LOCUS       NM_001143674            2223 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial pyruvate carrier 2 (MPC2), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001143674
VERSION     NM_001143674.4
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 2223)
  AUTHORS   Pujol,C., Lebigot,E., Gaignard,P., Galai,S., Kraoua,I., Bault,J.P.,
            Dard,R., Youssef-Turki,I.B., Omar,S., Boutron,A., Wai,T. and
            Slama,A.
  TITLE     MPC2 variants disrupt mitochondrial pyruvate metabolism and cause
            an early-onset mitochondriopathy
  JOURNAL   Brain 146 (3), 858-864 (2023)
   PUBMED   36417180
  REMARK    GeneRIF: MPC2 variants disrupt mitochondrial pyruvate metabolism
            and cause an early-onset mitochondriopathy.
REFERENCE   2  (bases 1 to 2223)
  AUTHORS   Tavoulari,S., Schirris,T.J.J., Mavridou,V., Thangaratnarajah,C.,
            King,M.S., Jones,D.T.D., Ding,S., Fearnley,I.M. and Kunji,E.R.S.
  TITLE     Key features of inhibitor binding to the human mitochondrial
            pyruvate carrier hetero-dimer
  JOURNAL   Mol Metab 60, 101469 (2022)
   PUBMED   35278701
REFERENCE   3  (bases 1 to 2223)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 2223)
  AUTHORS   Xu,L., Phelix,C.F. and Chen,L.Y.
  TITLE     Structural Insights into the Human Mitochondrial Pyruvate Carrier
            Complexes
  JOURNAL   J Chem Inf Model 61 (11), 5614-5625 (2021)
   PUBMED   34664967
  REMARK    GeneRIF: Structural Insights into the Human Mitochondrial Pyruvate
            Carrier Complexes.
REFERENCE   5  (bases 1 to 2223)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 2223)
  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
REFERENCE   7  (bases 1 to 2223)
  AUTHORS   Shi,Y., Li,Z., Xu,Q., Wang,T., Li,T., Shen,J., Zhang,F., Chen,J.,
            Zhou,G., Ji,W., Li,B., Xu,Y., Liu,D., Wang,P., Yang,P., Liu,B.,
            Sun,W., Wan,C., Qin,S., He,G., Steinberg,S., Cichon,S., Werge,T.,
            Sigurdsson,E., Tosato,S., Palotie,A., Nothen,M.M., Rietschel,M.,
            Ophoff,R.A., Collier,D.A., Rujescu,D., Clair,D.S., Stefansson,H.,
            Stefansson,K., Ji,J., Wang,Q., Li,W., Zheng,L., Zhang,H., Feng,G.
            and He,L.
  TITLE     Common variants on 8p12 and 1q24.2 confer risk of schizophrenia
  JOURNAL   Nat Genet 43 (12), 1224-1227 (2011)
   PUBMED   22037555
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2223)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   9  (bases 1 to 2223)
  AUTHORS   Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals
            suggestive QTLs associated with essential hypertension: GenNet
            study
  JOURNAL   Eur J Hum Genet 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2223)
  AUTHORS   Tsou,A.P., Lai,C., Danielson,P., Noonan,D.J. and Sutcliffe,J.G.
  TITLE     Structural characterization of a heterogeneous family of rat brain
            mRNAs
  JOURNAL   Mol Cell Biol 6 (3), 768-778 (1986)
   PUBMED   3022128
  REMARK    GeneRIF: characterization of the rat ortholog
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            KF455056.1, AL035304.1 and Z97876.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001143674.3.
            
            Transcript Variant: This variant (1) encodes a functional protein.
            Variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR5189667.374384.1,
                                           SRR5189667.392642.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000271373.9/
                                                  ENSP00000271373.4
            RefSeq Select criteria             :: based on conservation,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                KF455056.1         152-183             c
            33-71               AL035304.1         1-39
            72-72               KF455056.1         112-112             c
            73-830              AL035304.1         41-798
            831-2223            Z97876.1           70637-72029         c
FEATURES             Location/Qualifiers
     source          1..2223
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.2"
     gene            1..2223
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /note="mitochondrial pyruvate carrier 2"
                     /db_xref="GeneID:25874"
                     /db_xref="HGNC:HGNC:24515"
                     /db_xref="MIM:614737"
     exon            1..134
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /inference="alignment:Splign:2.1.0"
     exon            135..300
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             192..575
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /note="brain protein 44"
                     /codon_start=1
                     /product="mitochondrial pyruvate carrier 2"
                     /protein_id="NP_001137146.1"
                     /db_xref="CCDS:CCDS1266.1"
                     /db_xref="GeneID:25874"
                     /db_xref="HGNC:HGNC:24515"
                     /db_xref="MIM:614737"
                     /translation="MSAAGARGLRATYHRLLDKVELMLPEKLRPLYNHPAGPRTVFFW
                     APIMKWGLVCAGLADMARPAEKLSTAQSAVLMATGFIWSRYSLVIIPKNWSLFAVNFF
                     VGAAGASQLFRIWRYNQELKAKAHK"
     exon            301..341
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /inference="alignment:Splign:2.1.0"
     exon            342..426
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /inference="alignment:Splign:2.1.0"
     exon            427..538
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /inference="alignment:Splign:2.1.0"
     exon            539..2223
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      806..811
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /note="hexamer: AATAAA"
     polyA_site      826
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /note="major polyA site"
     regulatory      2153..2158
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /note="hexamer: ATTAAA"
     polyA_site      2171
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
     regulatory      2193..2198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
                     /note="hexamer: ATTAAA"
     polyA_site      2223
                     /gene="MPC2"
                     /gene_synonym="BRP44; SLC54A2"
ORIGIN      
        1 agcgtgcccc ctcccccact ctaggcggcg acctcagcgc ctccgccccg gggcccccgc
       61 tcacccaggt agcgactccg cagccgggac gggtcctcca gcccgaggga ccttttcctc
      121 acgtcccaca acagccaggg acgagaacac agccacgctc ccacccggct gccaacgatc
      181 cctcggcggc gatgtcggcc gccggtgccc gaggcctgcg ggccacctac caccggctcc
      241 tcgataaagt ggagctgatg ctgcccgaga aattgaggcc gttgtacaac catccagcag
      301 gtcccagaac agttttcttc tgggctccaa ttatgaaatg ggggttggtg tgtgctggat
      361 tggctgatat ggccagacct gcagaaaaac ttagcacagc tcaatctgct gttttgatgg
      421 ctacagggtt tatttggtca agatactcac ttgtaattat tccaaaaaat tggagtctgt
      481 ttgctgttaa tttctttgtg ggggcagcag gagcctctca gctttttcgt atttggagat
      541 ataaccaaga actaaaagct aaagcacaca aataaaagag ttcctgatca cctgaacaat
      601 ctagatgtgg acaaaaccat tgggacctag tttattattt ggttattgat aaagcaaagc
      661 taactgtgtg tttagaaggc actgtaactg gtagctagtt cttgattcaa tagaaaaatg
      721 cagcaaactt ttaataacag tctctctaca tgacttaagg aacttatcta tggatattag
      781 taacattttt ctaccatttg tccgtaataa accatacttg ctcgtatata ccccctgcct
      841 ccttctgttc cagtcagcca acatatgtac ataaaagaac acacaaattc aagaagttgg
      901 aagattaaat tatctgctta tttagtgtag gatggtcagg tagctagcta taagtgaaag
      961 gaaattttgc tgaagagact gagaaatggg tagtggaatg actatcaaga tgacctcaaa
     1021 ctatttaaaa acattttaac ttgccatgaa gaatcttgat gatttttgta taaatgttgt
     1081 ataaaattct tttacagcta cagattttta aataggatca ttgtaaagat taatgagata
     1141 atgttttaac atagtgcctg gtccatgata agtgttaaat ttttcaatta ccctcagtaa
     1201 ctgataatgt agcagaaaat actctatatt cagacagacc tgaatttgaa tcccagctct
     1261 atgacttatc tgttgtgact tttttttttt tttttttttt gagacagggt ctcgctctgt
     1321 ggcccaggct ggagtgcagt ggcacaatct cggctcactg caaaccctac ctcctgggct
     1381 caagtgatcc tcctgcctca gcctcccgag cagctgggac tacaggcaca caccaccaca
     1441 cccagctaat ttttgtattt ttgtagaggt agggttttgt catgttgccc aggctggtct
     1501 cgaactcctg ggctcaggtg atctgcccgc ctcgtcctgt caaagtgctg gaatacaggc
     1561 atgagccacc atacccagcc tatgctgtga ctttagacaa gttaggaaag tacctagcag
     1621 agtacctggg acataagtag gttttctgta aatgtttgtg acctttggct ccgttgtgag
     1681 gagagactga gcatacatta ctccacgcta caaataatta actatctatt tgatttgact
     1741 ttcagtgtgg agtgcagagc tttttttcta aaagtgctaa taaagccagt cctcattaaa
     1801 aatatagtca gatgagtcag caaagcaagt tatttcaaaa tttgaagaaa tgagacaaaa
     1861 caactttttg agtaatacta taacctatga aaatttggca gttagcaatt gaaaaccttg
     1921 tactttatca tctgtccctt aaccatggcc taccattgag gagaaaagat tagagagctt
     1981 gacataggcc acaatgaaga ggttctgaag agtcaaacta ttattgcttt catttcataa
     2041 accacactgt taaattcatt tgtgtgtttg gcatgggtgt gcacacatgt gtttcctagg
     2101 ttaagcattt aggaaaaaca ttatgaaata tgacatagac acaaaaaagt ttattaaaaa
     2161 tttatgtgag cttggtgttt cacttccttt tcattaaaac ctcttctgtg cggggtctcc
     2221 taa
//
