LOCUS       NM_001195226            2088 bp    mRNA    linear   PRI 20-DEC-2024
DEFINITION  Homo sapiens proline dehydrogenase 1 (PRODH), transcript variant 2,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001195226
VERSION     NM_001195226.2
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 2088)
  AUTHORS   Grossi,S., Berno,E., Chiofalo,P., Chiaravalli,A.M., Cinquetti,R.,
            Bruno,A., Palano,M.T., Gallazzi,M., La Rosa,S., Sessa,F.,
            Acquati,F. and Campomenosi,P.
  TITLE     Proline Dehydrogenase (PRODH) Is Expressed in Lung Adenocarcinoma
            and Modulates Cell Survival and 3D Growth by Inducing Cellular
            Senescence
  JOURNAL   Int J Mol Sci 25 (2), 714 (2024)
   PUBMED   38255788
  REMARK    GeneRIF: Proline Dehydrogenase (PRODH) Is Expressed in Lung
            Adenocarcinoma and Modulates Cell Survival and 3D Growth by
            Inducing Cellular Senescence.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2088)
  AUTHORS   Shen,J., Wang,Q., Lu,F., Xu,H., Wang,P. and Feng,Y.
  TITLE     Prognostic and immunomodulatory roles of schizophrenia-associated
            genes HTR2A, COMT, and PRODH in pan-cancer analysis and glioma
            survival prediction model
  JOURNAL   Front Immunol 14, 1201252 (2023)
   PUBMED   37564635
  REMARK    GeneRIF: Prognostic and immunomodulatory roles of
            schizophrenia-associated genes HTR2A, COMT, and PRODH in pan-cancer
            analysis and glioma survival prediction model.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2088)
  AUTHORS   Fricke-Galindo,I., Perez-Aldana,B.E., Macias-Kauffer,L.R.,
            Gonzalez-Arredondo,S., Davila-Ortiz de Montellano,D.,
            Avina-Cervantes,C.L., Lopez-Lopez,M., Rodriguez-Agudelo,Y. and
            Monroy-Jaramillo,N.
  TITLE     Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive
            Performance of Patients with Schizophrenia
  JOURNAL   Arch Med Res 53 (4), 388-398 (2022)
   PUBMED   35367090
  REMARK    GeneRIF: Impact of COMT, PRODH and DISC1 Genetic Variants on
            Cognitive Performance of Patients with Schizophrenia.
REFERENCE   4  (bases 1 to 2088)
  AUTHORS   Huynh,T.Y.L., Oscilowska,I., Saiz,J., Niziol,M., Baszanowska,W.,
            Barbas,C. and Palka,J.
  TITLE     Metformin Treatment or PRODH/POX-Knock out Similarly Induces
            Apoptosis by Reprograming of Amino Acid Metabolism, TCA, Urea Cycle
            and Pentose Phosphate Pathway in MCF-7 Breast Cancer Cells
  JOURNAL   Biomolecules 11 (12), 1888 (2021)
   PUBMED   34944532
  REMARK    GeneRIF: Metformin Treatment or PRODH/POX-Knock out Similarly
            Induces Apoptosis by Reprograming of Amino Acid Metabolism, TCA,
            Urea Cycle and Pentose Phosphate Pathway in MCF-7 Breast Cancer
            Cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2088)
  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   6  (bases 1 to 2088)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
REFERENCE   7  (bases 1 to 2088)
  AUTHORS   Karayiorgou,M., Morris,M.A., Morrow,B., Shprintzen,R.J.,
            Goldberg,R., Borrow,J., Gos,A., Nestadt,G., Wolyniec,P.S.,
            Lasseter,V.K. et al.
  TITLE     Schizophrenia susceptibility associated with interstitial deletions
            of chromosome 22q11
  JOURNAL   Proc Natl Acad Sci U S A 92 (17), 7612-7616 (1995)
   PUBMED   7644464
REFERENCE   8  (bases 1 to 2088)
  AUTHORS   Lindsay,E.A., Morris,M.A., Gos,A., Nestadt,G., Wolyniec,P.S.,
            Lasseter,V.K., Shprintzen,R., Antonarakis,S.E., Baldini,A. and
            Pulver,A.E.
  TITLE     Schizophrenia and chromosomal deletions within 22q11.2
  JOURNAL   Am J Hum Genet 56 (6), 1502-1503 (1995)
   PUBMED   7762575
REFERENCE   9  (bases 1 to 2088)
  AUTHORS   Coon,H., Jensen,S., Holik,J., Hoff,M., Myles-Worsley,M.,
            Reimherr,F., Wender,P., Waldo,M., Freedman,R., Leppert,M. et al.
  TITLE     Genomic scan for genes predisposing to schizophrenia
  JOURNAL   Am J Med Genet 54 (1), 59-71 (1994)
   PUBMED   7909992
REFERENCE   10 (bases 1 to 2088)
  AUTHORS   Scambler,P.J., Kelly,D., Lindsay,E., Williamson,R., Goldberg,R.,
            Shprintzen,R., Wilson,D.I., Goodship,J.A., Cross,I.E. and Burn,J.
  TITLE     Velo-cardio-facial syndrome associated with chromosome 22 deletions
            encompassing the DiGeorge locus
  JOURNAL   Lancet 339 (8802), 1138-1139 (1992)
   PUBMED   1349369
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007326.28.
            
            On Jan 31, 2019 this sequence version replaced NM_001195226.1.
            
            Summary: This gene encodes a mitochondrial protein that catalyzes
            the first step in proline degradation. Mutations in this gene are
            associated with hyperprolinemia type 1 and susceptibility to
            schizophrenia 4 (SCZD4). This gene is located on chromosome
            22q11.21, a region which has also been associated with the
            contiguous gene deletion syndromes, DiGeorge and CATCH22.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Aug
            2010].
            
            Transcript Variant: This variant (2) is missing an internal exon at
            the 5' end compared to variant 1, resulting in translation
            initiation from an in-frame downstream AUG and an isoform (2) with
            a shorter N-terminus compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: BC118597.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-164               AC007326.28        34591-34754         c
            165-373             AC007326.28        29191-29399         c
            374-408             AC007326.28        23889-23923         c
            409-558             AC007326.28        23252-23401         c
            559-623             AC007326.28        21316-21380         c
            624-740             AC007326.28        21018-21134         c
            741-820             AC007326.28        20526-20605         c
            821-902             AC007326.28        19543-19624         c
            903-995             AC007326.28        17907-17999         c
            996-1142            AC007326.28        17652-17798         c
            1143-1318           AC007326.28        16517-16692         c
            1319-1417           AC007326.28        15091-15189         c
            1418-1506           AC007326.28        11639-11727         c
            1507-2088           AC007326.28        10982-11563         c
FEATURES             Location/Qualifiers
     source          1..2088
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2088
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /note="proline dehydrogenase 1"
                     /db_xref="GeneID:5625"
                     /db_xref="HGNC:HGNC:9453"
                     /db_xref="MIM:606810"
     exon            1..164
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            165..373
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     CDS             216..1694
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /EC_number="1.5.5.2"
                     /note="isoform 2 is encoded by transcript variant 2; tumor
                     protein p53 inducible protein 6; proline oxidase,
                     mitochondrial; proline dehydrogenase 1, mitochondrial;
                     proline oxidase 2; proline dehydrogenase (oxidase) 1;
                     p53-induced gene 6 protein; p53 Inducible gene 6"
                     /codon_start=1
                     /product="proline dehydrogenase 1, mitochondrial isoform
                     2"
                     /protein_id="NP_001182155.2"
                     /db_xref="CCDS:CCDS56223.1"
                     /db_xref="GeneID:5625"
                     /db_xref="HGNC:HGNC:9453"
                     /db_xref="MIM:606810"
                     /translation="MKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSP
                     EEAEHKEMESCTSAAERDGSGTNKRDKQYQAHWAFGDRRNGVISARTYFYANEAKCDS
                     HMETFLRCIEASGRVSDDGFIAIKLTALGRPQFLLQFSEVLAKWRCFFHQMAVEQGQA
                     GLAAMDTKLEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWSSLIDSRTK
                     LSKHLVVPNAQTGQLEPLLSRFTEEEELQMTRMLQRMDVLAKKATEMGVRLMVDAEQT
                     YFQPAISRLTLEMQRKFNVEKPLIFNTYQCYLKDAYDNVTLDVELARREGWCFGAKLV
                     RGAYLAQERARAAEIGYEDPINPTYEATNAMYHRCLDYVLEELKHNAKAKVMVASHNE
                     DTVRFALRRMEELGLHPADHRVYFGQLLGMCDQISFPLGQAGYPVYKYVPYGPVMEVL
                     PYLSRRALENSSLMKGTHRERQLLWLELLRRLRTGNLFHRPA"
     exon            374..408
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            409..558
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            559..623
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            624..740
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            741..820
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            821..902
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            903..995
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1142
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1318
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            1319..1417
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            1418..1506
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..2088
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2069..2074
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /note="hexamer: AATAAA"
     polyA_site      2088
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /note="major polyA site"
ORIGIN      
        1 ggtctcactc tgttgctgtc ttcacggaga gcaggagcag aggctttgag aagccagtgg
       61 gccttggcct cagccctgcc ggcagagggt ccccaccatg cagctgaagt gccagggtgc
      121 ttgtgaagtc taagcccttg tctggcattt gtcaggaata taggctgctg tatgtttcca
      181 ggaaacttct aggacagagg ctattcaaca agctcatgaa gatgaccttc tatgggcatt
      241 ttgtagccgg ggaggaccag gagtccatcc agcccctgct tcggcactac agggccttcg
      301 gtgtcagcgc catcctggac tatggagtgg aggaggacct gagccccgag gaggcagagc
      361 acaaggagat ggagtcctgc acctcagctg cggagaggga tggcagtggc acgaataagc
      421 gggacaagca ataccaggcc cactgggcct tcggggaccg caggaatggt gtcatcagtg
      481 cccgcaccta cttctacgcc aatgaggcca agtgcgacag ccacatggag acattcttgc
      541 gctgcatcga agcctcaggt agagtcagcg atgacggctt catagccatt aagctcacag
      601 cactggggag accccagttt ctgctgcagt tctcagaggt gctggccaag tggaggtgct
      661 tctttcacca aatggctgtg gagcaagggc aggcgggcct ggctgccatg gacaccaagc
      721 tggaggtggc ggtgctgcag gaaagtgtcg caaagttggg catcgcatcc agggctgaga
      781 ttgaggactg gttcacggca gagaccctgg gagtgtctgg caccatggac ctgctggact
      841 ggagcagcct catcgacagc aggaccaagc tgtccaagca cttggtagtc cccaacgcac
      901 agacaggaca gctggagccc ctgctgtccc ggttcactga ggaggaggag ctacagatga
      961 ccaggatgct acagcggatg gatgtcctgg ccaagaaagc cacagagatg ggcgtgcggc
     1021 tgatggtgga tgccgagcag acctacttcc agccggccat cagccgcctg acgctggaga
     1081 tgcagcggaa gttcaatgtg gagaagccgc tcatcttcaa cacataccag tgctacctca
     1141 aggatgccta tgacaatgtg accctggacg tggagctggc tcgccgtgag ggctggtgtt
     1201 ttggggccaa gctggtgcgg ggcgcatacc tggcccagga gcgagcccgt gcggcagaga
     1261 tcggctatga ggaccccatc aaccccacgt acgaggccac caacgccatg taccacaggt
     1321 gcctggacta cgtgttggag gagctgaagc acaacgccaa ggccaaggtg atggtggcct
     1381 cccacaatga ggacacagtg cgctttgcac tgcgcaggat ggaggagctg ggcctgcatc
     1441 ctgctgacca ccgggtgtac tttggacagc tgctaggcat gtgtgaccag atcagcttcc
     1501 cgctgggcca ggccggctac cccgtgtaca agtacgtgcc ctatggcccc gtgatggagg
     1561 tgctgcccta cttgtcccgc cgtgccctgg agaacagcag cctcatgaag ggcacccatc
     1621 gggagcggca gctgctgtgg ctggagctct tgaggcggct ccgaactggc aacctcttcc
     1681 atcgccctgc ctagcacccg ccagcacacc cttagcctcc agcacccccc gcccccgccc
     1741 aggccatcac cacagctgca gccaacccca tcctcacaca gattcacctt ttttcacccc
     1801 acacttgcag agctgctgga ggtgaggtca ggtgcctccc agccctgccc agagtatggg
     1861 cactcaggtg tgggccgaac ctgatacctg cctgggacag ccactggaaa cttttgggaa
     1921 ctctcctcga atgtgtgggc ccaaggcccc cacctctgtg acccccatgt ccttggacct
     1981 agaggattgt ccaccttctg ccaaggccag cccacacagc ccgagcccct tggggagcag
     2041 tggccgggct ggggaggcct gcctggtcaa taaaccactg ttcctgca
//
