LOCUS       NM_016335               2203 bp    mRNA    linear   PRI 20-DEC-2024
DEFINITION  Homo sapiens proline dehydrogenase 1 (PRODH), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016335 NM_001368249 NM_005974 XM_006724935
VERSION     NM_016335.6
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 2203)
  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 2203)
  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 2203)
  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 2203)
  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 2203)
  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 2203)
  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 2203)
  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 2203)
  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 2203)
  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 2203)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before May 3, 2022 this sequence version replaced
            NM_001368249.2, NM_016335.5.
            
            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 (1) encodes the longer 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 :: KJ534920.1, SRR11853558.24861.1
                                           [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
            MANE Ensembl match                 :: ENST00000357068.11/
                                                  ENSP00000349577.6
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-279               AC007326.28        34216-34494         c
            280-488             AC007326.28        29191-29399         c
            489-523             AC007326.28        23889-23923         c
            524-673             AC007326.28        23252-23401         c
            674-738             AC007326.28        21316-21380         c
            739-855             AC007326.28        21018-21134         c
            856-935             AC007326.28        20526-20605         c
            936-1017            AC007326.28        19543-19624         c
            1018-1110           AC007326.28        17907-17999         c
            1111-1257           AC007326.28        17652-17798         c
            1258-1433           AC007326.28        16517-16692         c
            1434-1532           AC007326.28        15091-15189         c
            1533-1621           AC007326.28        11639-11727         c
            1622-2203           AC007326.28        10982-11563         c
FEATURES             Location/Qualifiers
     source          1..2203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2203
                     /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..279
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     CDS             7..1809
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /EC_number="1.5.5.2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 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 1
                     precursor"
                     /protein_id="NP_057419.5"
                     /db_xref="CCDS:CCDS13754.1"
                     /db_xref="GeneID:5625"
                     /db_xref="HGNC:HGNC:9453"
                     /db_xref="MIM:606810"
                     /translation="MALRRALPALRPCIPRFVPLSTAPASREQPAAGPAAVPGGGSAT
                     AVRPPVPAVDFGNAQEAYRSRRTWELARSLLVLRLCAWPALLARHEQLLYVSRKLLGQ
                     RLFNKLMKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEM
                     ESCTSAAERDGSGTNKRDKQYQAHWAFGDRRNGVISARTYFYANEAKCDSHMETFLRC
                     IEASGRVSDDGFIAIKLTALGRPQFLLQFSEVLAKWRCFFHQMAVEQGQAGLAAMDTK
                     LEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWSSLIDSRTKLSKHLVVP
                     NAQTGQLEPLLSRFTEEEELQMTRMLQRMDVLAKKATEMGVRLMVDAEQTYFQPAISR
                     LTLEMQRKFNVEKPLIFNTYQCYLKDAYDNVTLDVELARREGWCFGAKLVRGAYLAQE
                     RARAAEIGYEDPINPTYEATNAMYHRCLDYVLEELKHNAKAKVMVASHNEDTVRFALR
                     RMEELGLHPADHRVYFGQLLGMCDQISFPLGQAGYPVYKYVPYGPVMEVLPYLSRRAL
                     ENSSLMKGTHRERQLLWLELLRRLRTGNLFHRPA"
     exon            280..488
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            489..523
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            524..673
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            674..738
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            739..855
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            856..935
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1017
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1110
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            1111..1257
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1433
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1532
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            1533..1621
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     exon            1622..2203
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2184..2189
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /note="hexamer: AATAAA"
     polyA_site      2203
                     /gene="PRODH"
                     /gene_synonym="HSPOX2; PIG6; POX; PRODH1; TP53I6"
                     /note="major polyA site"
ORIGIN      
        1 cccgccatgg ctctgaggcg cgccctgccc gcgctgcgcc cctgcattcc ccgcttcgtc
       61 ccgctgtcca cggcgccggc ctcccgcgag cagcccgcag cgggcccagc ggccgtgcca
      121 ggaggtgggt cggccacggc agtgcggccg ccggtgcccg ccgtggactt cggcaacgcg
      181 caggaggcgt accgcagccg gcgaacctgg gagctggcgc ggagcctgct ggtgctgcgc
      241 ttgtgcgcct ggcccgcgct gctggcgcgc cacgagcagc tgctgtatgt ttccaggaaa
      301 cttctaggac agaggctatt caacaagctc atgaagatga ccttctatgg gcattttgta
      361 gccggggagg accaggagtc catccagccc ctgcttcggc actacagggc cttcggtgtc
      421 agcgccatcc tggactatgg agtggaggag gacctgagcc ccgaggaggc agagcacaag
      481 gagatggagt cctgcacctc agctgcggag agggatggca gtggcacgaa taagcgggac
      541 aagcaatacc aggcccactg ggccttcggg gaccgcagga atggtgtcat cagtgcccgc
      601 acctacttct acgccaatga ggccaagtgc gacagccaca tggagacatt cttgcgctgc
      661 atcgaagcct caggtagagt cagcgatgac ggcttcatag ccattaagct cacagcactg
      721 gggagacccc agtttctgct gcagttctca gaggtgctgg ccaagtggag gtgcttcttt
      781 caccaaatgg ctgtggagca agggcaggcg ggcctggctg ccatggacac caagctggag
      841 gtggcggtgc tgcaggaaag tgtcgcaaag ttgggcatcg catccagggc tgagattgag
      901 gactggttca cggcagagac cctgggagtg tctggcacca tggacctgct ggactggagc
      961 agcctcatcg acagcaggac caagctgtcc aagcacttgg tagtccccaa cgcacagaca
     1021 ggacagctgg agcccctgct gtcccggttc actgaggagg aggagctaca gatgaccagg
     1081 atgctacagc ggatggatgt cctggccaag aaagccacag agatgggcgt gcggctgatg
     1141 gtggatgccg agcagaccta cttccagccg gccatcagcc gcctgacgct ggagatgcag
     1201 cggaagttca atgtggagaa gccgctcatc ttcaacacat accagtgcta cctcaaggat
     1261 gcctatgaca atgtgaccct ggacgtggag ctggctcgcc gtgagggctg gtgttttggg
     1321 gccaagctgg tgcggggcgc atacctggcc caggagcgag cccgtgcggc agagatcggc
     1381 tatgaggacc ccatcaaccc cacgtacgag gccaccaacg ccatgtacca caggtgcctg
     1441 gactacgtgt tggaggagct gaagcacaac gccaaggcca aggtgatggt ggcctcccac
     1501 aatgaggaca cagtgcgctt tgcactgcgc aggatggagg agctgggcct gcatcctgct
     1561 gaccaccggg tgtactttgg acagctgcta ggcatgtgtg accagatcag cttcccgctg
     1621 ggccaggccg gctaccccgt gtacaagtac gtgccctatg gccccgtgat ggaggtgctg
     1681 ccctacttgt cccgccgtgc cctggagaac agcagcctca tgaagggcac ccatcgggag
     1741 cggcagctgc tgtggctgga gctcttgagg cggctccgaa ctggcaacct cttccatcgc
     1801 cctgcctagc acccgccagc acacccttag cctccagcac cccccgcccc cgcccaggcc
     1861 atcaccacag ctgcagccaa ccccatcctc acacagattc accttttttc accccacact
     1921 tgcagagctg ctggaggtga ggtcaggtgc ctcccagccc tgcccagagt atgggcactc
     1981 aggtgtgggc cgaacctgat acctgcctgg gacagccact ggaaactttt gggaactctc
     2041 ctcgaatgtg tgggcccaag gcccccacct ctgtgacccc catgtccttg gacctagagg
     2101 attgtccacc ttctgccaag gccagcccac acagcccgag ccccttgggg agcagtggcc
     2161 gggctgggga ggcctgcctg gtcaataaac cactgttcct gca
//
