LOCUS       NM_013328               1680 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens pyrroline-5-carboxylate reductase 2 (PYCR2),
            transcript variant 1, mRNA.
ACCESSION   NM_013328
VERSION     NM_013328.4
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 1680)
  AUTHORS   Wang,S., Yi,W., Xu,Z. and Shi,M.
  TITLE     PYCR2 promotes growth and aerobic glycolysis in human liver cancer
            by regulating the AKT signaling pathway
  JOURNAL   Biochem Biophys Res Commun 680, 15-24 (2023)
   PUBMED   37708598
  REMARK    GeneRIF: PYCR2 promotes growth and aerobic glycolysis in human
            liver cancer by regulating the AKT signaling pathway.
REFERENCE   2  (bases 1 to 1680)
  AUTHORS   Lama Tamang,R., Kumar,B., Patel,S.M., Thapa,I., Ahmad,A., Kumar,V.,
            Ahmad,R., Becker,D.F., Bastola,D.K., Dhawan,P. and Singh,A.B.
  TITLE     Pyrroline-5-Carboxylate Reductase-2 Promotes Colorectal
            Carcinogenesis by Modulating Microtubule-Associated
            Serine/Threonine Kinase-like/Wnt/beta-Catenin Signaling
  JOURNAL   Cells 12 (14), 1883 (2023)
   PUBMED   37508547
  REMARK    GeneRIF: Pyrroline-5-Carboxylate Reductase-2 Promotes Colorectal
            Carcinogenesis by Modulating Microtubule-Associated
            Serine/Threonine Kinase-like/Wnt/beta-Catenin Signaling.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1680)
  AUTHORS   Sager,G., Turkyilmaz,A., Gunbey,H.P., Tas,I., Ozhelvaci,F. and
            Akin,Y.
  TITLE     Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes
            hereditary spastic paraplaegia in late childhood
  JOURNAL   Eur J Paediatr Neurol 44, 51-56 (2023)
   PUBMED   37141741
  REMARK    GeneRIF: Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency
            causes hereditary spastic paraplaegia in late childhood.
REFERENCE   4  (bases 1 to 1680)
  AUTHORS   Geng,Y., Chen,P., Zhang,L., Li,X., Song,C., Wei,X. and Gong,H.
  TITLE     LncRNA MALAT1 regulates growth of carcinoma of the lung through
            modulating miR-338-3p/PYCR2 axis
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 69 (4), 133-140 (2023)
   PUBMED   37329534
  REMARK    GeneRIF: LncRNA MALAT1 regulates growth of carcinoma of the lung
            through modulating miR-338-3p/PYCR2 axis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1680)
  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 1680)
  AUTHORS   Ou,R., Zhang,X., Cai,J., Shao,X., Lv,M., Qiu,W., Xuan,X., Liu,J.,
            Li,Z. and Xu,Y.
  TITLE     Downregulation of pyrroline-5-carboxylate reductase-2 induces the
            autophagy of melanoma cells via AMPK/mTOR pathway
  JOURNAL   Tumour Biol 37 (5), 6485-6491 (2016)
   PUBMED   26634742
  REMARK    GeneRIF: It was found that silence of PYCR2 resulted in the
            decrease of proliferative ability and activation of
            AMPK/mTOR-induced autophagy of A375 cells. PYCR2 silencing also
            activated AMPK/mTOR pathway in another melanoma cell line, CHL-1.
REFERENCE   7  (bases 1 to 1680)
  AUTHORS   Kuo,M.L., Lee,M.B., Tang,M., den Besten,W., Hu,S., Sweredoski,M.J.,
            Hess,S., Chou,C.M., Changou,C.A., Su,M., Jia,W., Su,L. and Yen,Y.
  TITLE     PYCR1 and PYCR2 Interact and Collaborate with RRM2B to Protect
            Cells from Overt Oxidative Stress
  JOURNAL   Sci Rep 6, 18846 (2016)
   PUBMED   26733354
  REMARK    GeneRIF: Silencing of both PYCR1 and PYCR2 completely abolished
            anti-oxidation activity of RRM2B, demonstrating a functional
            collaboration of these metabolic enzymes in response to oxidative
            stress.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1680)
  AUTHORS   Nakayama,T., Al-Maawali,A., El-Quessny,M., Rajab,A., Khalil,S.,
            Stoler,J.M., Tan,W.H., Nasir,R., Schmitz-Abe,K., Hill,R.S.,
            Partlow,J.N., Al-Saffar,M., Servattalab,S., LaCoursiere,C.M.,
            Tambunan,D.E., Coulter,M.E., Elhosary,P.C., Gorski,G.,
            Barkovich,A.J., Markianos,K., Poduri,A. and Mochida,G.H.
  TITLE     Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2,
            Cause Microcephaly and Hypomyelination
  JOURNAL   Am J Hum Genet 96 (5), 709-719 (2015)
   PUBMED   25865492
  REMARK    GeneRIF: Hypomyelination and the absence of lax caused by
            previously reported mutations in the gene encoding PYCR2's isozyme,
            PYCR1, suggesting a unique and indispensable role for PYCR2 in the
            human CNS during development.
REFERENCE   9  (bases 1 to 1680)
  AUTHORS   Togashi,Y., Arao,T., Kato,H., Matsumoto,K., Terashima,M.,
            Hayashi,H., de Velasco,M.A., Fujita,Y., Kimura,H., Yasuda,T.,
            Shiozaki,H. and Nishio,K.
  TITLE     Frequent amplification of ORAOV1 gene in esophageal squamous cell
            cancer promotes an aggressive phenotype via proline metabolism and
            ROS production
  JOURNAL   Oncotarget 5 (10), 2962-2973 (2014)
   PUBMED   24930674
REFERENCE   10 (bases 1 to 1680)
  AUTHORS   De Ingeniis,J., Ratnikov,B., Richardson,A.D., Scott,D.A.,
            Aza-Blanc,P., De,S.K., Kazanov,M., Pellecchia,M., Ronai,Z.,
            Osterman,A.L. and Smith,J.W.
  TITLE     Functional specialization in proline biosynthesis of melanoma
  JOURNAL   PLoS One 7 (9), e45190 (2012)
   PUBMED   23024808
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020553.1 and AW166558.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_013328.3.
            
            Summary: This gene belongs to the pyrroline-5-carboxylate reductase
            family. The encoded mitochondrial protein catalyzes the conversion
            of pyrroline-5-carboxylate to proline, which is the last step in
            proline biosynthesis. Alternatively spliced transcript variants
            have been described for this gene. [provided by RefSeq, Nov 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR3476690.273299.1,
                                           SRR3476690.534714.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343818.11/ ENSP00000342502.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1678              BC020553.1         16-1693
            1679-1680           AW166558.1         2-3                 c
FEATURES             Location/Qualifiers
     source          1..1680
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.12"
     gene            1..1680
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /note="pyrroline-5-carboxylate reductase 2"
                     /db_xref="GeneID:29920"
                     /db_xref="HGNC:HGNC:30262"
                     /db_xref="MIM:616406"
     exon            1..207
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..1103
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /EC_number="1.5.1.2"
                     /note="isoform 1 is encoded by transcript variant 1; P5C
                     reductase 2; pyrroline-5-carboxylate reductase family
                     member 2"
                     /codon_start=1
                     /product="pyrroline-5-carboxylate reductase 2 isoform 1"
                     /protein_id="NP_037460.2"
                     /db_xref="CCDS:CCDS31043.1"
                     /db_xref="GeneID:29920"
                     /db_xref="HGNC:HGNC:30262"
                     /db_xref="MIM:616406"
                     /translation="MSVGFIGAGQLAYALARGFTAAGILSAHKIIASSPEMNLPTVSA
                     LRKMGVNLTRSNKETVKHSDVLFLAVKPHIIPFILDEIGADVQARHIVVSCAAGVTIS
                     SVEKKLMAFQPAPKVIRCMTNTPVVVQEGATVYATGTHALVEDGQLLEQLMSSVGFCT
                     EVEEDLIDAVTGLSGSGPAYAFMALDALADGGVKMGLPRRLAIQLGAQALLGAAKMLL
                     DSEQHPCQLKDNVCSPGGATIHALHFLESGGFRSLLINAVEASCIRTRELQSMADQEK
                     ISPAALKKTLLDRVKLESPTVSTLTPSSPGKLLTRSLALGGKKD"
     exon            208..278
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /inference="alignment:Splign:2.1.0"
     exon            279..458
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /inference="alignment:Splign:2.1.0"
     exon            459..680
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /inference="alignment:Splign:2.1.0"
     exon            681..773
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /inference="alignment:Splign:2.1.0"
     exon            774..937
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1680
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1658..1663
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /note="hexamer: AATAAA"
     polyA_site      1680
                     /gene="PYCR2"
                     /gene_synonym="HLD10; P5CR2"
                     /note="major polyA site"
ORIGIN      
        1 atcccagaag ctgctgttag ctcgccggtc ctcggcacgc cgcccgttcg cccctgcgct
       61 gtccgccctt cccctagcgt tacttccggt ccctcgctga gggggttcgt gcggctccca
      121 ggaggcgtga accgcggacc atgagcgtgg gcttcatcgg ggccggccag ctggcctatg
      181 ctctggcgcg gggcttcacg gccgcaggca tcctgtcggc tcacaagata atagccagct
      241 ccccagaaat gaacctgccc acggtgtccg cgctcaggaa gatgggtgtg aacctgacac
      301 gcagcaacaa ggagacggtg aagcacagcg acgtcctgtt tctggctgtg aagccacata
      361 tcatcccctt catcctggat gagattgggg ccgacgtgca agccagacac atcgtggtct
      421 cctgtgcggc tggtgtcacc atcagctctg tggagaagaa gctgatggca ttccagccag
      481 cccccaaagt gattcgctgc atgaccaaca cacctgtggt agtgcaggaa ggcgctacag
      541 tgtacgccac gggcacccat gccctggtgg aggatgggca gctcctggag cagctcatga
      601 gcagcgtggg cttctgcact gaggtggaag aggacctcat cgatgccgtc acggggctca
      661 gtggcagcgg gcctgcctat gcattcatgg ctctggacgc attggctgat ggtggggtga
      721 agatgggttt gccacggcgc ctggcaatcc aactcggggc ccaggctttg ctgggagctg
      781 ccaagatgct gctggactcg gagcagcatc catgccagct taaggacaat gtctgctccc
      841 ctgggggagc caccatccac gccctgcact ttctagagag tgggggcttc cgctctctgc
      901 tcatcaatgc agttgaggcc tcctgtatcc gaacacgaga gctacagtcc atggccgacc
      961 aagaaaagat ctccccagct gcccttaaga agaccctctt agacagagtg aagctggaat
     1021 cccccacagt ctccacactg accccctcca gcccagggaa gctcctcaca agaagcctgg
     1081 ccctgggagg caagaaggac taaggcagca tctgtcccct ctgtgattca gagcccttag
     1141 ttgagagccc ctgccgcccc tgccaccccc ctgccccgct cccaccattg cccctcctca
     1201 gctgtgcaag gagaaagcat gcttaggaag ttttcaggtc cttgtgataa aacctcctta
     1261 aatctgttca gaccaagcaa tgcgagcttc ctctcctgtc ccatgttgga agttgctctg
     1321 aaggggtggt agatgctgga agccagacac aaccctgcgt acgctgctca gttggtggag
     1381 actggggctg ggactggagt cagcccagct gggaggaggg gctggggagg atctgcagct
     1441 gaagcccgag gcagggttgg tgtgatgcca aggcaaagtg gtgaggagaa aacaggaaac
     1501 gggctttctc tgaattggta aatgggaaag aagtgagcaa cttaagattg tcacaattaa
     1561 tcacaagtgt acaggattag actgggttta tatttaactc ttgcttcata ggtgtaccat
     1621 ttaaagagtg ttatttaatg ctaagtttaa ctgctttaat aaagtttatt tttaaatatc
//
