LOCUS       NM_002591               4320 bp    mRNA    linear   PRI 24-JUN-2024
DEFINITION  Homo sapiens phosphoenolpyruvate carboxykinase 1 (PCK1), mRNA.
ACCESSION   NM_002591
VERSION     NM_002591.4
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 4320)
  AUTHORS   Xue,S., Cai,Y., Liu,J., Ji,K., Yi,P., Long,H., Zhang,X., Li,P. and
            Song,Y.
  TITLE     Dysregulation of phosphoenolpyruvate carboxykinase in cancers: A
            comprehensive analysis
  JOURNAL   Cell Signal 120, 111198 (2024)
   PUBMED   38697449
  REMARK    GeneRIF: Dysregulation of phosphoenolpyruvate carboxykinase in
            cancers: A comprehensive analysis.
REFERENCE   2  (bases 1 to 4320)
  AUTHORS   Zhao,P.W., Cui,J.X. and Wang,X.M.
  TITLE     Upregulation of p300 in paclitaxel-resistant TNBC: implications for
            cell proliferation via the PCK1/AMPK axis
  JOURNAL   Pharmacogenomics J 24 (2), 5 (2024)
   PUBMED   38378770
  REMARK    GeneRIF: Upregulation of p300 in paclitaxel-resistant TNBC:
            implications for cell proliferation via the PCK1/AMPK axis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4320)
  AUTHORS   Al Busaidi,M., Mohamed,F.E., Al-Ajmi,E., Al Hashmi,N.,
            Al-Thihli,K., Al Futaisi,A., Al Mamari,W., Al-Murshedi,F. and
            Al-Jasmi,F.
  TITLE     Expanding the clinical spectrum of cytosolic phosphoenolpyruvate
            carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf
            families
  JOURNAL   Orphanet J Rare Dis 18 (1), 344 (2023)
   PUBMED   37924129
  REMARK    GeneRIF: Expanding the clinical spectrum of cytosolic
            phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants
            in four Arabian Gulf families.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4320)
  AUTHORS   Yu,Z., Chen,C., Gu,H., Dong,J., Zhang,Y., Wang,J., Ma,H. and
            Zhang,G.
  TITLE     Suppression of SLC39A6-CREB1 axis in liver cancer causes
            PCK1-mediated mitochondrial dysfunction
  JOURNAL   Cell Prolif 56 (10), e13527 (2023)
   PUBMED   37435980
  REMARK    GeneRIF: Suppression of SLC39A6-CREB1 axis in liver cancer causes
            PCK1-mediated mitochondrial dysfunction.
REFERENCE   5  (bases 1 to 4320)
  AUTHORS   Gou,D., Liu,R., Shan,X., Deng,H., Chen,C., Xiang,J., Liu,Y.,
            Gao,Q., Li,Z., Huang,A., Wang,K. and Tang,N.
  TITLE     Gluconeogenic enzyme PCK1 supports S-adenosylmethionine
            biosynthesis and promotes H3K9me3 modification to suppress
            hepatocellular carcinoma progression
  JOURNAL   J Clin Invest 133 (13), e161713 (2023)
   PUBMED   37166978
  REMARK    GeneRIF: Gluconeogenic enzyme PCK1 supports S-adenosylmethionine
            biosynthesis and promotes H3K9me3 modification to suppress
            hepatocellular carcinoma progression.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4320)
  AUTHORS   Ting,C.N., Burgess,D.L., Chamberlain,J.S., Keith,T.P., Falls,K. and
            Meisler,M.H.
  TITLE     Phosphoenolpyruvate carboxykinase (GTP): characterization of the
            human PCK1 gene and localization distal to MODY on chromosome 20
  JOURNAL   Genomics 16 (3), 698-706 (1993)
   PUBMED   8325643
REFERENCE   7  (bases 1 to 4320)
  AUTHORS   Stoffel,M., Xiang,K.S., Espinosa,R. 3rd, Cox,N.J., Le Beau,M.M. and
            Bell,G.I.
  TITLE     cDNA sequence and localization of polymorphic human cytosolic
            phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20,
            band q13.31: PCK1 is not tightly linked to maturity-onset diabetes
            of the young
  JOURNAL   Hum Mol Genet 2 (1), 1-4 (1993)
   PUBMED   8490617
REFERENCE   8  (bases 1 to 4320)
  AUTHORS   Yu,H., Thun,R., Chandrasekharappa,S., Trent,J.M., Zhang,J. and
            Meisler,M.H.
  TITLE     Human PCK1 encoding phosphoenolpyruvate carboxykinase is located on
            chromosome 20q13.2
  JOURNAL   Genomics 15 (1), 219-221 (1993)
   PUBMED   8432541
REFERENCE   9  (bases 1 to 4320)
  AUTHORS   Pilz,A.J., Willer,E., Povey,S. and Abbott,C.M.
  TITLE     The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and
            neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4)
            map to human chromosome 20, extending the known region of homology
            with mouse chromosome 2
  JOURNAL   Ann Hum Genet 56 (4), 289-293 (1992)
   PUBMED   1492743
REFERENCE   10 (bases 1 to 4320)
  AUTHORS   Giralt,M., Park,E.A., Gurney,A.L., Liu,J.S., Hakimi,P. and
            Hanson,R.W.
  TITLE     Identification of a thyroid hormone response element in the
            phosphoenolpyruvate carboxykinase (GTP) gene. Evidence for
            synergistic interaction between thyroid hormone and cAMP
            cis-regulatory elements
  JOURNAL   J Biol Chem 266 (32), 21991-21996 (1991)
   PUBMED   1657985
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM758256.1, DB187814.1,
            BJ993061.1, BC023978.1, AW007566.1 and AL035541.15.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002591.3.
            
            Summary: This gene is a main control point for the regulation of
            gluconeogenesis. The cytosolic enzyme encoded by this gene, along
            with GTP, catalyzes the formation of phosphoenolpyruvate from
            oxaloacetate, with the release of carbon dioxide and GDP. The
            expression of this gene can be regulated by insulin,
            glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are
            a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency.
            A mitochondrial isozyme of the encoded protein also has been
            characterized. [provided by RefSeq, Jul 2008].
            
            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 :: SRR5189664.121557.1,
                                           SRR5189664.142737.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319441.6/ ENSP00000319814.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 BM758256.1         33-33
            2-580               DB187814.1         2-580
            581-939             BJ993061.1         71-429
            940-2122            BC023978.1         944-2126
            2123-2360           AW007566.1         310-547             c
            2361-2656           AW007566.1         8-303               c
            2657-4320           AL035541.15        42301-43964
FEATURES             Location/Qualifiers
     source          1..4320
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.31"
     gene            1..4320
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /note="phosphoenolpyruvate carboxykinase 1"
                     /db_xref="GeneID:5105"
                     /db_xref="HGNC:HGNC:8724"
                     /db_xref="MIM:614168"
     exon            1..94
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /inference="alignment:Splign:2.1.0"
     exon            95..358
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /inference="alignment:Splign:2.1.0"
     CDS             135..2003
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /EC_number="4.1.1.32"
                     /note="phosphoenolpyruvate carboxylase; phosphopyruvate
                     carboxylase; PEP carboxykinase; phosphoenolpyruvate
                     carboxykinase, cytosolic; phosphoenolpyruvate
                     carboxykinase 1 (soluble); serine-protein kinase PCK1"
                     /codon_start=1
                     /product="phosphoenolpyruvate carboxykinase, cytosolic
                     [GTP]"
                     /protein_id="NP_002582.3"
                     /db_xref="CCDS:CCDS13460.1"
                     /db_xref="GeneID:5105"
                     /db_xref="HGNC:HGNC:8724"
                     /db_xref="MIM:614168"
                     /translation="MPPQLQNGLNLSAKVVQGSLDSLPQAVREFLENNAELCQPDHIH
                     ICDGSEEENGRLLGQMEEEGILRRLKKYDNCWLALTDPRDVARIESKTVIVTQEQRDT
                     VPIPKTGLSQLGRWMSEEDFEKAFNARFPGCMKGRTMYVIPFSMGPLGSPLSKIGIEL
                     TDSPYVVASMRIMTRMGTPVLEAVGDGEFVKCLHSVGCPLPLQKPLVNNWPCNPELTL
                     IAHLPDRREIISFGSGYGGNSLLGKKCFALRMASRLAKEEGWLAEHMLILGITNPEGE
                     KKYLAAAFPSACGKTNLAMMNPSLPGWKVECVGDDIAWMKFDAQGHLRAINPENGFFG
                     VAPGTSVKTNPNAIKTIQKNTIFTNVAETSDGGVYWEGIDEPLASGVTITSWKNKEWS
                     SEDGEPCAHPNSRFCTPASQCPIIDAAWESPEGVPIEGIIFGGRRPAGVPLVYEALSW
                     QHGVFVGAAMRSEATAAAEHKGKIIMHDPFAMRPFFGYNFGKYLAHWLSMAQHPAAKL
                     PKIFHVNWFRKDKEGKFLWPGFGENSRVLEWMFNRIDGKASTKLTPIGYIPKEDALNL
                     KGLGHINMMELFSISKEFWEKEVEDIEKYLEDQVNADLPCEIEREILALKQRISQM"
     exon            359..540
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /inference="alignment:Splign:2.1.0"
     exon            541..744
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /inference="alignment:Splign:2.1.0"
     exon            745..932
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /inference="alignment:Splign:2.1.0"
     exon            933..1095
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1320
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /inference="alignment:Splign:2.1.0"
     exon            1321..1452
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..1548
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /inference="alignment:Splign:2.1.0"
     exon            1549..4320
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2636..2641
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /note="hexamer: AATGAA"
     polyA_site      2656
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /note="major polyA site"
     regulatory      3300..3305
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /note="hexamer: CATAAA"
     polyA_site      3339
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
     regulatory      4289..4294
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
                     /note="hexamer: AATAAA"
     polyA_site      4320
                     /gene="PCK1"
                     /gene_synonym="PCKDC; PEPCK-C; PEPCK1; PEPCKC"
ORIGIN      
        1 acggccttcc cactgggaac acaaacttgc tggcgggaag agcccggaaa gaaacctgtg
       61 gatctccctt cgagatcatc caaagagaag aaaggtgacc tcacattcgt gccccttagc
      121 agcactctgc agaaatgcct cctcagctgc aaaacggcct gaacctctcg gccaaagttg
      181 tccagggaag cctggacagc ctaccccagg cagtgaggga gtttctcgag aataacgctg
      241 agctgtgtca gcctgatcac atccacatct gtgacggctc tgaggaggag aatgggcggc
      301 ttctgggcca gatggaggaa gagggcatcc tcaggcggct gaagaagtat gacaactgct
      361 ggttggctct cactgacccc agggatgtgg ccaggatcga aagcaagacg gttatcgtca
      421 cccaagagca aagagacaca gtgcccatcc ccaaaacagg cctcagccag ctcggtcgct
      481 ggatgtcaga ggaggatttt gagaaagcgt tcaatgccag gttcccaggg tgcatgaaag
      541 gtcgcaccat gtacgtcatc ccattcagca tggggccgct gggctcgcct ctgtcaaaga
      601 tcggcatcga gctgacggat tcaccctacg tggtggccag catgcggatc atgacgcgga
      661 tgggcacgcc cgtcctggaa gcagtgggcg atggggagtt tgtcaaatgc ctccattctg
      721 tggggtgccc tctgccttta caaaagcctt tggtcaacaa ctggccctgc aacccggagc
      781 tgacgctcat cgcccacctg cctgaccgca gagagatcat ctcctttggc agtgggtacg
      841 gcgggaactc gctgctcggg aagaagtgct ttgctctcag gatggccagc cggctggcca
      901 aggaggaagg gtggctggca gagcacatgc tgattctggg tataaccaac cctgagggtg
      961 agaagaagta cctggcggcc gcatttccca gcgcctgcgg gaagaccaac ctggccatga
     1021 tgaaccccag cctccccggg tggaaggttg agtgcgtcgg ggatgacatt gcctggatga
     1081 agtttgacgc acaaggtcat ttaagggcca tcaacccaga aaatggcttt ttcggtgtcg
     1141 ctcctgggac ttcagtgaag accaacccca atgccatcaa gaccatccag aagaacacaa
     1201 tctttaccaa tgtggccgag accagcgacg ggggcgttta ctgggaaggc attgatgagc
     1261 cgctagcttc aggtgtcacc atcacgtcct ggaagaataa ggagtggagc tcagaggatg
     1321 gggaaccttg tgcccacccc aactcgaggt tctgcacccc tgccagccag tgccccatca
     1381 ttgatgctgc ctgggagtct ccggaaggtg ttcccattga aggcattatc tttggaggcc
     1441 gtagacctgc tggtgtccct ctagtctatg aagctctcag ctggcaacat ggagtctttg
     1501 tgggggcggc catgagatca gaggccacag cggctgcaga acataaaggc aaaatcatca
     1561 tgcatgaccc ctttgccatg cggcccttct ttggctacaa cttcggcaaa tacctggccc
     1621 actggcttag catggcccag cacccagcag ccaaactgcc caagatcttc catgtcaact
     1681 ggttccggaa ggacaaggaa ggcaaattcc tctggccagg ctttggagag aactccaggg
     1741 tgctggagtg gatgttcaac cggatcgatg gaaaagccag caccaagctc acgcccatag
     1801 gctacatccc caaggaggat gccctgaacc tgaaaggcct ggggcacatc aacatgatgg
     1861 agcttttcag catctccaag gaattctggg agaaggaggt ggaagacatc gagaagtatc
     1921 tggaggatca agtcaatgcc gacctcccct gtgaaatcga gagagagatc cttgccttga
     1981 agcaaagaat aagccagatg taatcagggc ctgagtgctt tacctttaaa atcattccct
     2041 ttcccatcca taaggtgcag taggagcaag agagggcaag tgttcccaaa ttgacgccac
     2101 cataataatc atcaccacac cgtgagcaga tctgaaaggc acactttgat ttttttaagg
     2161 ataagaacca cagaacactg ggtagtagct aatgaaattg agaagggaaa tcttagcatg
     2221 cctccaaaaa ttcacatcca atgcatagtt tgttcaaatt taaggttact caggcattga
     2281 tcttttcagt gttttttcac tttagctatg tggattagct agaatgcaca ccaaaaaaat
     2341 acttgagctg tatatatata tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgcatg
     2401 tatgtgcaca tgtgtctgtg tggtatattt gtgtatgtgt atttgtatgt actgttattg
     2461 aaaatatatt taataccttt ggaaaaatct tgggcaagat gacctactag ttttccttga
     2521 aaaaaagttg ctttgttatt aatattgtgc ttaaattatt tttatacacc attgttcctt
     2581 acctttacat aattgcaata tttccccctt actacttctt ggaaaaaaat tacaaaatga
     2641 agttttatag aaaagatgga tttgctttgc ttggtttttc ttatttgagc taccaagagg
     2701 agagaactct gattaaatat cttgtgattt aaatcctgcc ccctccccaa gaaggtgggg
     2761 acgttcagaa tcacacttga agagggggtg cattgcctgg tcccagggag aaggagggag
     2821 cagatgggga ggaatgaggc agggaaccat ggttggggtt ttctgaattt gctgaagcca
     2881 ctagttggca tcctttaaca attctacaaa cctttagatg gtgaggctta tgtggcagga
     2941 ctgggagggt ttaatgcatg ctttttgaca gtttggatct ggaggggtct caggcttcca
     3001 caaaaattac attgtggaca gtttcatagg attttgcctt ttaactcttc aaagcaacag
     3061 ttttctcaac tgtcatcccc gcgggggagc agaggaagac aagtgagaag gaaaagggga
     3121 caggatctgg gttgagcaag cattaattga gcgccttctg tatcccggac atcatgccaa
     3181 caccatgggc tgcccgagaa gagaggtggg tggtttggtc cccagctctg ccttgaaccc
     3241 tcacctgctc tcctctactc ccagtgttta ttggatattc cagaacagtc caaacgaacc
     3301 ataaacttta tatcacagat tcaatctgtg taaatactat tatcttcaag ttgtagtttc
     3361 tttcttgggc ccaggctgtg aaattggctt cacccctacc acaccccagc gggcaggctt
     3421 gttcttatgt cacactccac ccctccagtc tcctcaactg gaaaacttgc ctcttttcct
     3481 cacttcctct gctccttaca atggcttcat atggaaggtg aagctgagat caccccaatt
     3541 ttacaggtga ggaaactgag gtcaagctag gagcgtccag cggggctgag aaattgccag
     3601 gatttccttc cccattaagg agctgagagt cttagctcca gacacgttgg cttgttagaa
     3661 tatcaaaacc accgaagggg aaaaaccact tactggaatt aaatgctatc tgctgtatta
     3721 gtttaaatca gtggcgttca aacttgtttc tccttttcac tgcggaacac gttcttgaca
     3781 tgtacttgac tcagagtccc atgtctaaag gagacagagc ccaaggcagc ccacctgaag
     3841 ctggggaggg agtccaaagt gcaagccacc tggtctccat ttccccgccc cttgggggcc
     3901 tttgggcagc tccttggacc cctgaaagag gccaccagga taaactttgt taaaatgcat
     3961 gccttgtgcc ccactgtcct attacgggct ttcagtagtc tccactccct cggcaggcaa
     4021 agacactggc catctccaaa ttccctcccc tcctgcacag catcagccac ctggcaagca
     4081 gtctcacata ggaccatttg ccagcaggcc ctgcaagcct gggggacagc ctagaggagg
     4141 tgacttacat acacagcata agagttttca ggagaccaaa aagattcaat atatgtcatt
     4201 aactcctgac tcagtttccc caaaccatgc ctcctgagtg ctccctctgt ctccaaatcc
     4261 tgatttttgt gcgcggaccc ctgtctacaa taaacaggat cctatgactt ctttcttcaa
//
