LOCUS       NM_004563               2179 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens phosphoenolpyruvate carboxykinase 2, mitochondrial
            (PCK2), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_004563
VERSION     NM_004563.4
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 2179)
  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 2179)
  AUTHORS   Jing,N., Tao,Z., Du,X., Wen,Z., Gao,W.Q., Dong,B. and Fang,Y.X.
  TITLE     Targeting SOX4/PCK2 signaling suppresses neuroendocrine
            trans-differentiation of castration-resistant prostate cancer
  JOURNAL   Biol Direct 19 (1), 56 (2024)
   PUBMED   39014441
  REMARK    GeneRIF: Targeting SOX4/PCK2 signaling suppresses neuroendocrine
            trans-differentiation of castration-resistant prostate cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2179)
  AUTHORS   Li,C., Zhang,E.D., Ye,Y., Xiao,Z., Huang,H. and Zeng,Z.
  TITLE     Association of mitochondrial phosphoenolpyruvate carboxykinase with
            prognosis and immune regulation in hepatocellular carcinoma
  JOURNAL   Sci Rep 14 (1), 14051 (2024)
   PUBMED   38890507
  REMARK    GeneRIF: Association of mitochondrial phosphoenolpyruvate
            carboxykinase with prognosis and immune regulation in
            hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2179)
  AUTHORS   He,X., Zhong,X., Fang,Y., Hu,Z., Chen,Z., Wang,Y., Huang,H.,
            Zhao,S., Li,D. and Wei,P.
  TITLE     AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated
            PCK2 and FBP1 transcription
  JOURNAL   Clin Transl Med 13 (8), e1352 (2023)
   PUBMED   37565737
  REMARK    GeneRIF: AF9 sustains glycolysis in colorectal cancer via
            H3K9ac-mediated PCK2 and FBP1 transcription.
REFERENCE   5  (bases 1 to 2179)
  AUTHORS   Inoue,E. and Yamauchi,J.
  TITLE     AMP-activated protein kinase regulates PEPCK gene expression by
            direct phosphorylation of a novel zinc finger transcription factor
  JOURNAL   Biochem Biophys Res Commun 351 (4), 793-799 (2006)
   PUBMED   17097062
  REMARK    GeneRIF: Wild-type AREBP, but not Ser(470) to Ala(470) substituted
            non-phosphorylating mutant, represses gene expression of the
            phosphoenolpyruvate carboxykinase (PEPCK), a key enzyme of
            gluconeogenesis.
REFERENCE   6  (bases 1 to 2179)
  AUTHORS   Shin,H.D., Park,B.L., Kim,L.H., Cheong,H.S., Kim,J.H., Cho,Y.M.,
            Lee,H.K. and Park,K.S.
  TITLE     Association of a polymorphism in the gene encoding
            phosphoenolpyruvate carboxykinase 1 with high-density lipoprotein
            and triglyceride levels
  JOURNAL   Diabetologia 48 (10), 2025-2032 (2005)
   PUBMED   16132948
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2179)
  AUTHORS   Suzuki,M., Yamasaki,T., Shinohata,R., Hata,M., Nakajima,H. and
            Kono,N.
  TITLE     Cloning and reporter analysis of human mitochondrial
            phosphoenolpyruvate carboxykinase gene promoter
  JOURNAL   Gene 338 (2), 157-162 (2004)
   PUBMED   15315819
  REMARK    GeneRIF: Results suggest that pepck2 gene expression is regulated
            by its 5' flanking region up to 822 bp, and 317 bp upstream of
            transcriptional start point.
REFERENCE   8  (bases 1 to 2179)
  AUTHORS   Horikawa,Y., Yamasaki,T., Nakajima,H., Shingu,R., Yoshiuchi,I.,
            Miyagawa,J., Namba,M., Hanafusa,T. and Matsuzawa,Y.
  TITLE     Identification of a novel variant in the phosphoenolpyruvate
            carboxykinase gene promoter in Japanese patients with type 2
            diabetes
  JOURNAL   Horm Metab Res 35 (5), 308-312 (2003)
   PUBMED   12916001
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2179)
  AUTHORS   Modaressi,S., Brechtel,K., Christ,B. and Jungermann,K.
  TITLE     Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene.
            Structure, chromosomal localization and tissue-specific expression
  JOURNAL   Biochem J 333 (Pt 2) (Pt 2), 359-366 (1998)
   PUBMED   9657976
REFERENCE   10 (bases 1 to 2179)
  AUTHORS   Modaressi,S., Christ,B., Bratke,J., Zahn,S., Heise,T. and
            Jungermann,K.
  TITLE     Molecular cloning, sequencing and expression of the cDNA of the
            mitochondrial form of phosphoenolpyruvate carboxykinase from human
            liver
  JOURNAL   Biochem J 315 (Pt 3) (Pt 3), 807-814 (1996)
   PUBMED   8645161
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB028389.1 and AK129934.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004563.3.
            
            Summary: This gene encodes a mitochondrial enzyme that catalyzes
            the conversion of oxaloacetate to phosphoenolpyruvate in the
            presence of guanosine triphosphate (GTP). A cytosolic form of this
            protein is encoded by a different gene and is the key enzyme of
            gluconeogenesis in the liver. Alternatively spliced transcript
            variants have been described. [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: SRR7346977.832540.1, GQ891518.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000216780.9/
                                                  ENSP00000216780.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DB028389.1         174-175
            3-2179              AK129934.1         1-2177
FEATURES             Location/Qualifiers
     source          1..2179
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2-q12"
     gene            1..2179
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /note="phosphoenolpyruvate carboxykinase 2, mitochondrial"
                     /db_xref="GeneID:5106"
                     /db_xref="HGNC:HGNC:8725"
                     /db_xref="MIM:614095"
     exon            1..124
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..2018
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /EC_number="4.1.1.32"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; PEP carboxykinase; phosphopyruvate carboxylase;
                     phosphoenolpyruvate carboxykinase [GTP], mitochondrial;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="phosphoenolpyruvate carboxykinase [GTP],
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_004554.3"
                     /db_xref="CCDS:CCDS9609.1"
                     /db_xref="GeneID:5106"
                     /db_xref="HGNC:HGNC:8725"
                     /db_xref="MIM:614095"
                     /translation="MAALYRPGLRLNWHGLSPLGWPSCRSIQTLRVLSGDLGQLPTGI
                     RDFVEHSARLCQPEGIHICDGTEAENTATLTLLEQQGLIRKLPKYNNCWLARTDPKDV
                     ARVESKTVIVTPSQRDTVPLPPGGARGQLGNWMSPADFQRAVDERFPGCMQGRTMYVL
                     PFSMGPVGSPLSRIGVQLTDSAYVVASMRIMTRLGTPVLQALGDGDFVKCLHSVGQPL
                     TGQGEPVSQWPCNPEKTLIGHVPDQREIISFGSGYGGNSLLGKKCFALRIASRLARDE
                     GWLAEHMLILGITSPAGKKRYVAAAFPSACGKTNLAMMRPALPGWKVECVGDDIAWMR
                     FDSEGRLRAINPENGFFGVAPGTSATTNPNAMATIQSNTIFTNVAETSDGGVYWEGID
                     QPLPPGVTVTSWLGKPWKPGDKEPCAHPNSRFCAPARQCPIMDPAWEAPEGVPIDAII
                     FGGRRPKGVPLVYEAFNWRHGVFVGSAMRSESTAAAEHKGKIIMHDPFAMRPFFGYNF
                     GHYLEHWLSMEGRKGAQLPRIFHVNWFRRDEAGHFLWPGFGENARVLDWICRRLEGED
                     SARETPIGLVPKEGALDLSGLRAIDTTQLFSLPKDFWEQEVRDIRSYLTEQVNQDLPK
                     EVLAELEALERRVHKM"
     exon            125..370
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /inference="alignment:Splign:2.1.0"
     exon            371..555
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /inference="alignment:Splign:2.1.0"
     exon            556..759
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /inference="alignment:Splign:2.1.0"
     exon            760..947
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1110
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1111..1329
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1467
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1468..1563
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1564..2179
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2156..2161
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /note="hexamer: AATAAG"
     polyA_site      2179
                     /gene="PCK2"
                     /gene_synonym="mtPCK2; PEPCK; PEPCK-M; PEPCK2"
                     /note="major polyA site"
ORIGIN      
        1 gtggctcgct tcgccgcgct ccctccttcc ccgccttcca tacctccccg gctccgctcg
       61 gttcctggcc accccgcagc ccctgcccag gtgccatggc cgcattgtac cgccctggcc
      121 tgcggcttaa ctggcatggg ctgagcccct tgggctggcc atcatgccgt agcatccaga
      181 ccctgcgagt gcttagtgga gatctgggcc agcttcccac tggcattcga gattttgtag
      241 agcacagtgc ccgcctgtgc caaccagagg gcatccacat ctgtgatgga actgaggctg
      301 agaatactgc cacactgacc ctgctggagc agcagggcct catccgaaag ctccccaagt
      361 acaataactg ctggctggcc cgcacagacc ccaaggatgt ggcacgagta gagagcaaga
      421 cggtgattgt aactccttct cagcgggaca cggtaccact cccgcctggt ggggcccgtg
      481 ggcagctggg caactggatg tccccagctg atttccagcg agctgtggat gagaggtttc
      541 caggctgcat gcagggccgc accatgtatg tgcttccatt cagcatgggt cctgtgggct
      601 ccccgctgtc ccgcatcggg gtgcagctca ctgactcagc ctatgtggtg gcaagcatgc
      661 gtattatgac ccgactgggg acacctgtgc ttcaggccct gggagatggt gactttgtca
      721 agtgtctgca ctccgtgggc cagcccctga caggacaagg ggagccagtg agccagtggc
      781 cgtgcaaccc agagaaaacc ctgattggcc acgtgcccga ccagcgggag atcatctcct
      841 tcggcagcgg ctatggtggc aactccctgc tgggcaagaa gtgctttgcc ctacgcatcg
      901 cctctcggct ggcccgggat gagggctggc tggcagagca catgctgatc ctgggcatca
      961 ccagccctgc agggaagaag cgctatgtgg cagccgcctt ccctagtgcc tgtggcaaga
     1021 ccaacctggc tatgatgcgg cctgcactgc caggctggaa agtggagtgt gtgggggatg
     1081 atattgcttg gatgaggttt gacagtgaag gtcgactccg ggccatcaac cctgagaacg
     1141 gcttctttgg ggttgcccct ggtacctctg ccaccaccaa tcccaacgcc atggctacaa
     1201 tccagagtaa cactattttt accaatgtgg ctgagaccag tgatggtggc gtgtactggg
     1261 agggcattga ccagcctctt ccacctggtg ttactgtgac ctcctggctg ggcaaaccct
     1321 ggaaacctgg tgacaaggag ccctgtgcac atcccaactc tcgattttgt gccccggctc
     1381 gccagtgccc catcatggac ccagcctggg aggccccaga gggtgtcccc attgacgcca
     1441 tcatctttgg tggccgcaga cccaaagggg tacccctggt atacgaggcc ttcaactggc
     1501 gtcatggggt gtttgtgggc agcgccatgc gctctgagtc cactgctgca gcagaacaca
     1561 aagggaagat catcatgcac gacccatttg ccatgcggcc cttttttggc tacaacttcg
     1621 ggcactacct ggaacactgg ctgagcatgg aagggcgcaa gggggcccag ctgccccgta
     1681 tcttccatgt caactggttc cggcgtgacg aggcagggca cttcctgtgg ccaggctttg
     1741 gggagaatgc tcgggtgcta gactggatct gccggcggtt agagggggag gacagtgccc
     1801 gagagacacc cattgggctg gtgccaaagg aaggagcctt ggatctcagc ggcctcagag
     1861 ctatagacac cactcagctg ttctccctcc ccaaggactt ctgggaacag gaggttcgtg
     1921 acattcggag ctacctgaca gagcaggtca accaggatct gcccaaagag gtgttggctg
     1981 agcttgaggc cctggagaga cgtgtgcaca aaatgtgacc tgaggcccta gtctagcaag
     2041 aggacatagc accctcatct gggaataggg aaggcacctt gcagaaaata tgagcaattt
     2101 gatattaact aacatcttca atgtgccata gaccttccca caaagactgt ccaataataa
     2161 gagatgctta tctatttta
//
