LOCUS       NM_001123377            1069 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens Parkinsonism associated deglycase (PARK7), transcript
            variant 2, mRNA.
ACCESSION   NM_001123377
VERSION     NM_001123377.2
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 1069)
  AUTHORS   Nam,Y., Na,J., Ma,S.X., Park,H., Park,H., Lee,E., Kim,H.,
            Jang,S.M., Ko,H.S. and Kim,S.
  TITLE     DJ-1 protects cell death from a mitochondrial oxidative stress due
            to GBA1 deficiency
  JOURNAL   Genes Genomics 46 (5), 519-529 (2024)
   PUBMED   38460098
  REMARK    GeneRIF: DJ-1 protects cell death from a mitochondrial oxidative
            stress due to GBA1 deficiency.
REFERENCE   2  (bases 1 to 1069)
  AUTHORS   Sarkar,A. and Singh,M.P.
  TITLE     A Complex Interplay of DJ-1, LRRK2, and Nrf2 in the Regulation of
            Mitochondrial Function in Cypermethrin-Induced Parkinsonism
  JOURNAL   Mol Neurobiol 61 (2), 953-970 (2024)
   PUBMED   37674036
  REMARK    GeneRIF: A Complex Interplay of DJ-1, LRRK2, and Nrf2 in the
            Regulation of Mitochondrial Function in Cypermethrin-Induced
            Parkinsonism.
REFERENCE   3  (bases 1 to 1069)
  AUTHORS   Quesnel,A., Martin,L.D., Tarzi,C., Lenis,V.P., Coles,N., Islam,M.,
            Angione,C., Outeiro,T.F., Khundakar,A.A. and Filippou,P.S.
  TITLE     Uncovering potential diagnostic and pathophysiological roles of
            alpha-synuclein and DJ-1 in melanoma
  JOURNAL   Cancer Med 13 (1), e6900 (2024)
   PUBMED   38189631
  REMARK    GeneRIF: Uncovering potential diagnostic and pathophysiological
            roles of alpha-synuclein and DJ-1 in melanoma.
REFERENCE   4  (bases 1 to 1069)
  AUTHORS   Xie,Y., Li,Y. and Yang,M.
  TITLE     DJ-1: A Potential Biomarker Related to Prognosis, Chemoresistance,
            and Expression of Microenvironmental Chemokine in HR-Positive
            Breast Cancer
  JOURNAL   J Immunol Res 2023, 5041223 (2023)
   PUBMED   38125697
  REMARK    GeneRIF: DJ-1: A Potential Biomarker Related to Prognosis,
            Chemoresistance, and Expression of Microenvironmental Chemokine in
            HR-Positive Breast Cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1069)
  AUTHORS   Kim,M.S., Lee,W.S. and Jin,W.
  TITLE     TrkB inhibition of DJ-1 degradation promotes the growth and
            maintenance of cancer stem cell characteristics in hepatocellular
            carcinoma
  JOURNAL   Cell Mol Life Sci 80 (10), 303 (2023)
   PUBMED   37749450
  REMARK    GeneRIF: TrkB inhibition of DJ-1 degradation promotes the growth
            and maintenance of cancer stem cell characteristics in
            hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1069)
  AUTHORS   Takahashi,K., Taira,T., Niki,T., Seino,C., Iguchi-Ariga,S.M. and
            Ariga,H.
  TITLE     DJ-1 positively regulates the androgen receptor by impairing the
            binding of PIASx alpha to the receptor
  JOURNAL   J Biol Chem 276 (40), 37556-37563 (2001)
   PUBMED   11477070
REFERENCE   7  (bases 1 to 1069)
  AUTHORS   van Duijn,C.M., Dekker,M.C., Bonifati,V., Galjaard,R.J.,
            Houwing-Duistermaat,J.J., Snijders,P.J., Testers,L.,
            Breedveld,G.J., Horstink,M., Sandkuijl,L.A., van Swieten,J.C.,
            Oostra,B.A. and Heutink,P.
  TITLE     Park7, a novel locus for autosomal recessive early-onset
            parkinsonism, on chromosome 1p36
  JOURNAL   Am J Hum Genet 69 (3), 629-634 (2001)
   PUBMED   11462174
REFERENCE   8  (bases 1 to 1069)
  AUTHORS   Taira,T., Takahashi,K., Kitagawa,R., Iguchi-Ariga,S.M. and Ariga,H.
  TITLE     Molecular cloning of human and mouse DJ-1 genes and identification
            of Sp1-dependent activation of the human DJ-1 promoter
  JOURNAL   Gene 263 (1-2), 285-292 (2001)
   PUBMED   11223268
REFERENCE   9  (bases 1 to 1069)
  AUTHORS   Nagakubo,D., Taira,T., Kitaura,H., Ikeda,M., Tamai,K.,
            Iguchi-Ariga,S.M. and Ariga,H.
  TITLE     DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in
            cooperation with ras
  JOURNAL   Biochem Biophys Res Commun 231 (2), 509-513 (1997)
   PUBMED   9070310
REFERENCE   10 (bases 1 to 1069)
  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 AK312000.1, D61380.2 and
            AL034417.14.
            
            On Aug 13, 2020 this sequence version replaced NM_001123377.1.
            
            Summary: The product of this gene belongs to the peptidase C56
            family of proteins. It acts as a positive regulator of androgen
            receptor-dependent transcription. It may also function as a
            redox-sensitive chaperone, as a sensor for oxidative stress, and it
            apparently protects neurons against oxidative stress and cell
            death. Defects in this gene are the cause of autosomal recessive
            early-onset Parkinson disease 7. Two transcript variants encoding
            the same protein have been identified for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) represents the shorter
            transcript. Both variants 1 and 2 encode the same protein.
            
            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 :: BY995318.1, BG616612.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-618               AK312000.1         11-628
            619-846             D61380.2           577-804
            847-1069            AL034417.14        34127-34349
FEATURES             Location/Qualifiers
     source          1..1069
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.23"
     gene            1..1069
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /note="Parkinsonism associated deglycase"
                     /db_xref="GeneID:11315"
                     /db_xref="HGNC:HGNC:16369"
                     /db_xref="MIM:602533"
     exon            1..25
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /inference="alignment:Splign:2.1.0"
     exon            26..138
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..618
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /EC_number="3.5.1.124"
                     /note="oncogene DJ1; Parkinson disease (autosomal
                     recessive, early onset) 7; protein DJ-1; epididymis
                     secretory sperm binding protein Li 67p; protein deglycase
                     DJ-1; parkinson protein 7; maillard deglycase;
                     protein/nucleic acid deglycase DJ-1"
                     /codon_start=1
                     /product="Parkinson disease protein 7"
                     /protein_id="NP_001116849.1"
                     /db_xref="CCDS:CCDS93.1"
                     /db_xref="GeneID:11315"
                     /db_xref="HGNC:HGNC:16369"
                     /db_xref="MIM:602533"
                     /translation="MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPV
                     QCSRDVVICPDASLEDAKKEGPYDVVVLPGGNLGAQNLSESAAVKEILKEQENRKGLI
                     AAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGT
                     SFEFALAIVEALNGKEVAAQVKAPLVLKD"
     exon            139..240
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /inference="alignment:Splign:2.1.0"
     exon            241..300
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /inference="alignment:Splign:2.1.0"
     exon            301..370
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /inference="alignment:Splign:2.1.0"
     exon            371..457
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /inference="alignment:Splign:2.1.0"
     exon            458..1069
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      822..827
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /note="hexamer: AATAAA"
     polyA_site      846
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /note="major polyA site"
     regulatory      886..891
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /note="hexamer: ATTAAA"
     polyA_site      907
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
     regulatory      1050..1055
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
                     /note="hexamer: ATTAAA"
     polyA_site      1069
                     /gene="PARK7"
                     /gene_synonym="DJ-1; DJ1; GATD2; HEL-S-67p"
ORIGIN      
        1 gcgttcattt tcagcctggt gtggggcttg taaacatata acataaaaat ggcttccaaa
       61 agagctctgg tcatcctggc taaaggagca gaggaaatgg agacggtcat ccctgtagat
      121 gtcatgaggc gagctgggat taaggtcacc gttgcaggcc tggctggaaa agacccagta
      181 cagtgtagcc gtgatgtggt catttgtcct gatgccagcc ttgaagatgc aaaaaaagag
      241 ggaccatatg atgtggtggt tctaccagga ggtaatctgg gcgcacagaa tttatctgag
      301 tctgctgctg tgaaggagat actgaaggag caggaaaacc ggaagggcct gatagccgcc
      361 atctgtgcag gtcctactgc tctgttggct catgaaatag gttttggaag taaagttaca
      421 acacaccctc ttgctaaaga caaaatgatg aatggaggtc attacaccta ctctgagaat
      481 cgtgtggaaa aagacggcct gattcttaca agccgggggc ctgggaccag cttcgagttt
      541 gcgcttgcaa ttgttgaagc cctgaatggc aaggaggtgg cggctcaagt gaaggctcca
      601 cttgttctta aagactagag cagcgaactg cgacgatcac ttagagaaac aggccgttag
      661 gaatccattc tcactgtgtt cgctctaaac aaaacagtgg taggttaatg tgttcagaag
      721 tcgctgtcct tactactttt gcggaagtat ggaagtcaca actacacaga gatttctcag
      781 cctacaaatt gtgtctatac atttctaagc cttgtttgca gaataaacag ggcatttagc
      841 aaactactga ttgtttcttg ttttgtctct catttctttt gtgaaattaa attccgtatc
      901 accttcattt gcagctctta actgtccata tggcactgaa ataaaagaac agtgaccaca
      961 ttttacacag caaggaggaa aggcatacaa acagaattta agaggcttgt gattttctct
     1021 gcttattagc tgtgtgtttt taatgtgcta ttaaaaaata ccaatgagg
//
