LOCUS       NM_021232               1473 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens proline dehydrogenase 2 (PRODH2), transcript variant
            1, mRNA.
ACCESSION   NM_021232 XM_017027084
VERSION     NM_021232.2
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 1473)
  AUTHORS   Summitt,C.B., Johnson,L.C., Jonsson,T.J., Parsonage,D., Holmes,R.P.
            and Lowther,W.T.
  TITLE     Proline dehydrogenase 2 (PRODH2) is a hydroxyproline dehydrogenase
            (HYPDH) and molecular target for treating primary hyperoxaluria
  JOURNAL   Biochem J 466 (2), 273-281 (2015)
   PUBMED   25697095
  REMARK    GeneRIF: Data suggest that residues 157-515 of PRODH2 contain
            catalytic core with one FAD molecule; PRODH2 most likely utilizes
            coenzyme Q10 as terminal electron acceptor in vivo; PRODH2 exhibits
            substrate specificity for hydroxyproline over proline.
REFERENCE   2  (bases 1 to 1473)
  AUTHORS   Raimondi,I., Ciribilli,Y., Monti,P., Bisio,A., Pollegioni,L.,
            Fronza,G., Inga,A. and Campomenosi,P.
  TITLE     P53 family members modulate the expression of PRODH, but not
            PRODH2, via intronic p53 response elements
  JOURNAL   PLoS One 8 (7), e69152 (2013)
   PUBMED   23861960
  REMARK    GeneRIF: PRODH, but not PRODH2, expression is under the control of
            p53 family members, specifically p53 and p73.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1473)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1473)
  AUTHORS   Cooper,S.K., Pandhare,J., Donald,S.P. and Phang,J.M.
  TITLE     A novel function for hydroxyproline oxidase in apoptosis through
            generation of reactive oxygen species
  JOURNAL   J Biol Chem 283 (16), 10485-10492 (2008)
   PUBMED   18287100
  REMARK    GeneRIF: OH-POX plays a role analogous to POX in growth regulation,
            ROS generation, and activation of the apoptotic cascade
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U95090.1 and AC002398.1.
            
            On or before Mar 5, 2020 this sequence version replaced
            XM_017027084.2, NM_021232.1.
            
            Summary: The protein encoded by this gene catalyzes the first step
            in the catabolism of trans-4-hydroxy-L-proline, an amino acid
            derivative obtained through food intake and collagen turnover. One
            of the downstream products of this catabolism is glyoxylate, which
            in people with disorders of glyoxalate metabolism can lead to an
            increase in oxalate levels and the formation of calcium-oxalate
            kidney stones. Therefore, this gene may serve as a therapeutic
            target against primary hyperoxalurias (PH). This gene is similar to
            proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that
            catalyzes the first step in proline catabolism. [provided by
            RefSeq, Jan 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC039710.1, SRR14038197.13394.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000653904.2/ ENSP00000499779.1
            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
            1-214               U95090.1           14232-14445         c
            215-411             U95090.1           13960-14156         c
            412-550             U95090.1           13734-13872         c
            551-637             U95090.1           13562-13648         c
            638-718             U95090.1           8641-8721           c
            719-874             U95090.1           8275-8430           c
            875-1041            U95090.1           8030-8196           c
            1042-1152           U95090.1           4568-4678           c
            1153-1238           U95090.1           3791-3876           c
            1239-1431           U95090.1           1630-1822           c
            1432-1473           AC002398.1         49593-49634         c
FEATURES             Location/Qualifiers
     source          1..1473
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..1473
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /note="proline dehydrogenase 2"
                     /db_xref="GeneID:58510"
                     /db_xref="HGNC:HGNC:17325"
                     /db_xref="MIM:616377"
     exon            1..214
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1423
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /EC_number="1.5.5.2"
                     /EC_number="1.5.5.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     kidney and liver proline oxidase 1; probable proline
                     dehydrogenase 2; probable proline oxidase 2; proline
                     dehydrogenase (oxidase) 2; hydroxyproline dehydrogenase"
                     /codon_start=1
                     /product="hydroxyproline dehydrogenase isoform 1"
                     /protein_id="NP_067055.2"
                     /db_xref="CCDS:CCDS12478.2"
                     /db_xref="GeneID:58510"
                     /db_xref="HGNC:HGNC:17325"
                     /db_xref="MIM:616377"
                     /translation="MLRTCYVLCSQAGPPSRGWQSLSFDGGAFHLKGTGELTRALLVL
                     RLCAWPPLVTHGLLLQAWSRRLLGSRLSGAFLRASVYGQFVAGETAEEVKGCVQQLRT
                     LSLRPLLAVPTEEEPDSAAKSGEAWYEGNLGAMLRCVDLSRGLLEPPSLAEASLMQLK
                     VTALTSTRLCKELASWVRRPGASLELSPERLAEAMDSGQNLQVSCLNAEQNQHLRASL
                     SRLHRVAQYARAQHVRLLVDAEYTSLNPALSLLVAALAVRWNSPGEGGPWVWNTYQAC
                     LKDTFERLGRDAEAAHRAGLAFGVKLVRGAYLDKERAVAQLHGMEDPTQPDYEATSQS
                     YSRCLELMLTHVARHGPMCHLMVASHNEESVRQATKRMWELGIPLDGTVCFGQLLGMC
                     DHVSLALGQAGYVVYKSIPYGSLEEVIPYLIRRAQENRSVLQGARREQELLSQELWRR
                     LLPGCRRIPH"
     exon            215..411
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /inference="alignment:Splign:2.1.0"
     exon            412..550
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /inference="alignment:Splign:2.1.0"
     exon            551..637
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /inference="alignment:Splign:2.1.0"
     exon            638..718
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /inference="alignment:Splign:2.1.0"
     exon            719..874
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /inference="alignment:Splign:2.1.0"
     exon            875..1041
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..1152
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1238
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1473
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1448..1453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /note="hexamer: AATAAA"
     polyA_site      1473
                     /gene="PRODH2"
                     /gene_synonym="HSPOX1; HYPDH"
                     /note="major polyA site"
ORIGIN      
        1 agagaacctt ccctggtgtg gaggcagcca gggacccagg atgctccgga cctgttacgt
       61 gctctgttcc caagctggtc ccccctccag gggctggcag tccctgagct ttgatggcgg
      121 ggccttccac cttaagggca caggagagct gacacgggcc ttgctggttc tccggctgtg
      181 tgcctggccc ccactcgtca ctcacgggct gttgctccag gcctggtctc ggcgactcct
      241 gggctcccgg ctctcaggcg catttctccg agcatccgtc tatgggcagt ttgtggctgg
      301 tgagacagca gaggaggtga agggctgcgt gcagcagctg cggaccctca gcctccgacc
      361 actgctggca gtgcccactg aggaggagcc ggactctgct gccaagagtg gtgaggcgtg
      421 gtatgagggg aacctcggtg ctatgctgcg gtgtgtggac ctgtcacggg gcctcctgga
      481 gccccccagc ctggctgagg ccagcctcat gcagctgaag gtgacggcgc tgaccagtac
      541 tcggctctgt aaggagctag cctcgtgggt cagaaggcca ggagcctcct tggagctgag
      601 ccccgagagg ctggctgaag ctatggactc tgggcagaac ctccaggtct cctgcctcaa
      661 tgctgagcag aaccagcacc tccgggcctc cctcagccgc ctgcatcggg tggcacagta
      721 tgcccgggcc cagcacgtgc ggctcctggt ggatgcggag tacacctcac tgaaccctgc
      781 gctctcgctg ctggtggctg ccctggctgt gcgctggaac agcccgggtg aaggcgggcc
      841 ctgggtgtgg aacacctacc aggcctgtct aaaggacaca ttcgagcggc tggggaggga
      901 tgcagaggct gcgcacaggg ccggcctggc cttcggagtg aagctggtac gaggtgcata
      961 tctggacaag gagagagcgg tggcccagct ccatgggatg gaagacccca ctcagcctga
     1021 ctatgaggcc accagtcaga gttacagccg ctgcctggaa ctgatgctga cgcacgtggc
     1081 ccgccatggc cccatgtgcc acctcatggt ggcttcccac aatgaggaat ctgttcgcca
     1141 ggcaaccaag cgcatgtggg agctgggcat tcctctggat gggactgtct gtttcggaca
     1201 acttctgggc atgtgtgacc acgtctctct agcactgggg caggccggct atgtagtgta
     1261 taagtccatt ccctatggct ccttggagga ggtaatcccc tacctgatcc ggagggccca
     1321 ggagaaccgg agcgtgcttc agggtgcccg cagggaacag gagctgctca gccaagaact
     1381 gtggcggcgg ctgctgccag gatgccgaag gataccccac tagcacccct gagggggtca
     1441 tgtggtcaat aaaagtcctt aggtgctgcc taa
//
