LOCUS       NM_001282280            1869 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens pyrroline-5-carboxylate reductase 1 (PYCR1),
            transcript variant 4, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001282280 XM_005256380
VERSION     NM_001282280.2
KEYWORDS    RefSeq.
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 1869)
  AUTHORS   Wang,Z., Jia,X., Sun,W., Wang,M., Yuan,Q., Xu,T., Liu,Y., Chen,Z.,
            Huang,M., Ji,N. and Zhang,M.
  TITLE     A micropeptide TREMP encoded by lincR-PPP2R5C promotes Th2 cell
            differentiation by interacting with PYCR1 in allergic airway
            inflammation
  JOURNAL   Allergol Int 73 (4), 587-602 (2024)
   PUBMED   39025723
  REMARK    GeneRIF: A micropeptide TREMP encoded by lincR-PPP2R5C promotes Th2
            cell differentiation by interacting with PYCR1 in allergic airway
            inflammation.
REFERENCE   2  (bases 1 to 1869)
  AUTHORS   Park,J.M., Su,Y.H., Fan,C.S., Chen,H.H., Qiu,Y.K., Chen,L.L.,
            Chen,H.A., Ramasamy,T.S., Chang,J.S., Huang,S.Y., Chang,W.W.,
            Lee,A.Y., Huang,T.S., Kuo,C.C. and Chiu,C.F.
  TITLE     Crosstalk between FTH1 and PYCR1 dysregulates proline metabolism
            and mediates cell growth in KRAS-mutant pancreatic cancer cells
  JOURNAL   Exp Mol Med 56 (9), 2065-2081 (2024)
   PUBMED   39294443
  REMARK    GeneRIF: Crosstalk between FTH1 and PYCR1 dysregulates proline
            metabolism and mediates cell growth in KRAS-mutant pancreatic
            cancer cells.
REFERENCE   3  (bases 1 to 1869)
  AUTHORS   Harb,O.A., Elfeky,M.A., Alabiad,M.A., Hemeda,R., Allam,A.S., El
            Hawary,A.T., Elbaz,M., Sharaf,A.L., Gertallah,L.M., Abdelaziz,A.M.,
            Shalaby,A.M., Alorini,M., Yahia,A.I.O. and Negm,M.
  TITLE     PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A
            Clinicopathologic, Prognostic, and Immunohistochemical Study
  JOURNAL   Appl Immunohistochem Mol Morphol 32 (2), 102-110 (2024)
   PUBMED   37982568
  REMARK    GeneRIF: PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma:
            A Clinicopathologic, Prognostic, and Immunohistochemical Study.
REFERENCE   4  (bases 1 to 1869)
  AUTHORS   Cui,B., He,B., Huang,Y., Wang,C., Luo,H., Lu,J., Su,K., Zhang,X.,
            Luo,Y., Zhao,Z., Yang,Y., Zhang,Y., An,F., Wang,H., Lam,E.W.,
            Kelley,K.W., Wang,L., Liu,Q. and Peng,F.
  TITLE     Pyrroline-5-carboxylate reductase 1 reprograms proline metabolism
            to drive breast cancer stemness under psychological stress
  JOURNAL   Cell Death Dis 14 (10), 682 (2023)
   PUBMED   37845207
  REMARK    GeneRIF: Pyrroline-5-carboxylate reductase 1 reprograms proline
            metabolism to drive breast cancer stemness under psychological
            stress.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1869)
  AUTHORS   Zheng,K., Sha,N., Hou,G., Leng,Z., Zhao,Q., Zhang,L., He,L., Xu,M.,
            Jiang,Y. and Chen,T.
  TITLE     IGF1R-phosphorylated PYCR1 facilitates ELK4 transcriptional
            activity and sustains tumor growth under hypoxia
  JOURNAL   Nat Commun 14 (1), 6117 (2023)
   PUBMED   37777542
  REMARK    GeneRIF: IGF1R-phosphorylated PYCR1 facilitates ELK4
            transcriptional activity and sustains tumor growth under hypoxia.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1869)
  AUTHORS   Dougherty,K.M., Brandriss,M.C. and Valle,D.
  TITLE     Cloning human pyrroline-5-carboxylate reductase cDNA by
            complementation in Saccharomyces cerevisiae
  JOURNAL   J Biol Chem 267 (2), 871-875 (1992)
   PUBMED   1730675
REFERENCE   7  (bases 1 to 1869)
  AUTHORS   Merrill,M.J., Yeh,G.C. and Phang,J.M.
  TITLE     Purified human erythrocyte pyrroline-5-carboxylate reductase.
            Preferential oxidation of NADPH
  JOURNAL   J Biol Chem 264 (16), 9352-9358 (1989)
   PUBMED   2722838
REFERENCE   8  (bases 1 to 1869)
  AUTHORS   Yeh,G.C., Roth,E.F. Jr., Phang,J.M., Harris,S.C., Nagel,R.L. and
            Rinaldi,A.
  TITLE     The effect of pyrroline-5-carboxylic acid on nucleotide metabolism
            in erythrocytes from normal and glucose-6-phosphate
            dehydrogenase-deficient subjects
  JOURNAL   J Biol Chem 259 (9), 5454-5458 (1984)
   PUBMED   6201483
REFERENCE   9  (bases 1 to 1869)
  AUTHORS   Herzfeld,A. and Greengard,O.
  TITLE     Enzyme activities in human fetal and neoplastic tissues
  JOURNAL   Cancer 46 (9), 2047-2054 (1980)
   PUBMED   6253048
REFERENCE   10 (bases 1 to 1869)
  AUTHORS   Herzfeld,A., Legg,M.A. and Greengard,O.
  TITLE     Human colon tumors: enzymic and histological characteristics
  JOURNAL   Cancer 42 (3), 1280-1283 (1978)
   PUBMED   212173
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC145207.2.
            
            On Aug 13, 2020 this sequence version replaced NM_001282280.1.
            
            Summary: This gene encodes an enzyme that catalyzes the
            NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline.
            This enzyme may also play a physiologic role in the generation of
            NADP(+) in some cell types. The protein forms a homopolymer and
            localizes to the mitochondrion. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (4) contains an alternate exon in
            the 5' UTR, lacks a portion of the 5' coding region, and initiates
            translation at an alternate start codon, compared to variant 5. The
            encoded isoform (1) has a distinct N-terminus and is shorter than
            isoform 5. Variants 1 and 4 encode the same protein.
            
            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 :: BC071842.1, SRR18074968.1754718.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                AC145207.2         49680-49718
            40-153              AC145207.2         50119-50232
            154-224             AC145207.2         50787-50857
            225-404             AC145207.2         51464-51643
            405-626             AC145207.2         51833-52054
            627-719             AC145207.2         52235-52327
            720-883             AC145207.2         52491-52654
            884-1869            AC145207.2         53604-54589
FEATURES             Location/Qualifiers
     source          1..1869
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..1869
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /note="pyrroline-5-carboxylate reductase 1"
                     /db_xref="GeneID:5831"
                     /db_xref="HGNC:HGNC:9721"
                     /db_xref="MIM:179035"
     exon            1..39
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     exon            40..153
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..1046
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /EC_number="1.5.1.2"
                     /note="isoform 1 is encoded by transcript variant 4;
                     pyrroline-5-carboxylate reductase 1, mitochondrial;
                     proliferation-inducing protein 45; P5C reductase 1"
                     /codon_start=1
                     /product="pyrroline-5-carboxylate reductase 1,
                     mitochondrial isoform 1"
                     /protein_id="NP_001269209.1"
                     /db_xref="CCDS:CCDS11795.1"
                     /db_xref="GeneID:5831"
                     /db_xref="HGNC:HGNC:9721"
                     /db_xref="MIM:179035"
                     /translation="MSVGFIGAGQLAFALAKGFTAAGVLAAHKIMASSPDMDLATVSA
                     LRKMGVKLTPHNKETVQHSDVLFLAVKPHIIPFILDEIGADIEDRHIVVSCAAGVTIS
                     SIEKKLSAFRPAPRVIRCMTNTPVVVREGATVYATGTHAQVEDGRLMEQLLSSVGFCT
                     EVEEDLIDAVTGLSGSGPAYAFTALDALADGGVKMGLPRRLAVRLGAQALLGAAKMLL
                     HSEQHPGQLKDNVSSPGGATIHALHVLESGGFRSLLINAVEASCIRTRELQSMADQEQ
                     VSPAAIKKTILDKVKLDSPAGTALSPSGHTKLLPRSLAPAGKD"
     exon            154..224
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     exon            225..404
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     exon            405..626
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     exon            627..719
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     exon            720..883
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     exon            884..1869
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1847..1852
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /note="hexamer: ATTAAA"
     polyA_site      1869
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /note="major polyA site"
ORIGIN      
        1 ctgggtgcgg gtgccgcgtg gcggccgcag cgctgaggga gccggtgcca tctgtggggg
       61 ctttgggcca ggggtctccg gacagcatga gcgtgggctt catcggcgct ggccagctgg
      121 cttttgccct ggccaagggc ttcacagcag caggcgtctt ggctgcccac aagataatgg
      181 ctagctcccc agacatggac ctggccacag tttctgctct caggaagatg ggggtgaagt
      241 tgacacccca caacaaggag acggtgcagc acagtgatgt gctcttcctg gctgtgaagc
      301 cacacatcat ccccttcatc ctggatgaaa taggcgccga cattgaggac agacacattg
      361 tggtgtcctg cgcggccggc gtcaccatca gctccattga gaagaagctg tcagcgtttc
      421 ggccagcccc cagggtcatc cgctgcatga ccaacactcc agtcgtggtg cgggaggggg
      481 ccaccgtgta tgccacaggc acgcacgccc aggtggagga cgggaggctc atggagcagc
      541 tgctgagcag cgtgggcttc tgcacggagg tggaagagga cctgattgat gccgtcacgg
      601 ggctcagtgg cagcggcccc gcctacgcat tcacagccct ggatgccctg gctgatgggg
      661 gtgtgaagat gggacttcca aggcgcctgg cagtccgcct cggggcccag gccctcctgg
      721 gggctgccaa gatgctgctg cactcagaac agcacccagg ccagctcaag gacaacgtca
      781 gctctcctgg tggggccacc atccatgcct tgcatgtgct ggagagtggg ggcttccgct
      841 ccctgctcat caacgctgtg gaggcctcct gcatccgcac acgggagctg cagtccatgg
      901 ctgaccagga gcaggtgtca ccagccgcca tcaagaagac catcctggac aaggtgaagc
      961 tggactcccc tgcagggacc gctctgtcac cttctggcca caccaagctg ctcccccgca
     1021 gcctggcccc agcgggcaag gattgacacg tcctgcctga ccaccatcct gccaccacct
     1081 tctcttctct tgtcactagg gggactaggg ggtccccaaa gtggcccact ttctgtggct
     1141 ctgatcagcg caggggccag ccagggacat agccagggag gggccacatc acttcccact
     1201 ggaaatctct gtggtctgca agtgcttccc agcccagaac aggggtggat tccccaacct
     1261 caacctcctt tcttctctgc tcccaaacca tgtcaggacc accttcctct agagctcggg
     1321 agcccggagg gtcttcaccc actcctactc cagtatcagc tggcacgggc tccttcctga
     1381 gagcaaaggt caaggacccc ctctgtgaag gctcagcaga ggtgggatcc cacgccccct
     1441 cccggcccct ccctgccctc cattcaggga gaaacctctc cttcccgtgt gagaagggcc
     1501 agagggtcca ggcatcccaa gtccagcgtg aagggccaca gcccctcttg gctgccaagc
     1561 acgcagatcc catggacatt tggggaaagg gctccttggg ctgctggtga acttctgtgg
     1621 ccaccacctc ctgctcctga cctccctggg agggtgctat cagttctgtc ctggcccttt
     1681 cagttttata agttggtttc cagcccccag tgtcctgact tctgtctgcc acatgaggag
     1741 ggaggccctg cctgtgtggg agggtggtta ctgtgggtgg aatagtggag gccttcaact
     1801 gattagacaa ggcccgccca catcttggag ggcatctgcc ttactgatta aaatgtcaat
     1861 gtaatctaa
//
