LOCUS       NM_007198               2507 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens pyridoxal phosphate binding protein (PLPBP),
            transcript variant 2, mRNA.
ACCESSION   NM_007198
VERSION     NM_007198.4
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 2507)
  AUTHORS   Ciapaite,J., van Roermund,C.W.T., Bosma,M., Gerrits,J.,
            Houten,S.M., IJlst,L., Waterham,H.R., van Karnebeek,C.D.M.,
            Wanders,R.J.A., Zwartkruis,F.J.T., Jans,J.J. and
            Verhoeven-Duif,N.M.
  TITLE     Maintenance of cellular vitamin B6 levels and mitochondrial
            oxidative function depend on pyridoxal 5'-phosphate homeostasis
            protein
  JOURNAL   J Biol Chem 299 (9), 105047 (2023)
   PUBMED   37451483
  REMARK    GeneRIF: Maintenance of cellular vitamin B6 levels and
            mitochondrial oxidative function depend on pyridoxal 5'-phosphate
            homeostasis protein.
REFERENCE   2  (bases 1 to 2507)
  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   3  (bases 1 to 2507)
  AUTHORS   Plecko,B., Zweier,M., Begemann,A., Mathis,D., Schmitt,B.,
            Striano,P., Baethmann,M., Vari,M.S., Beccaria,F., Zara,F.,
            Crowther,L.M., Joset,P., Sticht,H., Papuc,S.M. and Rauch,A.
  TITLE     Confirmation of mutations in PROSC as a novel cause of vitamin B 6
            -dependent epilepsy
  JOURNAL   J Med Genet 54 (12), 809-814 (2017)
   PUBMED   28391250
  REMARK    GeneRIF: We therefore confirm PROSC as a novel gene for
            vitamin-B6-dependent epilepsy and delineate a non-specific plasma
            vitamin B6 profile under pyridoxine treatment.
REFERENCE   4  (bases 1 to 2507)
  AUTHORS   Tremino,L., Forcada-Nadal,A., Contreras,A. and Rubio,V.
  TITLE     Studies on cyanobacterial protein PipY shed light on structure,
            potential functions, and vitamin B6 -dependent epilepsy
  JOURNAL   FEBS Lett 591 (20), 3431-3442 (2017)
   PUBMED   28914444
  REMARK    GeneRIF: Exploiting the universality of the Synechococcus elongatus
            COG0325 (PiPY) functions, it has been used in site-directed
            mutagenesis studies to shed light on disease causation by
            epilepsy-associated mutations in the human COG0325 gene PROSC.
REFERENCE   5  (bases 1 to 2507)
  AUTHORS   Darin,N., Reid,E., Prunetti,L., Samuelsson,L., Husain,R.A.,
            Wilson,M., El Yacoubi,B., Footitt,E., Chong,W.K., Wilson,L.C.,
            Prunty,H., Pope,S., Heales,S., Lascelles,K., Champion,M.,
            Wassmer,E., Veggiotti,P., de Crecy-Lagard,V., Mills,P.B. and
            Clayton,P.T.
  TITLE     Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis
            and Cause Vitamin-B6-Dependent Epilepsy
  JOURNAL   Am J Hum Genet 99 (6), 1325-1337 (2016)
   PUBMED   27912044
  REMARK    GeneRIF: studies suggest that PROSC is involved in intracellular
            homeostatic regulation of pyridoxal 5'-phosphate, supplying this
            cofactor to apoenzymes while minimizing any toxic side reactions
REFERENCE   6  (bases 1 to 2507)
  AUTHORS   Roessler,S., Long,E.L., Budhu,A., Chen,Y., Zhao,X., Ji,J.,
            Walker,R., Jia,H.L., Ye,Q.H., Qin,L.X., Tang,Z.Y., He,P.,
            Hunter,K.W., Thorgeirsson,S.S., Meltzer,P.S. and Wang,X.W.
  TITLE     Integrative genomic identification of genes on 8p associated with
            hepatocellular carcinoma progression and patient survival
  JOURNAL   Gastroenterology 142 (4), 957-966 (2012)
   PUBMED   22202459
REFERENCE   7  (bases 1 to 2507)
  AUTHORS   Bowling,F.G.
  TITLE     Pyridoxine supply in human development
  JOURNAL   Semin Cell Dev Biol 22 (6), 611-618 (2011)
   PUBMED   21664474
  REMARK    Review article
REFERENCE   8  (bases 1 to 2507)
  AUTHORS   Ikegawa,S., Isomura,M., Koshizuka,Y. and Nakamura,Y.
  TITLE     Cloning and characterization of human and mouse PROSC (proline
            synthetase co-transcribed) genes
  JOURNAL   J Hum Genet 44 (5), 337-342 (1999)
   PUBMED   10496079
REFERENCE   9  (bases 1 to 2507)
  AUTHORS   Al-Shekaili,H., Ciapaite,J., van Karnebeek,C. and Pena,I.
  TITLE     PLPBP Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36795901
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC012334.1, AL136616.1 and
            BM984988.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_007198.3.
            
            Summary: This gene encodes a pyridoxal 5'-phosphate binding protein
            involved in the homeostatic regulation of intracellular pyridoxal
            5'-phosphate. This gene has a tumor suppressive effect on
            hepatocellular carcinoma and other solid tumors of epithelial
            origin. Naturally occurring mutations in this gene are associated
            with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar
            2017].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region compared to variant 1. The encoded isoform
            (2) is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC012334.1, AK291135.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328195.8/ ENSP00000333551.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1507              BC012334.1         53-1559
            1508-1544           AL136616.1         1550-1586
            1545-2504           BC012334.1         1597-2556
            2505-2507           BM984988.1         18-20               c
FEATURES             Location/Qualifiers
     source          1..2507
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.23"
     gene            1..2507
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /note="pyridoxal phosphate binding protein"
                     /db_xref="GeneID:11212"
                     /db_xref="HGNC:HGNC:9457"
                     /db_xref="MIM:604436"
     exon            1..114
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..843
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /note="isoform 2 is encoded by transcript variant 2;
                     proline synthetase co-transcribed bacterial homolog
                     protein; proline synthase co-transcribed bacterial homolog
                     protein; PLP homeostasis protein; pyridoxal phosphate
                     homeostasis protein"
                     /codon_start=1
                     /product="pyridoxal phosphate homeostasis protein isoform
                     2"
                     /protein_id="NP_009129.1"
                     /db_xref="CCDS:CCDS6096.1"
                     /db_xref="GeneID:11212"
                     /db_xref="HGNC:HGNC:9457"
                     /db_xref="MIM:604436"
                     /translation="MWRAGSMSAELGVGCALRAVNERVQQAVARRPRDLPAIQPRLVA
                     VSKTKPADMVIEAYGHGQRTFGENYVQELLEKASNPKILSLCPEIKWHFIGHLQKQNV
                     NKLMAVPNLFMLETVDSVKLADKVNSSWQRKGSPERLKVMVQINTSGEESKHGLPPSE
                     TIAIVEHINAKCPNLEFVGLMTIGSFGHDLSQGPNPDFQLLLSLREELCKKLNIPADQ
                     VELSMGMSADFQHAVEVGSTNVRIGSTIFGERDYSKKPTPDKCAADVKAPLEVAQEH"
     exon            115..222
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /inference="alignment:Splign:2.1.0"
     exon            223..258
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /inference="alignment:Splign:2.1.0"
     exon            259..334
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /inference="alignment:Splign:2.1.0"
     exon            335..469
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /inference="alignment:Splign:2.1.0"
     exon            470..612
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /inference="alignment:Splign:2.1.0"
     exon            613..711
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /inference="alignment:Splign:2.1.0"
     exon            712..2507
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2437..2442
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /note="hexamer: AATAAA"
     polyA_site      2461
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /note="major polyA site"
     regulatory      2485..2490
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
                     /note="hexamer: ATTAAA"
     polyA_site      2507
                     /gene="PLPBP"
                     /gene_synonym="EPEO1; EPVB6D; PROSC"
ORIGIN      
        1 gtcggtcccc gggggatgtg gagagctggc agcatgtcgg ccgagctggg agtcgggtgc
       61 gcattgcggg cggtgaacga gcgcgtgcag caggctgtgg cgcggcggcc gcgggatctc
      121 ccagccatcc agccccggct agtggcggtc agcaaaacca aacctgcaga catggtgatc
      181 gaggcctatg gacatgggca gcgcactttt ggcgagaact acgttcagga actgctagaa
      241 aaagcatcaa atcccaaaat tctgtctttg tgtcctgaga tcaaatggca cttcattggc
      301 cacctacaga aacaaaatgt caacaaattg atggctgtcc ccaatctctt catgctggaa
      361 acagtggatt ctgtgaagtt ggcagacaaa gtgaacagtt cctggcagag aaaaggttct
      421 cctgaaaggt taaaggttat ggtccagatt aacaccagcg gagaagagag taaacatggc
      481 cttccacctt cagagaccat agccatcgtg gagcacataa acgccaagtg tcctaacctg
      541 gagtttgtgg ggctgatgac cataggaagc tttgggcatg atcttagtca aggaccaaat
      601 ccagacttcc agctgttatt gtccctccgg gaggagctgt gtaaaaagct gaacatccct
      661 gctgaccagg ttgagctgag catgggcatg tccgcggatt tccagcatgc ggttgaagta
      721 ggatctacaa atgtccgaat aggaagcacg atttttggag agcgggatta ctcaaagaaa
      781 cccaccccgg acaagtgcgc agcagacgtg aaggccccgc tggaggtggc acaggagcac
      841 tgagccaggg aatactgaga gcactaacta tgcactaacc tagattttca tttcgatatt
      901 ccctgtgtcc cagcgcagtc ctgctctcct gtgacctgtg gagagcacta atgatcacgt
      961 gtgttgatgg aaaccatctg tgcttagtct ctgacatagg aagcttgctt caggcaatgg
     1021 ctttggattg agtttgagaa attcaaacat ttctgcagaa cagataccaa atcaatagct
     1081 aggaatcatg ttcaatattg aattctgccc aggagcatga actgatccat gaatgccttt
     1141 tccaggttaa aatttggtca ctgatgccta taatcgtgga agtcagaggg attccccttt
     1201 ttcatctcat tttaatagga aaattcctta tggttaacat ctccctacaa actcctacta
     1261 cgtcgtctaa attgctgctc tggaataagg tgatttctgc ccccagattc ttccctagcc
     1321 ggtagatacg tgaagatatt cccaactgtg gaatggcagt gtaggtagct tcaggaaatg
     1381 gctcaggtta attctcaaaa cacaaattgt tgctggccag gcatggtgac tcatgcctgt
     1441 aatcccagca atttgggaga cagaggcgga aggatcacct gagcctagga gttcaagacc
     1501 agcctcagca acagcaggag ccccaccccc cgtctctaca aaaaaattta aaaattaact
     1561 gggcatggtg gctgaggtgg aagaatggaa gaatcacttg agcccaggag tttgaggctg
     1621 cagtgagcta tgattgcacc actgtactcc tgccttaaaa aaaaaaaaaa aatcccaata
     1681 gtccatgaag gctttgatct cttgggaagt tcttcataga tgctgtcaca tttcttaaag
     1741 caacctttta atatgcagat aatacccccc aactttttta gagacagcct gtctcttaaa
     1801 aaaaaaatta atttggtagt gagagcttgt gtcactgcca ctctgtttta tccctgaaat
     1861 taaaggataa cataaggagg acttgggcct ttctgacatc atcctgaaga gacaggactt
     1921 tgcgtttttc ctctgggacc tacagtgatg agaatttaat gattatctcc tccactataa
     1981 tcctctttag ggtgattttt taaatcaaaa cccagtgaat ctcattactc ctaagaaacg
     2041 aaagattcct tcaaagcctt ttcaggcaca tggtttcaac aaagcctggc tttgacattc
     2101 cttgtcctga ggagcacttt ccaggcatag ttacagcttc cccactgtat ttacaagcca
     2161 gaattgtgca actcttctgg atcattaata aagtagcaag atcctcaaaa aacccaaaaa
     2221 caccattctc taatagtcat gacaaatggc ttcagtatgg cttgtttttt attttccaga
     2281 tggctttttc tcttattttt tgaagcccca gtctttgatt ttacaggtaa ctttcaaaac
     2341 atcatgatgc tgccaaatgt acttttgtaa acttaaacat tatgattcct gtattatttc
     2401 agtgagagct acagtgtgat atttcagagt ctattaaata aaaatgtgag tttgaattac
     2461 accatctgtg ccaattacaa agcaattaaa agatttattt tttatga
//
