LOCUS       NM_016098                904 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens mitochondrial pyruvate carrier 1 (MPC1), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016098
VERSION     NM_016098.4
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 904)
  AUTHORS   Li,M., Xu,T., Yang,R., Wang,X., Zhang,J. and Wu,S.
  TITLE     Exploring MPC1 as a potential ferroptosis-linked biomarker in the
            cervical cancer tumor microenvironment: a comprehensive analysis
  JOURNAL   BMC Cancer 24 (1), 1258 (2024)
   PUBMED   39390460
  REMARK    GeneRIF: Exploring MPC1 as a potential ferroptosis-linked biomarker
            in the cervical cancer tumor microenvironment: a comprehensive
            analysis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 904)
  AUTHORS   Furusawa,T., Cavero,R., Liu,Y., Li,H., Xu,X., Andresson,T.,
            Reinhold,W., White,O., Boufraqech,M., Meyer,T.J., Hartmann,O.,
            Diefenbacher,M.E., Pommier,Y. and Weyemi,U.
  TITLE     Metabolism-focused CRISPR screen unveils mitochondrial pyruvate
            carrier 1 as a critical driver for PARP inhibitor resistance in
            lung cancer
  JOURNAL   Mol Carcinog 63 (6), 1024-1037 (2024)
   PUBMED   38411275
  REMARK    GeneRIF: Metabolism-focused CRISPR screen unveils mitochondrial
            pyruvate carrier 1 as a critical driver for PARP inhibitor
            resistance in lung cancer.
REFERENCE   3  (bases 1 to 904)
  AUTHORS   Farook,M.R., Croxford,Z., Morgan,S., Horlock,A.D., Holt,A.K.,
            Rees,A., Jenkins,B.J., Tse,C., Stanton,E., Davies,D.M.,
            Thornton,C.A., Jones,N., Sheldon,I.M., Vincent,E.E. and Cronin,J.G.
  TITLE     Loss of mitochondrial pyruvate carrier 1 supports proline-dependent
            proliferation and collagen biosynthesis in ovarian cancer
  JOURNAL   Mol Metab 81, 101900 (2024)
   PUBMED   38354856
  REMARK    GeneRIF: Loss of mitochondrial pyruvate carrier 1 supports
            proline-dependent proliferation and collagen biosynthesis in
            ovarian cancer.
REFERENCE   4  (bases 1 to 904)
  AUTHORS   Gao,R., Li,Y., Xu,Z., Zhang,F., Xu,J., Hu,Y., Yin,J., Yang,K.,
            Sun,L., Wang,Q., He,X. and Huang,K.
  TITLE     Mitochondrial pyruvate carrier 1 regulates fatty acid synthase
            lactylation and mediates treatment of nonalcoholic fatty liver
            disease
  JOURNAL   Hepatology 78 (6), 1800-1815 (2023)
   PUBMED   36651176
  REMARK    GeneRIF: Mitochondrial pyruvate carrier 1 regulates fatty acid
            synthase lactylation and mediates treatment of nonalcoholic fatty
            liver disease.
REFERENCE   5  (bases 1 to 904)
  AUTHORS   Chen,L.C., Chen,Y.J., Lin,H.A., Chien,W.C., Tsai,K.J., Chung,C.H.,
            Wang,J.Y., Chen,C.C., Liao,N.S., Shih,C.T., Lin,Y.Y., Huang,C.N.,
            Ojcius,D.M., Huang,K.Y. and Lin,H.C.
  TITLE     Inactivation of mitochondrial pyruvate carrier promotes NLRP3
            inflammasome activation and gout development via metabolic
            reprogramming
  JOURNAL   Immunology 169 (3), 271-291 (2023)
   PUBMED   36708143
  REMARK    GeneRIF: Inactivation of mitochondrial pyruvate carrier promotes
            NLRP3 inflammasome activation and gout development via metabolic
            reprogramming.
REFERENCE   6  (bases 1 to 904)
  AUTHORS   Bricker,D.K., Taylor,E.B., Schell,J.C., Orsak,T., Boutron,A.,
            Chen,Y.C., Cox,J.E., Cardon,C.M., Van Vranken,J.G., Dephoure,N.,
            Redin,C., Boudina,S., Gygi,S.P., Brivet,M., Thummel,C.S. and
            Rutter,J.
  TITLE     A mitochondrial pyruvate carrier required for pyruvate uptake in
            yeast, Drosophila, and humans
  JOURNAL   Science 337 (6090), 96-100 (2012)
   PUBMED   22628558
  REMARK    GeneRIF: genetic studies of 3 families with children suffering from
            lactic acidosis and hyperpyruvatemia revealed a causal locus that
            mapped to MPC1 (BRP44L) changing single amino acids that are
            conserved throughout eukaryotes; data demonstrate that Mpc1 and
            Mpc2 form an essential part of the mitochondrial pyruvate carrier
REFERENCE   7  (bases 1 to 904)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 904)
  AUTHORS   Wheeler,H.E., Metter,E.J., Tanaka,T., Absher,D., Higgins,J.,
            Zahn,J.M., Wilhelmy,J., Davis,R.W., Singleton,A., Myers,R.M.,
            Ferrucci,L. and Kim,S.K.
  TITLE     Sequential use of transcriptional profiling, expression
            quantitative trait mapping, and gene association implicates MMP20
            in human kidney aging
  JOURNAL   PLoS Genet 5 (10), e1000685 (2009)
   PUBMED   19834535
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 904)
  AUTHORS   Szafranski,K., Schindler,S., Taudien,S., Hiller,M., Huse,K.,
            Jahn,N., Schreiber,S., Backofen,R. and Platzer,M.
  TITLE     Violating the splicing rules: TG dinucleotides function as
            alternative 3' splice sites in U2-dependent introns
  JOURNAL   Genome Biol 8 (8), R154 (2007)
   PUBMED   17672918
  REMARK    GeneRIF: the apparent occurrence of an unusual TG 3' splice site in
            intron 1 is discussed
REFERENCE   10 (bases 1 to 904)
  AUTHORS   Trachtulec,Z. and Forejt,J.
  TITLE     Synteny of orthologous genes conserved in mammals, snake, fly,
            nematode, and fission yeast
  JOURNAL   Mamm Genome 12 (3), 227-231 (2001)
   PUBMED   11252172
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG828174.1 and AL556427.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016098.3.
            
            Summary: The protein encoded by this gene is part of an MPC1/MPC2
            heterodimer that is responsible for transporting pyruvate into
            mitochondria. The encoded protein is found in the inner
            mitochondrial membrane. Defects in this gene are a cause of
            mitochondrial pyruvate carrier deficiency. Several transcript
            variants, some protein coding and one non-protein coding, have been
            found for this gene. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1) 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 :: SRR1163657.216297.1,
                                           SRR1163655.235668.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151358, SAMEA2153932
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000360961.11/
                                                  ENSP00000354223.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                BG828174.1         33-66
            35-904              AL556427.3         27-896
FEATURES             Location/Qualifiers
     source          1..904
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     gene            1..904
                     /gene="MPC1"
                     /gene_synonym="BRP44L; CGI-129; MPYCD; SLC54A1"
                     /note="mitochondrial pyruvate carrier 1"
                     /db_xref="GeneID:51660"
                     /db_xref="HGNC:HGNC:21606"
                     /db_xref="MIM:614738"
     exon            1..135
                     /gene="MPC1"
                     /gene_synonym="BRP44L; CGI-129; MPYCD; SLC54A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..394
                     /gene="MPC1"
                     /gene_synonym="BRP44L; CGI-129; MPYCD; SLC54A1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     HSPC040 protein; brain protein 44-like protein"
                     /codon_start=1
                     /product="mitochondrial pyruvate carrier 1 isoform 1"
                     /protein_id="NP_057182.1"
                     /db_xref="CCDS:CCDS5293.1"
                     /db_xref="GeneID:51660"
                     /db_xref="HGNC:HGNC:21606"
                     /db_xref="MIM:614738"
                     /translation="MAGALVRKAADYVRSKDFRDYLMSTHFWGPVANWGLPIAAINDM
                     KKSPEIISGRMTFALCCYSLTFMRFAYKVQPRNWLLFACHATNEVAQLIQGGRLIKHE
                     MTKTASA"
     exon            136..139
                     /gene="MPC1"
                     /gene_synonym="BRP44L; CGI-129; MPYCD; SLC54A1"
                     /inference="alignment:Splign:2.1.0"
     exon            140..236
                     /gene="MPC1"
                     /gene_synonym="BRP44L; CGI-129; MPYCD; SLC54A1"
                     /inference="alignment:Splign:2.1.0"
     exon            237..369
                     /gene="MPC1"
                     /gene_synonym="BRP44L; CGI-129; MPYCD; SLC54A1"
                     /inference="alignment:Splign:2.1.0"
     exon            370..904
                     /gene="MPC1"
                     /gene_synonym="BRP44L; CGI-129; MPYCD; SLC54A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      879..884
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPC1"
                     /gene_synonym="BRP44L; CGI-129; MPYCD; SLC54A1"
                     /note="hexamer: AATAAA"
     polyA_site      904
                     /gene="MPC1"
                     /gene_synonym="BRP44L; CGI-129; MPYCD; SLC54A1"
                     /note="major polyA site"
ORIGIN      
        1 gtcattggct ctgggaagcg gcagcagagg cagggaccac tcggggtctg gtgtcggcac
       61 agccatggcg ggcgcgttgg tgcggaaagc ggcggactat gtccgaagca aggatttccg
      121 ggactacctc atgagtacgc acttctgggg cccagtagcc aactggggtc ttcccattgc
      181 tgccatcaat gatatgaaaa agtctccaga gattatcagt gggcggatga catttgccct
      241 ctgttgctat tctttgacat tcatgagatt tgcctacaag gtacagcctc ggaactggct
      301 tctgtttgca tgccacgcaa caaatgaagt agcccagctc atccagggag ggcggcttat
      361 caaacacgag atgactaaaa cggcatctgc ataacaatgg aaaaggaaga acaaggtctt
      421 gaagggacag cattgccagc tgctgctgag tcacagattt cattataaat agcctcccta
      481 aggaaaatac actgaatgct atttttacta accattctat ttttatagaa atagctgaga
      541 gtttctaaac caactctctg ctgccttaca agtattaaat attttacttc tttccataaa
      601 gagtagctca aaatatgcaa ttaatttaat aatttctgat gatggtttta tctgcagtaa
      661 tatgtatatc atctattaga atttacttaa tgaaaaactg aagagaacaa aatttgtaac
      721 cactagcact taagtactcc tgattcttaa cattgtcttt aatgaccaca agacaaccaa
      781 cagctggcca cgtacttaaa attttgtccc cactgtttaa aaatgttacc tgtgtatttc
      841 catgcagtgt atatattgag atgctgtaac ttaatggcaa taaatgattt aaatatttgt
      901 taaa
//
