LOCUS       NM_013987               4094 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens parkin RBR E3 ubiquitin protein ligase (PRKN),
            transcript variant 2, mRNA.
ACCESSION   NM_013987
VERSION     NM_013987.3
KEYWORDS    RefSeq.
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 4094)
  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 4094)
  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 4094)
  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 4094)
  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 4094)
  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 4094)
  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 4094)
  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 4094)
  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 4094)
  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 4094)
  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.
            
            On May 31, 2019 this sequence version replaced NM_013987.2.
            
            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 2 lacks exons 5 which is
            present in the full-length variant 1.
            
            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 :: SRR1660807.66047.1,
                                           SRR14038193.1872589.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DB023187.1         37-39
            4-632               AK292590.1         1-629
            633-1491            AK292590.1         714-1572
            1492-3953           AL132982.12        61942-64403         c
            3954-4094           AL132982.12        61801-61941         c
FEATURES             Location/Qualifiers
     source          1..4094
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q26"
     gene            1..4094
                     /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..1412
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /EC_number="2.3.2.31"
                     /note="isoform 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_054642.2"
                     /db_xref="CCDS:CCDS5282.1"
                     /db_xref="GeneID:5071"
                     /db_xref="HGNC:HGNC:8607"
                     /db_xref="MIM:602544"
                     /translation="MIVFVRFNSSHGFPVEVDSDTSIFQLKEVVAKRQGVPADQLRVI
                     FAGKELRNDWTVQNCDLDQQSIVHIVQRPWRKGQEMNATGGDDPRNAAGGCEREPQSL
                     TRVDLSSSVLPGDSVGLAVILHTDSRKDSPPAGSPAGRSIYNSFYVYCKGPCQRVQPG
                     KLRVQCSTCRQATLTLTQEFFFKCGAHPTSDKETSVALHLIATNSRNITCITCTDVRS
                     PVLVFQCNSRHVICLDCFHLYCVTRLNDRQFVHDPQLGYSLPCVAGCPNSLIKELHHF
                     RILGEEQYNRYQQYGAEECVLQMGGVLCPRPGCGAGLLPEPDQRKVTCEGGNGLGCGF
                     AFCRECKEAYHEGECSAVFEASGTTTQAYRVDERAAEQARWEAASKETIKKTTKPCPR
                     CHVPVEKNGGCMHMKCPQPQCRLEWCWNCGCEWNRVCMGDHWFDV"
     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..748
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            749..885
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            886..947
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1097
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1181
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1299
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..4094
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4077..4082
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRKN"
                     /gene_synonym="AR-JP; LPRS2; PARK2; PDJ"
                     /note="hexamer: AATAAA"
     polyA_site      4094
                     /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 aggaattttt ctttaaatgt ggagcacacc
      661 ccacctctga caaggaaaca tcagtagctt tgcacctgat cgcaacaaat agtcggaaca
      721 tcacttgcat tacgtgcaca gacgtcagga gccccgtcct ggttttccag tgcaactccc
      781 gccacgtgat ttgcttagac tgtttccact tatactgtgt gacaagactc aatgatcggc
      841 agtttgttca cgaccctcaa cttggctact ccctgccttg tgtggctggc tgtcccaact
      901 ccttgattaa agagctccat cacttcagga ttctgggaga agagcagtac aaccggtacc
      961 agcagtatgg tgcagaggag tgtgtcctgc agatgggggg cgtgttatgc ccccgccctg
     1021 gctgtggagc ggggctgctg ccggagcctg accagaggaa agtcacctgc gaagggggca
     1081 atggcctggg ctgtgggttt gccttctgcc gggaatgtaa agaagcgtac catgaagggg
     1141 agtgcagtgc cgtatttgaa gcctcaggaa caactactca ggcctacaga gtcgatgaaa
     1201 gagccgccga gcaggctcgt tgggaagcag cctccaaaga aaccatcaag aaaaccacca
     1261 agccctgtcc ccgctgccat gtaccagtgg aaaaaaatgg aggctgcatg cacatgaagt
     1321 gtccgcagcc ccagtgcagg ctcgagtggt gctggaactg tggctgcgag tggaaccgcg
     1381 tctgcatggg ggaccactgg ttcgacgtgt agccagggcg gccgggcgcc ccatcgccac
     1441 atcctggggg agcataccca gtgtctacct tcattttcta attctctttt caaacacaca
     1501 cacacacgcg cgcgcgcgca cacacactct tcaagttttt ttcaaagtcc aactacagcc
     1561 aaattgcaga agaaactcct ggatcccttt cactatgtcc atgaaaaaca gcagagtaaa
     1621 attacagaag aagctcctga atccctttca gtttgtccac acaagacagc agagccatct
     1681 gcgacaccac caacaggcgt tctcagcctc cggatgacac aaataccaga gcacagattc
     1741 aagtgcaatc catgtatctg tatgggtcat tctcacctga attcgagaca ggcagaatca
     1801 gtagctggag agagagttct cacatttaat atcctgcctt ttaccttcag taaacaccat
     1861 gaagatgcca ttgacaaggt gtttctctgt aaaatgaact gcagtgggtt ctccaaacta
     1921 gattcatggc tttaacagta atgttcttat ttaaattttc agaaagcatc tattcccaaa
     1981 gaaccccagg caatagtcaa aaacatttgt ttatccttaa gaattccatc tatataaatc
     2041 gcattaatga aataccaact atgcgtaaat caacttgtca caaagtgaga aattatgaaa
     2101 gttaatttga atgttgaatg tttgaattac agggaagaaa tcaagttaat gtactttcat
     2161 tccctttcat gatttgcaac tttagaaaga aattgttttt ctgaaagtat caccaaaaaa
     2221 tctatagttt gattctgagt attcattttg caacttggag attttgctaa tacatttggc
     2281 tccactgtaa atttaataga taaagtgcct ataaaggaaa cacgtttaga aatgatttca
     2341 aaatgatatt caatcttaac aaaagtgaac attattaaat cagaatcttt aaagaggagc
     2401 ctttccagaa ctaccaaaat gaagacacgc ccgactctct ccatcagaag ggtttatacc
     2461 cctttggcac accctctctg tccaatctgc aagtcccagg gagctctgca taccaggggt
     2521 tccccaggag agaccttctc ttaggacagt aaactcacta gaatattcct tatgttgaca
     2581 tggattggat ttcagttcaa tcaaactttc agcttttttt tcagccattc acaacacaat
     2641 caaaagatta acaacactgc atgcggcaaa ccgcatgctc ttacccacac tacgcagaag
     2701 agaaagtaca accactatct tttgttctac ctgtattgtc tgacttctca ggaagatcgt
     2761 gaacataact gagggcatga gtctcactag cacatggagg cccttttgga tttagagact
     2821 gtaaattatt aaatcggcaa cagggcttct ctttttagat gtagcactga aatccttgct
     2881 ggagggaaga gaggggatga actcaagttt tccacatcct gggacacctg tccctctttt
     2941 cctaactgcc taagataacc catttcttcc aaccatctga ggacagtccc gtcgtctcag
     3001 aggccctgca ccggggagag actgggctct gcagcagcca catcagcatt cacagcttca
     3061 tgtggcttca ctgtctgaaa atctaccgac tccaacatgg ccccacggtg acaacagacc
     3121 tgtgacagga agcccaaagc tcacatagaa atggtggaca gatcaaagtc tctatagtaa
     3181 gggaaaaaaa gagaggtggc aggcatgagc cccctgcacc cagtggctcg tgtccatact
     3241 gagtccagac cctgatcaag gcctgactta gtgtcactgg cagtcccact aaattacact
     3301 tccttacact ggcccgatgc gacaaatcag gtggctccct tctgtcacgt ggagcacaca
     3361 gtgttttcca tcatccatag ctttcttcct gatggtgttt gcattattgc gccttcccaa
     3421 tctgcatgct gcgttgggct tgcggtgcct gaacaaggtt tgctcccatg agctcaggca
     3481 ccctaggatc ccctgttaga ctattaggct gtccagcatg gtctcctttc ccttcttggt
     3541 ggtggtcttt tccctttcca gaatagaaca gtgattctta aaataagtta gagcaggccg
     3601 ggcgcggtgg ctcatgcctg taatcccagc actttgggag gccgaggtgg gtggatcacg
     3661 aggtcaggag ttcaagacca gcctggccaa gatgatgaaa ccccgtctct attaaaaata
     3721 caaaaattag ctgggcgtgg tggcaggcac ctgtaatccc agcttcctgg gaggctgagg
     3781 caggagaatc acttgaaccc ggggggcaga ggttgcagtg agccgagatc acgccactga
     3841 actccagcct gggcaacaga gtgagactct gtctcaaaaa aaaaaaaaaa acaaaaacaa
     3901 aaaagcaaga tcatccacta cacatgaaca tgaatcacag tattatttgc acaggaaggg
     3961 tgtaacaaaa tatgaatgta tcaaaaaata gaaataaagt ctttgcagaa aaagtctgtt
     4021 tttctctgaa gtgtgttgag attatctgac aactctaaga ttgtacttaa attgtcaata
     4081 aagcatcaaa agag
//
