LOCUS       NM_032409               2657 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens PTEN induced kinase 1 (PINK1), mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_032409
VERSION     NM_032409.3
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 2657)
  AUTHORS   Qiao,Y., Kou,J., Tian,Y., Ma,W., Yu,Y., Pang,J., Pei,Y., Zhang,Y.,
            Ye,B., Xie,Z., Liu,J., Wang,Z., Wang,L., Gao,X., Ma,N. and Zhang,Y.
  TITLE     Subcellular localization and function analysis of PINK1 mitron in
            PD progression: Mitron modulates mitochondrial morphology to
            regulate neuronal death
  JOURNAL   J Biol Chem 300 (10), 107773 (2024)
   PUBMED   39276929
  REMARK    GeneRIF: Subcellular localization and function analysis of PINK1
            mitron in PD progression: Mitron modulates mitochondrial morphology
            to regulate neuronal death.
REFERENCE   2  (bases 1 to 2657)
  AUTHORS   Zhao,L., Chen,Y., Li,H., Ding,X. and Li,J.
  TITLE     Deciphering the neuroprotective mechanisms of RACK1 in cerebral
            ischemia-reperfusion injury: Pioneering insights into mitochondrial
            autophagy and the PINK1/Parkin axis
  JOURNAL   CNS Neurosci Ther 30 (8), e14836 (2024)
   PUBMED   39097918
  REMARK    GeneRIF: Deciphering the neuroprotective mechanisms of RACK1 in
            cerebral ischemia-reperfusion injury: Pioneering insights into
            mitochondrial autophagy and the PINK1/Parkin axis.
REFERENCE   3  (bases 1 to 2657)
  AUTHORS   Raimi,O.G., Ojha,H., Ehses,K., Dederer,V., Lange,S.M., Rivera,C.P.,
            Deegan,T.D., Chen,Y., Wightman,M., Toth,R., Labib,K.P.M.,
            Mathea,S., Ranson,N., Fernandez-Busnadiego,R. and Muqit,M.M.K.
  TITLE     Mechanism of human PINK1 activation at the TOM complex in a
            reconstituted system
  JOURNAL   Sci Adv 10 (23), eadn7191 (2024)
   PUBMED   38848361
REFERENCE   4  (bases 1 to 2657)
  AUTHORS   He,H., Tang,Y., Zhuang,L., Zheng,Y. and Huang,X.
  TITLE     PINK1/Park2-Mediated Mitophagy Relieve Non-Alcoholic Fatty Liver
            Disease
  JOURNAL   Physiol Res 73 (2), 253-263 (2024)
   PUBMED   38710055
  REMARK    GeneRIF: PINK1/Park2-Mediated Mitophagy Relieve Non-Alcoholic Fatty
            Liver Disease.
REFERENCE   5  (bases 1 to 2657)
  AUTHORS   Khan,N.L., Valente,E.M., Bentivoglio,A.R., Wood,N.W., Albanese,A.,
            Brooks,D.J. and Piccini,P.
  TITLE     Clinical and subclinical dopaminergic dysfunction in PARK6-linked
            parkinsonism: an 18F-dopa PET study
  JOURNAL   Ann Neurol 52 (6), 849-853 (2002)
   PUBMED   12447943
  REMARK    GeneRIF: The subclinical loss of striatal dopamine storage capacity
            found in PARK6 carriers implies that the unidentified gene on the
            short arm of chromosome 1 exhibits either haploinsufficency or a
            dominant negative effect.
REFERENCE   6  (bases 1 to 2657)
  AUTHORS   Bonifati,V., Dekker,M.C., Vanacore,N., Fabbrini,G., Squitieri,F.,
            Marconi,R., Antonini,A., Brustenghi,P., Dalla Libera,A., De
            Mari,M., Stocchi,F., Montagna,P., Gallai,V., Rizzu,P., van
            Swieten,J.C., Oostra,B., van Duijn,C.M., Meco,G. and Heutink,P.
  CONSRTM   Italian Parkinson Genetics Network
  TITLE     Autosomal recessive early onset parkinsonism is linked to three
            loci: PARK2, PARK6, and PARK7
  JOURNAL   Neurol Sci 23 Suppl 2, S59-S60 (2002)
   PUBMED   12548343
  REMARK    GeneRIF: Autosomal recessive early onset parkinsonism is linked to
            three loci: PARK2, PARK6, and PARK7.
REFERENCE   7  (bases 1 to 2657)
  AUTHORS   Unoki,M. and Nakamura,Y.
  TITLE     Growth-suppressive effects of BPOZ and EGR2, two genes involved in
            the PTEN signaling pathway
  JOURNAL   Oncogene 20 (33), 4457-4465 (2001)
   PUBMED   11494141
REFERENCE   8  (bases 1 to 2657)
  AUTHORS   Valente,E.M., Bentivoglio,A.R., Dixon,P.H., Ferraris,A.,
            Ialongo,T., Frontali,M., Albanese,A. and Wood,N.W.
  TITLE     Localization of a novel locus for autosomal recessive early-onset
            parkinsonism, PARK6, on human chromosome 1p35-p36
  JOURNAL   Am J Hum Genet 68 (4), 895-900 (2001)
   PUBMED   11254447
REFERENCE   9  (bases 1 to 2657)
  AUTHORS   Lange,L.M. and Klein,C.
  TITLE     PINK1 Type of Young-Onset Parkinson Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301792
REFERENCE   10 (bases 1 to 2657)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB053323.1 and AL391357.20.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_032409.2.
            
            Summary: This gene encodes a serine/threonine protein kinase that
            localizes to mitochondria. It is thought to protect cells from
            stress-induced mitochondrial dysfunction. Mutations in this gene
            cause one form of autosomal recessive early-onset Parkinson
            disease. [provided by RefSeq, Jul 2008].
            
            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 :: AB053323.1, SRR1660809.117321.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000321556.5/
                                                  ENSP00000364204.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1873              AB053323.1         4-1876
            1874-2613           AL391357.20        172535-173274
            2614-2657           AB053323.1         2616-2659
FEATURES             Location/Qualifiers
     source          1..2657
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     gene            1..2657
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /note="PTEN induced kinase 1"
                     /db_xref="GeneID:65018"
                     /db_xref="HGNC:HGNC:14581"
                     /db_xref="MIM:608309"
     exon            1..478
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..1837
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /EC_number="2.7.11.1"
                     /note="protein kinase BRPK; serine/threonine-protein
                     kinase PINK1, mitochondrial; PTEN-induced putative kinase
                     protein 1; PTEN induced putative kinase 1"
                     /codon_start=1
                     /product="serine/threonine-protein kinase PINK1,
                     mitochondrial precursor"
                     /protein_id="NP_115785.1"
                     /db_xref="CCDS:CCDS211.1"
                     /db_xref="GeneID:65018"
                     /db_xref="HGNC:HGNC:14581"
                     /db_xref="MIM:608309"
                     /translation="MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGE
                     RPGWAAGPGAEPRRVGLGLPNRLRFFRQSVAGLAARLQRQFVVRAWGCAGPCGRAVFL
                     AFGLGLGLIEEKQAESRRAVSACQEIQAIFTQKSKPGPDPLDTRRLQGFRLEEYLIGQ
                     SIGKGCSAAVYEATMPTLPQNLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAI
                     KMMWNISAGSSSEAILNTMSQELVPASRVALAGEYGAVTYRKSKRGPKQLAPHPNIIR
                     VLRAFTSSVPLLPGALVDYPDVLPSRLHPEGLGHGRTLFLVMKNYPCTLRQYLCVNTP
                     SPRLAAMMLLQLLEGVDHLVQQGIAHRDLKSDNILVELDPDGCPWLVIADFGCCLADE
                     SIGLQLPFSSWYVDRGGNGCLMAPEVSTARPGPRAVIDYSKADAWAVGAIAYEIFGLV
                     NPFYGQGKAHLESRSYQEAQLPALPESVPPDVRQLVRALLQREASKRPSARVAANVLH
                     LSLWGEHILALKNLKLDKMVGWLLQQSAATLLANRLTEKCCVETKMKMLFLANLECET
                     LCQAALLLCSWRAAL"
     exon            479..766
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /inference="alignment:Splign:2.1.0"
     exon            767..867
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /inference="alignment:Splign:2.1.0"
     exon            868..1050
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /inference="alignment:Splign:2.1.0"
     exon            1051..1214
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1342
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /inference="alignment:Splign:2.1.0"
     exon            1343..1579
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /inference="alignment:Splign:2.1.0"
     exon            1580..2657
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2440..2445
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /note="hexamer: ATTAAA"
     polyA_site      2463
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /note="major polyA site"
     regulatory      2636..2641
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
                     /note="hexamer: AGTAAA"
     polyA_site      2657
                     /gene="PINK1"
                     /gene_synonym="BRPK; PARK6"
ORIGIN      
        1 agaggcaccg ccccaagttt gttgtgaccg gcgggggacg ccggtggtgg cggcagcggc
       61 ggctgcgggg gcaccgggcc gcggcgccac catggcggtg cgacaggcgc tgggccgcgg
      121 cctgcagctg ggtcgagcgc tgctgctgcg cttcacgggc aagcccggcc gggcctacgg
      181 cttggggcgg ccgggcccgg cggcgggctg tgtccgcggg gagcgtccag gctgggccgc
      241 aggaccgggc gcggagcctc gcagggtcgg gctcgggctc cctaaccgtc tccgcttctt
      301 ccgccagtcg gtggccgggc tggcggcgcg gttgcagcgg cagttcgtgg tgcgggcctg
      361 gggctgcgcg ggcccttgcg gccgggcagt ctttctggcc ttcgggctag ggctgggcct
      421 catcgaggaa aaacaggcgg agagccggcg ggcggtctcg gcctgtcagg agatccaggc
      481 aatttttacc cagaaaagca agccggggcc tgacccgttg gacacgagac gcttgcaggg
      541 ctttcggctg gaggagtatc tgatagggca gtccattggt aagggctgca gtgctgctgt
      601 gtatgaagcc accatgccta cattgcccca gaacctggag gtgacaaaga gcaccgggtt
      661 gcttccaggg agaggcccag gtaccagtgc accaggagaa gggcaggagc gagctccggg
      721 ggcccctgcc ttccccttgg ccatcaagat gatgtggaac atctcggcag gttcctccag
      781 cgaagccatc ttgaacacaa tgagccagga gctggtccca gcgagccgag tggccttggc
      841 tggggagtat ggagcagtca cttacagaaa atccaagaga ggtcccaagc aactagcccc
      901 tcaccccaac atcatccggg ttctccgcgc cttcacctct tccgtgccgc tgctgccagg
      961 ggccctggtc gactaccctg atgtgctgcc ctcacgcctc caccctgaag gcctgggcca
     1021 tggccggacg ctgttcctcg ttatgaagaa ctatccctgt accctgcgcc agtacctttg
     1081 tgtgaacaca cccagccccc gcctcgccgc catgatgctg ctgcagctgc tggaaggcgt
     1141 ggaccatctg gttcaacagg gcatcgcgca cagagacctg aaatccgaca acatccttgt
     1201 ggagctggac ccagacggct gcccctggct ggtgatcgca gattttggct gctgcctggc
     1261 tgatgagagc atcggcctgc agttgccctt cagcagctgg tacgtggatc ggggcggaaa
     1321 cggctgtctg atggccccag aggtgtccac ggcccgtcct ggccccaggg cagtgattga
     1381 ctacagcaag gctgatgcct gggcagtggg agccatcgcc tatgaaatct tcgggcttgt
     1441 caatcccttc tacggccagg gcaaggccca ccttgaaagc cgcagctacc aagaggctca
     1501 gctacctgca ctgcccgagt cagtgcctcc agacgtgaga cagttggtga gggcactgct
     1561 ccagcgagag gccagcaaga gaccatctgc ccgagtagcc gcaaatgtgc ttcatctaag
     1621 cctctggggt gaacatattc tagccctgaa gaatctgaag ttagacaaga tggttggctg
     1681 gctcctccaa caatcggccg ccactttgtt ggccaacagg ctcacagaga agtgttgtgt
     1741 ggaaacaaaa atgaagatgc tctttctggc taacctggag tgtgaaacgc tctgccaggc
     1801 agccctcctc ctctgctcat ggagggcagc cctgtgatgt ccctgcatgg agctggtgaa
     1861 ttactaaaag aacatggcat cctctgtgtc gtgatggtct gtgaatggtg agggtgggag
     1921 tcaggagaca agacagcgca gagagggctg gttagccgga aaaggcctcg ggcttggcaa
     1981 atggaagaac ttgagtgaga gttcagtctg cagtcctctg ctcacagaca tctgaaaagt
     2041 gaatggccaa gctggtctag tagatgaggc tggactgagg aggggtaggc ctgcatccac
     2101 agagaggatc caggccaagg cactggctgt cagtggcaga gtttggctgt gacctttgcc
     2161 cctaacacga ggaactcgtt tgaagggggc agcgtagcat gtctgatttg ccacctggat
     2221 gaaggcagac atcaacatgg gtcagcacgt tcagttacgg gagtgggaaa ttacatgagg
     2281 cctgggcctc tgcgttccca agctgtgcgt tctggaccag ctactgaatt attaatctca
     2341 cttagcgaaa gtgacggatg agcagtaagt aagtaagtgt ggggatttaa acttgagggt
     2401 ttccctcctg actagcctct cttacaggaa ttgtgaaata ttaaatgcaa atttacaact
     2461 gcagatgacg tatgtgcctt gaactgaata tttggcttta agaatgattc ttatactctg
     2521 aaggtgagaa tattttgtgg gcaggtatca acattgggga agagatttca tgtctaacta
     2581 actaacttta tacatgattt ttaggaagct attgcctaaa tcagcgtcaa catgcagtaa
     2641 aggttgtctt caactga
//
