LOCUS       NM_144563               1813 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA.
ACCESSION   NM_144563
VERSION     NM_144563.3
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 1813)
  AUTHORS   Nieh,Y.C., Chou,Y.T., Chou,Y.T., Wang,C.Y., Lin,S.X., Ciou,S.C.,
            Yuh,C.H. and Wang,H.D.
  TITLE     Suppression of Ribose-5-Phosphate Isomerase a Induces ROS to
            Activate Autophagy, Apoptosis, and Cellular Senescence in Lung
            Cancer
  JOURNAL   Int J Mol Sci 23 (14), 7883 (2022)
   PUBMED   35887232
  REMARK    GeneRIF: Suppression of Ribose-5-Phosphate Isomerase a Induces ROS
            to Activate Autophagy, Apoptosis, and Cellular Senescence in Lung
            Cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1813)
  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 1813)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1813)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1813)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1813)
  AUTHORS   Wamelink,M.M., Struys,E.A. and Jakobs,C.
  TITLE     The biochemistry, metabolism and inherited defects of the pentose
            phosphate pathway: a review
  JOURNAL   J Inherit Metab Dis 31 (6), 703-717 (2008)
   PUBMED   18987987
  REMARK    Review article
REFERENCE   7  (bases 1 to 1813)
  AUTHORS   Huck,J.H., Verhoeven,N.M., Struys,E.A., Salomons,G.S., Jakobs,C.
            and van der Knaap,M.S.
  TITLE     Ribose-5-phosphate isomerase deficiency: new inborn error in the
            pentose phosphate pathway associated with a slowly progressive
            leukoencephalopathy
  JOURNAL   Am J Hum Genet 74 (4), 745-751 (2004)
   PUBMED   14988808
  REMARK    GeneRIF: RPI is the second known inborn error in the reversible
            phase of the pentose-phosphate-pathway, confirming that defects in
            pentose and polyol metabolism constitute a new area of inborn
            metabolic disorders
REFERENCE   8  (bases 1 to 1813)
  AUTHORS   Apel,T.W., Scherer,A., Adachi,T., Auch,D., Ayane,M. and Reth,M.
  TITLE     The ribose 5-phosphate isomerase-encoding gene is located
            immediately downstream from that encoding murine immunoglobulin
            kappa
  JOURNAL   Gene 156 (2), 191-197 (1995)
   PUBMED   7758956
REFERENCE   9  (bases 1 to 1813)
  AUTHORS   Bublitz,C. and Steavenson,S.
  TITLE     The pentose phosphate pathway in the endoplasmic reticulum
  JOURNAL   J Biol Chem 263 (26), 12849-12853 (1988)
   PUBMED   2843500
REFERENCE   10 (bases 1 to 1813)
  AUTHORS   Spencer,N. and Hopkinson,D.A.
  TITLE     Biochemical genetics of the pentose phosphate cycle: human ribose
            5-phosphate isomerase (RPI) and ribulose 5-phosphate 3-epimerase
            (RPE)
  JOURNAL   Ann Hum Genet 43 (4), 335-342 (1980)
   PUBMED   7396409
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB989690.1, BC015529.1 and
            BF063086.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_144563.2.
            
            Summary: The protein encoded by this gene is an enzyme, which
            catalyzes the reversible conversion between ribose-5-phosphate and
            ribulose-5-phosphate in the pentose-phosphate pathway. This gene is
            highly conserved in most organisms. The enzyme plays an essential
            role in the carbohydrate metabolism. Mutations in this gene cause
            ribose 5-phosphate isomerase deficiency. A pseudogene is found on
            chromosome 18. [provided by RefSeq, Mar 2010].
            
            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 :: SRR3476690.218873.1,
                                           SRR3476690.319943.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000283646.5/ ENSP00000283646.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                CB989690.1         50-62
            14-1492             BC015529.1         1-1479
            1493-1813           BF063086.1         7-327               c
FEATURES             Location/Qualifiers
     source          1..1813
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..1813
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /note="ribose 5-phosphate isomerase A"
                     /db_xref="GeneID:22934"
                     /db_xref="HGNC:HGNC:10297"
                     /db_xref="MIM:180430"
     exon            1..311
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..962
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /EC_number="5.3.1.6"
                     /note="ribose 5-phosphate epimerase; phosphoriboisomerase"
                     /codon_start=1
                     /product="ribose-5-phosphate isomerase"
                     /protein_id="NP_653164.2"
                     /db_xref="CCDS:CCDS2004.2"
                     /db_xref="GeneID:22934"
                     /db_xref="HGNC:HGNC:10297"
                     /db_xref="MIM:180430"
                     /translation="MQRPGPFSTLYGRVLAPLPGRAGGAASGGGGNSWDLPGSHVRLP
                     GRAQSGTRGGAGNTSTSCGDSNSICPAPSTMSKAEEAKKLAGRAAVENHVRNNQVLGI
                     GSGSTIVHAVQRIAERVKQENLNLVCIPTSFQARQLILQYGLTLSDLDRHPEIDLAID
                     GADEVDADLNLIKGGGGCLTQEKIVAGYASRFIVIADFRKDSKNLGDQWHKGIPIEVI
                     PMAYVPVSRAVSQKFGGVVELRMAVNKAGPVVTDNGNFILDWKFDRVHKWSEVNTAIK
                     MIPGVVDTGLFINMAERVYFGMQDGSVNMREKPFC"
     exon            312..372
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /inference="alignment:Splign:2.1.0"
     exon            373..428
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /inference="alignment:Splign:2.1.0"
     exon            429..488
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /inference="alignment:Splign:2.1.0"
     exon            489..553
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /inference="alignment:Splign:2.1.0"
     exon            554..622
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /inference="alignment:Splign:2.1.0"
     exon            623..764
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /inference="alignment:Splign:2.1.0"
     exon            765..864
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /inference="alignment:Splign:2.1.0"
     exon            865..1813
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1794..1799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /note="hexamer: AATAAA"
     polyA_site      1813
                     /gene="RPIA"
                     /gene_synonym="RPI; RPIAD"
                     /note="major polyA site"
ORIGIN      
        1 agcggaggcc ggagcgaggc gtcgggatgc agcgccccgg gcccttcagc accctctacg
       61 ggcgggtctt ggccccgctg cccgggaggg ccgggggcgc ggcctccggc ggaggaggga
      121 acagctggga cctcccgggt tcccacgtgc ggctgccggg gcgtgcacag tctgggaccc
      181 gtggcggtgc tggcaacaca agcaccagct gcggggactc caacagcatc tgcccggccc
      241 cctccacgat gtccaaggcc gaggaggcca agaagctggc gggccgcgcg gctgtggaga
      301 accacgtgag gaataaccaa gtgctgggaa ttggaagtgg ttctacaatt gtccatgctg
      361 tgcagcgaat agctgaaagg gtgaagcaag agaatctgaa cctcgtctgt attcccactt
      421 ccttccaggc ccgccagctc atcctgcagt atggcttgac cctcagtgat ctggatcgac
      481 acccagagat cgaccttgcc atcgatggtg ctgatgaagt agatgctgat ctcaatctca
      541 tcaagggtgg cggaggctgc ctgacccagg agaagattgt ggctggctat gctagtcgct
      601 tcatcgtgat cgctgatttc aggaaagatt cgaagaatct cggggatcag tggcacaagg
      661 gaatccccat cgaggtcatc ccaatggcct atgtcccagt gagccgagct gtgagccaga
      721 agtttggggg cgtggttgaa cttcgaatgg ctgtcaacaa ggctggtcct gtggtgacag
      781 ataatgggaa ttttatcttg gactggaagt ttgaccgggt acacaaatgg agtgaagtga
      841 atacagctat caaaatgatc ccaggtgtgg tggacacagg cctattcatc aacatggctg
      901 agagagtcta ctttgggatg caggatggct cagtgaacat gagggagaag cctttctgtt
      961 gaccctgcaa ggagcagagt gtgttcacct tgagtctcca gcccacagcc aaggtggacg
     1021 tacctctcca ggagcctttg ccttaatgta tctctgcctg gacaacttgt ggtggggggt
     1081 ggggggaaga gtgggagggg gagttaaatc cagtcttatg aagtattgtt attaaatgtc
     1141 tttttaaaaa gagaaatata aacatatatt tttactatta aaatattcag ttttttaaat
     1201 gaagtagaac ttgagttcat gttttatatg aaatatttac caaaaaaaaa aaatgaggta
     1261 aactgtattt aaaacctttg acttgagtct gctggtaaag cttctgaata ttgagtttgc
     1321 tgagaaataa aaatcaaaac ttctttaagc tggtaaagtg aggggcccac cagcagtgat
     1381 ctcctgatgc cttactggaa actttgttta cttgtctgct accctctgat ttgtttttag
     1441 ttagttttta ttgtgagcac acatagtacc tagttacatc ttaagatcag gtttataaaa
     1501 ctgtggagtg gagcggtatg gtatggaatg acttggaatg taagctgtca gggagaaaat
     1561 gttgttacac ttttgctaag atctgggggt ttcttcatat tcctgctgtt ggaagcagtt
     1621 gaccagaaat gcttgccagt actgccaaag cactgctgtg aaatgtgaag tactttgttt
     1681 ttttattttt aatgattttc tttttgttat taatattttt ctctgttcct ttgttattac
     1741 ttgcatggtt tggcgtcaga agtccttacc tctttatatt gtttgcaggt ttaaataaaa
     1801 cagtgtggtg cca
//
