LOCUS       NM_004562               4178 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens parkin RBR E3 ubiquitin protein ligase (PRKN),
            transcript variant 1, mRNA.
ACCESSION   NM_004562
VERSION     NM_004562.3
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 4178)
  AUTHORS   Ye,X., Kotaru,S., Lopes,R., Cravens,S., Lasagna,M. and Wand,A.J.
  TITLE     Cooperative Substructure and Energetics of Allosteric Regulation of
            the Catalytic Core of the E3 Ubiquitin Ligase Parkin by
            Phosphorylated Ubiquitin
  JOURNAL   Biomolecules 14 (10), 1338 (2024)
   PUBMED   39456270
  REMARK    GeneRIF: Cooperative Substructure and Energetics of Allosteric
            Regulation of the Catalytic Core of the E3 Ubiquitin Ligase Parkin
            by Phosphorylated Ubiquitin.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4178)
  AUTHORS   Sun,X., Ye,G., Li,J., Yuan,L., Bai,G., Xu,Y.J. and Zhang,J.
  TITLE     The tumor suppressor Parkin exerts anticancer effects through
            regulating mitochondrial GAPDH activity
  JOURNAL   Oncogene 43 (44), 3215-3226 (2024)
   PUBMED   39285229
  REMARK    GeneRIF: The tumor suppressor Parkin exerts anticancer effects
            through regulating mitochondrial GAPDH activity.
REFERENCE   3  (bases 1 to 4178)
  AUTHORS   Sauve,V., Stefan,E., Croteau,N., Goiran,T., Fakih,R., Bansal,N.,
            Hadzipasic,A., Fang,J., Murugan,P., Chen,S., Fon,E.A., Hirst,W.D.,
            Silvian,L.F., Trempe,J.F. and Gehring,K.
  TITLE     Activation of parkin by a molecular glue
  JOURNAL   Nat Commun 15 (1), 7707 (2024)
   PUBMED   39300082
  REMARK    GeneRIF: Activation of parkin by a molecular glue.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4178)
  AUTHORS   Lenka,D.R., Dahe,S.V., Antico,O., Sahoo,P., Prescott,A.R.,
            Muqit,M.M.K. and Kumar,A.
  TITLE     Additional feedforward mechanism of Parkin activation via binding
            of phospho-UBL and RING0 in trans
  JOURNAL   Elife 13, 96699 (2024)
   PUBMED   39221915
  REMARK    GeneRIF: Additional feedforward mechanism of Parkin activation via
            binding of phospho-UBL and RING0 in trans.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4178)
  AUTHORS   Saito,M., Matsumine,H., Tanaka,H., Ishikawa,A., Matsubayashi,S.,
            Hattori,Y., Mizuno,Y. and Tsuji,S.
  TITLE     [Clinical characteristics and linkage analysis of autosomal
            recessive form of juvenile parkinsonism(AR-JP)]
  JOURNAL   Nihon Rinsho 55 (1), 83-88 (1997)
   PUBMED   9014427
  REMARK    Review article
REFERENCE   6  (bases 1 to 4178)
  AUTHORS   Saito,S., Sirahama,S., Matsushima,M., Suzuki,M., Sagae,S., Kudo,R.,
            Saito,J., Noda,K. and Nakamura,Y.
  TITLE     Definition of a commonly deleted region in ovarian cancers to a
            300-kb segment of chromosome 6q27
  JOURNAL   Cancer Res 56 (24), 5586-5589 (1996)
   PUBMED   8971159
REFERENCE   7  (bases 1 to 4178)
  AUTHORS   Bruggemann,N. and Klein,C.
  TITLE     Parkin Type of Early-Onset Parkinson Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301651
REFERENCE   8  (bases 1 to 4178)
  AUTHORS   Cook Shukla,L., Schulze,J., Farlow,J., Pankratz,N.D., Wojcieszek,J.
            and Foroud,T.
  TITLE     Parkinson Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301402
REFERENCE   9  (bases 1 to 4178)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   10 (bases 1 to 4178)
  AUTHORS   Saito,S., Saito,H., Koi,S., Sagae,S., Kudo,R., Saito,J., Noda,K.
            and Nakamura,Y.
  TITLE     Fine-scale deletion mapping of the distal long arm of chromosome 6
            in 70 human ovarian cancers
  JOURNAL   Cancer Res 52 (20), 5815-5817 (1992)
   PUBMED   1394208
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB023187.1, AK292590.1 and
            AL132982.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004562.2.
            
            Summary: The precise function of this gene is unknown; however, the
            encoded protein is a component of a multiprotein E3 ubiquitin
            ligase complex that mediates the targeting of substrate proteins
            for proteasomal degradation. Mutations in this gene are known to
            cause Parkinson disease and autosomal recessive juvenile Parkinson
            disease. Alternative splicing of this gene produces multiple
            transcript variants encoding distinct isoforms. Additional splice
            variants of this gene have been described but currently lack
            transcript support. [provided by RefSeq, Jul 2008].
            
            Transcript Variant:  Transcript variant 1 represents the
            predominant and full-length form of this gene.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: AB009973.1, SRR14038195.579717.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366898.6/ ENSP00000355865.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DB023187.1         37-39
            4-1575              AK292590.1         1-1572
            1576-4037           AL132982.12        61942-64403         c
            4038-4178           AL132982.12        61801-61941         c
FEATURES             Location/Qualifiers
     source          1..4178
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q26"
     gene            1..4178
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /note="parkin RBR E3 ubiquitin protein ligase"
                     /db_xref="GeneID:5071"
                     /db_xref="HGNC:HGNC:8607"
                     /db_xref="MIM:602544"
     exon            1..105
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..1496
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /EC_number="2.3.2.31"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Parkinson disease (autosomal recessive, juvenile) 2,
                     parkin; parkinson juvenile disease protein 2; parkinson
                     protein 2, E3 ubiquitin protein ligase (parkin); parkinson
                     protein 2 E3 ubiquitin protein ligase"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase parkin isoform 1"
                     /protein_id="NP_004553.2"
                     /db_xref="CCDS:CCDS5281.1"
                     /db_xref="GeneID:5071"
                     /db_xref="HGNC:HGNC:8607"
                     /db_xref="MIM:602544"
                     /translation="MIVFVRFNSSHGFPVEVDSDTSIFQLKEVVAKRQGVPADQLRVI
                     FAGKELRNDWTVQNCDLDQQSIVHIVQRPWRKGQEMNATGGDDPRNAAGGCEREPQSL
                     TRVDLSSSVLPGDSVGLAVILHTDSRKDSPPAGSPAGRSIYNSFYVYCKGPCQRVQPG
                     KLRVQCSTCRQATLTLTQGPSCWDDVLIPNRMSGECQSPHCPGTSAEFFFKCGAHPTS
                     DKETSVALHLIATNSRNITCITCTDVRSPVLVFQCNSRHVICLDCFHLYCVTRLNDRQ
                     FVHDPQLGYSLPCVAGCPNSLIKELHHFRILGEEQYNRYQQYGAEECVLQMGGVLCPR
                     PGCGAGLLPEPDQRKVTCEGGNGLGCGFAFCRECKEAYHEGECSAVFEASGTTTQAYR
                     VDERAAEQARWEAASKETIKKTTKPCPRCHVPVEKNGGCMHMKCPQPQCRLEWCWNCG
                     CEWNRVCMGDHWFDV"
     exon            106..269
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            270..510
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            511..632
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            633..716
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            717..832
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            833..969
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1031
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1181
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1265
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1383
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            1384..4178
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4161..4166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /note="hexamer: AATAAA"
     polyA_site      4178
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /note="major polyA site"
ORIGIN      
        1 aggatttaac ccaggagagc cgctggtggg aggcgcggct ggcgccgctg cgcgcatggg
       61 cctgttcctg gcccgcagcc gccacctacc cagtgaccat gatagtgttt gtcaggttca
      121 actccagcca tggtttccca gtggaggtcg attctgacac cagcatcttc cagctcaagg
      181 aggtggttgc taagcgacag ggggttccgg ctgaccagtt gcgtgtgatt ttcgcaggga
      241 aggagctgag gaatgactgg actgtgcaga attgtgacct ggatcagcag agcattgttc
      301 acattgtgca gagaccgtgg agaaaaggtc aagaaatgaa tgcaactgga ggcgacgacc
      361 ccagaaacgc ggcgggaggc tgtgagcggg agccccagag cttgactcgg gtggacctca
      421 gcagctcagt cctcccagga gactctgtgg ggctggctgt cattctgcac actgacagca
      481 ggaaggactc accaccagct ggaagtccag caggtagatc aatctacaac agcttttatg
      541 tgtattgcaa aggcccctgt caaagagtgc agccgggaaa actcagggta cagtgcagca
      601 cctgcaggca ggcaacgctc accttgaccc agggtccatc ttgctgggat gatgttttaa
      661 ttccaaaccg gatgagtggt gaatgccaat ccccacactg ccctgggact agtgcagaat
      721 ttttctttaa atgtggagca caccccacct ctgacaagga aacatcagta gctttgcacc
      781 tgatcgcaac aaatagtcgg aacatcactt gcattacgtg cacagacgtc aggagccccg
      841 tcctggtttt ccagtgcaac tcccgccacg tgatttgctt agactgtttc cacttatact
      901 gtgtgacaag actcaatgat cggcagtttg ttcacgaccc tcaacttggc tactccctgc
      961 cttgtgtggc tggctgtccc aactccttga ttaaagagct ccatcacttc aggattctgg
     1021 gagaagagca gtacaaccgg taccagcagt atggtgcaga ggagtgtgtc ctgcagatgg
     1081 ggggcgtgtt atgcccccgc cctggctgtg gagcggggct gctgccggag cctgaccaga
     1141 ggaaagtcac ctgcgaaggg ggcaatggcc tgggctgtgg gtttgccttc tgccgggaat
     1201 gtaaagaagc gtaccatgaa ggggagtgca gtgccgtatt tgaagcctca ggaacaacta
     1261 ctcaggccta cagagtcgat gaaagagccg ccgagcaggc tcgttgggaa gcagcctcca
     1321 aagaaaccat caagaaaacc accaagccct gtccccgctg ccatgtacca gtggaaaaaa
     1381 atggaggctg catgcacatg aagtgtccgc agccccagtg caggctcgag tggtgctgga
     1441 actgtggctg cgagtggaac cgcgtctgca tgggggacca ctggttcgac gtgtagccag
     1501 ggcggccggg cgccccatcg ccacatcctg ggggagcata cccagtgtct accttcattt
     1561 tctaattctc ttttcaaaca cacacacaca cgcgcgcgcg cgcacacaca ctcttcaagt
     1621 ttttttcaaa gtccaactac agccaaattg cagaagaaac tcctggatcc ctttcactat
     1681 gtccatgaaa aacagcagag taaaattaca gaagaagctc ctgaatccct ttcagtttgt
     1741 ccacacaaga cagcagagcc atctgcgaca ccaccaacag gcgttctcag cctccggatg
     1801 acacaaatac cagagcacag attcaagtgc aatccatgta tctgtatggg tcattctcac
     1861 ctgaattcga gacaggcaga atcagtagct ggagagagag ttctcacatt taatatcctg
     1921 ccttttacct tcagtaaaca ccatgaagat gccattgaca aggtgtttct ctgtaaaatg
     1981 aactgcagtg ggttctccaa actagattca tggctttaac agtaatgttc ttatttaaat
     2041 tttcagaaag catctattcc caaagaaccc caggcaatag tcaaaaacat ttgtttatcc
     2101 ttaagaattc catctatata aatcgcatta atgaaatacc aactatgcgt aaatcaactt
     2161 gtcacaaagt gagaaattat gaaagttaat ttgaatgttg aatgtttgaa ttacagggaa
     2221 gaaatcaagt taatgtactt tcattccctt tcatgatttg caactttaga aagaaattgt
     2281 ttttctgaaa gtatcaccaa aaaatctata gtttgattct gagtattcat tttgcaactt
     2341 ggagattttg ctaatacatt tggctccact gtaaatttaa tagataaagt gcctataaag
     2401 gaaacacgtt tagaaatgat ttcaaaatga tattcaatct taacaaaagt gaacattatt
     2461 aaatcagaat ctttaaagag gagcctttcc agaactacca aaatgaagac acgcccgact
     2521 ctctccatca gaagggttta tacccctttg gcacaccctc tctgtccaat ctgcaagtcc
     2581 cagggagctc tgcataccag gggttcccca ggagagacct tctcttagga cagtaaactc
     2641 actagaatat tccttatgtt gacatggatt ggatttcagt tcaatcaaac tttcagcttt
     2701 tttttcagcc attcacaaca caatcaaaag attaacaaca ctgcatgcgg caaaccgcat
     2761 gctcttaccc acactacgca gaagagaaag tacaaccact atcttttgtt ctacctgtat
     2821 tgtctgactt ctcaggaaga tcgtgaacat aactgagggc atgagtctca ctagcacatg
     2881 gaggcccttt tggatttaga gactgtaaat tattaaatcg gcaacagggc ttctcttttt
     2941 agatgtagca ctgaaatcct tgctggaggg aagagagggg atgaactcaa gttttccaca
     3001 tcctgggaca cctgtccctc ttttcctaac tgcctaagat aacccatttc ttccaaccat
     3061 ctgaggacag tcccgtcgtc tcagaggccc tgcaccgggg agagactggg ctctgcagca
     3121 gccacatcag cattcacagc ttcatgtggc ttcactgtct gaaaatctac cgactccaac
     3181 atggccccac ggtgacaaca gacctgtgac aggaagccca aagctcacat agaaatggtg
     3241 gacagatcaa agtctctata gtaagggaaa aaaagagagg tggcaggcat gagccccctg
     3301 cacccagtgg ctcgtgtcca tactgagtcc agaccctgat caaggcctga cttagtgtca
     3361 ctggcagtcc cactaaatta cacttcctta cactggcccg atgcgacaaa tcaggtggct
     3421 cccttctgtc acgtggagca cacagtgttt tccatcatcc atagctttct tcctgatggt
     3481 gtttgcatta ttgcgccttc ccaatctgca tgctgcgttg ggcttgcggt gcctgaacaa
     3541 ggtttgctcc catgagctca ggcaccctag gatcccctgt tagactatta ggctgtccag
     3601 catggtctcc tttcccttct tggtggtggt cttttccctt tccagaatag aacagtgatt
     3661 cttaaaataa gttagagcag gccgggcgcg gtggctcatg cctgtaatcc cagcactttg
     3721 ggaggccgag gtgggtggat cacgaggtca ggagttcaag accagcctgg ccaagatgat
     3781 gaaaccccgt ctctattaaa aatacaaaaa ttagctgggc gtggtggcag gcacctgtaa
     3841 tcccagcttc ctgggaggct gaggcaggag aatcacttga acccgggggg cagaggttgc
     3901 agtgagccga gatcacgcca ctgaactcca gcctgggcaa cagagtgaga ctctgtctca
     3961 aaaaaaaaaa aaaaacaaaa acaaaaaagc aagatcatcc actacacatg aacatgaatc
     4021 acagtattat ttgcacagga agggtgtaac aaaatatgaa tgtatcaaaa aatagaaata
     4081 aagtctttgc agaaaaagtc tgtttttctc tgaagtgtgt tgagattatc tgacaactct
     4141 aagattgtac ttaaattgtc aataaagcat caaaagag
//
