LOCUS       NM_006907               2269 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens pyrroline-5-carboxylate reductase 1 (PYCR1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_006907
VERSION     NM_006907.4
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 2269)
  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 2269)
  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 2269)
  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 2269)
  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 2269)
  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 2269)
  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 2269)
  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 2269)
  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 2269)
  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 2269)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_006907.3.
            
            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 (1) differs 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 :: BC001504.2, M77836.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000329875.13/ ENSP00000328858.8
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-553               AC145207.2         49680-50232
            554-624             AC145207.2         50787-50857
            625-804             AC145207.2         51464-51643
            805-1026            AC145207.2         51833-52054
            1027-1119           AC145207.2         52235-52327
            1120-1283           AC145207.2         52491-52654
            1284-2269           AC145207.2         53604-54589
FEATURES             Location/Qualifiers
     source          1..2269
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2269
                     /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..553
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     CDS             487..1446
                     /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 1;
                     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_008838.2"
                     /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            554..624
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     exon            625..804
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     exon            805..1026
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1119
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1283
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..2269
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2247..2252
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /note="hexamer: ATTAAA"
     polyA_site      2269
                     /gene="PYCR1"
                     /gene_synonym="ARCL2B; ARCL3B; P5C; P5CR; PIG45; PP222;
                     PRO3; PYCR"
                     /note="major polyA site"
ORIGIN      
        1 ctgggtgcgg gtgccgcgtg gcggccgcag cgctgagggg tgggtacgac ccgcgcacgg
       61 tagctgggtt ggggtcgggc tccgggaatg gtgggcggcg gtcgccgggt ggggcgcgac
      121 ggtagcccag ttctgggcgg ggtgggaacc cagacggggg acccctaggc gccgggccct
      181 ccctctcccc gtacttttcc cccttcccag tcatttcttc tgcggaacct ccacccctcc
      241 agtgggtgcg ggaccctagg cagcaggcca ggcaccgccg ctctgactgg gggccccgaa
      301 gcagttaacg ggccggacag caaagtggaa agttagacca gctgggacca ggggaggtgg
      361 gcacccggct gcgggaggag cggccaggct ggcactgccc ccctaacttg ctctcgatcc
      421 tgccggtctc gtcccgcaga gccggtgcca tctgtggggg ctttgggcca ggggtctccg
      481 gacagcatga gcgtgggctt catcggcgct ggccagctgg cttttgccct ggccaagggc
      541 ttcacagcag caggcgtctt ggctgcccac aagataatgg ctagctcccc agacatggac
      601 ctggccacag tttctgctct caggaagatg ggggtgaagt tgacacccca caacaaggag
      661 acggtgcagc acagtgatgt gctcttcctg gctgtgaagc cacacatcat ccccttcatc
      721 ctggatgaaa taggcgccga cattgaggac agacacattg tggtgtcctg cgcggccggc
      781 gtcaccatca gctccattga gaagaagctg tcagcgtttc ggccagcccc cagggtcatc
      841 cgctgcatga ccaacactcc agtcgtggtg cgggaggggg ccaccgtgta tgccacaggc
      901 acgcacgccc aggtggagga cgggaggctc atggagcagc tgctgagcag cgtgggcttc
      961 tgcacggagg tggaagagga cctgattgat gccgtcacgg ggctcagtgg cagcggcccc
     1021 gcctacgcat tcacagccct ggatgccctg gctgatgggg gtgtgaagat gggacttcca
     1081 aggcgcctgg cagtccgcct cggggcccag gccctcctgg gggctgccaa gatgctgctg
     1141 cactcagaac agcacccagg ccagctcaag gacaacgtca gctctcctgg tggggccacc
     1201 atccatgcct tgcatgtgct ggagagtggg ggcttccgct ccctgctcat caacgctgtg
     1261 gaggcctcct gcatccgcac acgggagctg cagtccatgg ctgaccagga gcaggtgtca
     1321 ccagccgcca tcaagaagac catcctggac aaggtgaagc tggactcccc tgcagggacc
     1381 gctctgtcac cttctggcca caccaagctg ctcccccgca gcctggcccc agcgggcaag
     1441 gattgacacg tcctgcctga ccaccatcct gccaccacct tctcttctct tgtcactagg
     1501 gggactaggg ggtccccaaa gtggcccact ttctgtggct ctgatcagcg caggggccag
     1561 ccagggacat agccagggag gggccacatc acttcccact ggaaatctct gtggtctgca
     1621 agtgcttccc agcccagaac aggggtggat tccccaacct caacctcctt tcttctctgc
     1681 tcccaaacca tgtcaggacc accttcctct agagctcggg agcccggagg gtcttcaccc
     1741 actcctactc cagtatcagc tggcacgggc tccttcctga gagcaaaggt caaggacccc
     1801 ctctgtgaag gctcagcaga ggtgggatcc cacgccccct cccggcccct ccctgccctc
     1861 cattcaggga gaaacctctc cttcccgtgt gagaagggcc agagggtcca ggcatcccaa
     1921 gtccagcgtg aagggccaca gcccctcttg gctgccaagc acgcagatcc catggacatt
     1981 tggggaaagg gctccttggg ctgctggtga acttctgtgg ccaccacctc ctgctcctga
     2041 cctccctggg agggtgctat cagttctgtc ctggcccttt cagttttata agttggtttc
     2101 cagcccccag tgtcctgact tctgtctgcc acatgaggag ggaggccctg cctgtgtggg
     2161 agggtggtta ctgtgggtgg aatagtggag gccttcaact gattagacaa ggcccgccca
     2221 catcttggag ggcatctgcc ttactgatta aaatgtcaat gtaatctaa
//
