagcctaat
     2821 acaaaaagta tatattgagc actttcttcc cttttcaggt aagtctctga atgcagccca
     2881 gggccaaagg aattttgatg acacagtagt acctatgttt taagctatat ttttaattta
     2941 gaaaaatgga taccaaattc aaaccgactc atcagaggta agatttggaa tcagaccttt
     3001 ccaaaaggtc atctgaggta aggctaagac cgcacttcct ctgctggggg tgagctggca
     3061 gacacaccaa acagtgcctt ggcagcagct cacagtgcag gaagcccagg tgatcactct
     3121 tctgctgggc ccaggctgca ccctgaggac tcagtaactc actctcaaca gaatattctg
     3181 tgcaggctct ccaggctctg ggcgtcaggg tgcaaggggc agcttgaact gtacggtccg
     3241 tcctgcactc acccgatgca gaccttgact ttgatgttga aatgaacaca cttgttttac
     3301 ccaagtctgg tggaacaaat gcccaatcat gtgaccttaa agtgtactgc aaagctgtag
     3361 ctttaagtaa ttgctgttct gccactgctt actctgaaat ctaccatcaa agaaagatag
     3421 agaaaagggg ctgagccttg gaatatatgg ttataagcag atctttcttt ggtcagagac
     3481 cagggtttga gccaaggctg taaatgtgaa caatagctgt gcaaagcctt ttaacctgac
     3541 ttcttcattt tgtaaattat tatgcattaa gtagcagccc aataatctga tttctagttt
     3601 tattttcaaa gtaagtagct tcttttggga aaaacctaag ttaaactagt agttttgcca
     3661 taataactgc tgatttatgt atttgctaaa ggtacttttg tatctgctgt gtattatagc
     3721 aataaaataa tcattttgtt agaaaaaaa
//
