LOCUS       NM_138357               2937 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens mitochondrial calcium uniporter (MCU), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_138357
VERSION     NM_138357.3
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 2937)
  AUTHORS   Kadier,T., Zhang,Y.G., Jing,Y.X., Weng,Z.Y., Liao,S.S., Luo,J.,
            Ding,K., Cao,C., Chen,R. and Meng,Q.T.
  TITLE     MCU inhibition protects against intestinal ischemia-reperfusion by
            inhibiting Drp1-dependent mitochondrial fission
  JOURNAL   Free Radic Biol Med 221, 111-124 (2024)
   PUBMED   38763207
  REMARK    GeneRIF: MCU inhibition protects against intestinal
            ischemia-reperfusion by inhibiting Drp1-dependent mitochondrial
            fission.
REFERENCE   2  (bases 1 to 2937)
  AUTHORS   Venugopal,A., Iyer,M., Narayanasamy,A., Ravimanickam,T.,
            Gopalakrishnan,A.V., Yadav,M.K., Kumar,N.S. and Vellingiri,B.
  TITLE     Association of Biochemical Parameters and Screening for Mutations
            in the MCU Gene in Alzheimer's Disease Patients
  JOURNAL   Mol Neurobiol 61 (7), 4116-4128 (2024)
   PUBMED   38064106
  REMARK    GeneRIF: Association of Biochemical Parameters and Screening for
            Mutations in the MCU Gene in Alzheimer's Disease Patients.
            Erratum:[Mol Neurobiol. 2024 Jul;61(7):4129. doi:
            10.1007/s12035-024-03929-8.. PMID: 38246891]
REFERENCE   3  (bases 1 to 2937)
  AUTHORS   Ponnusamy,T., Velusamy,P. and Shanmughapriya,S.
  TITLE     Mrs2-mediated mitochondrial magnesium uptake is essential for the
            regulation of MCU-mediated mitochondrial Ca2+ uptake and viability
  JOURNAL   Mitochondrion 76, 101877 (2024)
   PUBMED   38599304
  REMARK    GeneRIF: Mrs2-mediated mitochondrial magnesium uptake is essential
            for the regulation of MCU-mediated mitochondrial Ca[2+] uptake and
            viability.
REFERENCE   4  (bases 1 to 2937)
  AUTHORS   Marmolejo-Garza,A., Krabbendam,I.E., Luu,M.D.A., Brouwer,F.,
            Trombetta-Lima,M., Unal,O., O'Connor,S.J., Majernikova,N.,
            Elzinga,C.R.S., Mammucari,C., Schmidt,M., Madesh,M., Boddeke,E. and
            Dolga,A.M.
  TITLE     Negative modulation of mitochondrial calcium uniporter complex
            protects neurons against ferroptosis
  JOURNAL   Cell Death Dis 14 (11), 772 (2023)
   PUBMED   38007529
  REMARK    GeneRIF: Negative modulation of mitochondrial calcium uniporter
            complex protects neurons against ferroptosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2937)
  AUTHORS   Raffaello,A., De Stefani,D. and Rizzuto,R.
  TITLE     The mitochondrial Ca(2+) uniporter
  JOURNAL   Cell Calcium 52 (1), 16-21 (2012)
   PUBMED   22672876
  REMARK    Review article
REFERENCE   6  (bases 1 to 2937)
  AUTHORS   Bick,A.G., Calvo,S.E. and Mootha,V.K.
  TITLE     Evolutionary diversity of the mitochondrial calcium uniporter
  JOURNAL   Science 336 (6083), 886 (2012)
   PUBMED   22605770
REFERENCE   7  (bases 1 to 2937)
  AUTHORS   Csordas,G., Varnai,P., Golenar,T., Sheu,S.S. and Hajnoczky,G.
  TITLE     Calcium transport across the inner mitochondrial membrane:
            molecular mechanisms and pharmacology
  JOURNAL   Mol Cell Endocrinol 353 (1-2), 109-113 (2012)
   PUBMED   22123069
  REMARK    Review article
REFERENCE   8  (bases 1 to 2937)
  AUTHORS   Drago,I., Pizzo,P. and Pozzan,T.
  TITLE     After half a century mitochondrial calcium in- and efflux
            machineries reveal themselves
  JOURNAL   EMBO J 30 (20), 4119-4125 (2011)
   PUBMED   21934651
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2937)
  AUTHORS   De Stefani,D., Raffaello,A., Teardo,E., Szabo,I. and Rizzuto,R.
  TITLE     A forty-kilodalton protein of the inner membrane is the
            mitochondrial calcium uniporter
  JOURNAL   Nature 476 (7360), 336-340 (2011)
   PUBMED   21685888
  REMARK    GeneRIF: Functional characterization of the MCU protein; shows that
            it is necessary for mitochondrial calcium uptake.
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 2937)
  AUTHORS   Baughman,J.M., Perocchi,F., Girgis,H.S., Plovanich,M.,
            Belcher-Timme,C.A., Sancak,Y., Bao,X.R., Strittmatter,L.,
            Goldberger,O., Bogorad,R.L., Koteliansky,V. and Mootha,V.K.
  TITLE     Integrative genomics identifies MCU as an essential component of
            the mitochondrial calcium uniporter
  JOURNAL   Nature 476 (7360), 341-345 (2011)
   PUBMED   21685886
  REMARK    GeneRIF: MCU is an oligomeric protein residing in the mitochondrial
            inner membrane that interacts with MICU1 and is necessary for
            mitochondrial calcium uniport.
            Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016542.11 and AC069548.6.
            
            On Feb 19, 2021 this sequence version replaced NM_138357.2.
            
            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 :: BC034235.1, AK075439.1 [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. :: PMID: 21685888, 21685886;
                                                  reported by MitoCarta
            MANE Ensembl match                 :: ENST00000373053.8/
                                                  ENSP00000362144.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-159               AC016542.11        155062-155220       c
            160-229             AC016542.11        12935-13004         c
            230-400             AC069548.6         117924-118094       c
            401-505             AC069548.6         116744-116848       c
            506-666             AC069548.6         108408-108568       c
            667-870             AC069548.6         105691-105894       c
            871-987             AC069548.6         92889-93005         c
            988-2937            AC069548.6         89577-91526         c
FEATURES             Location/Qualifiers
     source          1..2937
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2937
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /note="mitochondrial calcium uniporter"
                     /db_xref="GeneID:90550"
                     /db_xref="HGNC:HGNC:23526"
                     /db_xref="MIM:614197"
     exon            1..159
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..1065
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; coiled-coil domain-containing protein 109A;
                     calcium uniporter protein, mitochondrial"
                     /codon_start=1
                     /product="calcium uniporter protein, mitochondrial isoform
                     1 precursor"
                     /protein_id="NP_612366.1"
                     /db_xref="CCDS:CCDS7317.1"
                     /db_xref="GeneID:90550"
                     /db_xref="HGNC:HGNC:23526"
                     /db_xref="MIM:614197"
                     /translation="MAAAAGRSLLLLLSSRGGGGGGAGGCGALTAGCFPGLGVSRHRQ
                     QQHHRTVHQRIASWQNLGAVYCSTVVPSDDVTVVYQNGLPVISVRLPSRRERCQFTLK
                     PISDSVGVFLRQLQEEDRGIDRVAIYSPDGVRVAASTGIDLLLLDDFKLVINDLTYHV
                     RPPKRDLLSHENAATLNDVKTLVQQLYTTLCIEQHQLNKERELIERLEDLKEQLAPLE
                     KVRIEISRKAEKRTTLVLWGGLAYMATQFGILARLTWWEYSWDIMEPVTYFITYGSAM
                     AMYAYFVMTRQEYVYPEARDRQYLLFFHKGAKKSRFDLEKYNQLKDAIAQAEMDLKRL
                     RDPLQVHLPLRQIGEKD"
     exon            160..229
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /inference="alignment:Splign:2.1.0"
     exon            230..400
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /inference="alignment:Splign:2.1.0"
     exon            401..505
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /inference="alignment:Splign:2.1.0"
     exon            506..666
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /inference="alignment:Splign:2.1.0"
     exon            667..870
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /inference="alignment:Splign:2.1.0"
     exon            871..987
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /inference="alignment:Splign:2.1.0"
     exon            988..2937
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2913..2918
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /note="hexamer: AATAAA"
     polyA_site      2937
                     /gene="MCU"
                     /gene_synonym="C10orf42; CCDC109A; HsMCU"
                     /note="major polyA site"
ORIGIN      
        1 agttgagaga tggcggccgc cgcaggtaga tcgctcctgc tgctcctctc ctctcggggc
       61 ggcggcggcg ggggcgccgg cggctgcggg gcgctgactg ccggctgctt ccctgggctg
      121 ggcgtcagcc gccaccggca gcagcagcac caccggacgg tacaccagag gatcgcttcc
      181 tggcagaatt tgggagctgt ttattgcagc actgttgtgc cctctgatga tgttacagtg
      241 gtttatcaaa atgggttacc tgtgatatct gtgaggctac catcccggcg tgaacgctgt
      301 cagttcacac tcaagcctat ctctgactct gttggtgtat ttttacgaca actgcaagaa
      361 gaggatcggg gaattgacag agttgctatc tattcaccag atggtgttcg cgttgctgct
      421 tcaacaggaa tagacctcct cctccttgat gactttaagc tggtcattaa tgacttaaca
      481 taccacgtac gaccaccaaa aagagacctc ttaagtcatg aaaatgcagc aacgctgaat
      541 gatgtaaaga cattggtcca gcaactatac accacactgt gcattgagca gcaccagtta
      601 aacaaggaaa gggagcttat tgaaagacta gaggatctca aagagcagct ggctcccctg
      661 gaaaaggtac gaattgagat tagcagaaaa gctgagaaga ggaccacttt ggtgctatgg
      721 ggtggccttg cctacatggc cacacagttt ggcattttgg cccggcttac ctggtgggaa
      781 tattcctggg acatcatgga gccagtaaca tacttcatca cttatggaag tgccatggca
      841 atgtatgcat attttgtaat gacacgccag gaatatgttt atccagaagc cagagacaga
      901 caatacttac tatttttcca taaaggagcc aaaaagtcac gttttgacct agagaaatac
      961 aatcaactca aggatgcaat tgctcaggca gaaatggacc ttaagagact gagagaccca
     1021 ttacaagtac atctgcctct ccgacaaatt ggtgaaaaag attgatctgc aaaaagcctc
     1081 tgaatcctgg cagaaggaac acctgtttgc ctttttaatt aaagcattgc aggtggaagc
     1141 tgggagccat gtggggggta gagcgttttt acctttaatt ataaaacaaa aacagaaagg
     1201 atctgaggga agaagggaat gttaaaacct gaggatcagg cattgtggaa tataagctca
     1261 aagggcttag tgaatattgt cttaaccaag tatctcagtt tctggatgaa aatgatgcag
     1321 ttatatagtt gagagattca taaagagaaa acaatgctgg gggtgttcgt ttcttgcatc
     1381 ttctttgcag agtcagcaaa agagtaacac accagcaccc cactcgactc tatttgtttt
     1441 taatttaact gtccctattt ttgacatagg agtaaataaa tatactagaa aagcaaattc
     1501 tcatgatatg ctaaaatatc attagcattt attttaaatt ggacccagtc tctgcagagt
     1561 taccaggaat ctttccttcc agcatccctt tactgaccac ctacctgtac ctcttggtta
     1621 cactcatttt ttccatttga taattggaac caacttataa ctgtttaata attgacactt
     1681 tagattatct cttaatacct tcttaaatgt ctatatatcc cagtgctctg gatcagtgtc
     1741 taaaaatcac tggcaacact gcatgaggtt gttggttttg ttttgtttta ttaattagtc
     1801 tttcacagga ggaataattg ccctccttta tatacttatc tattgataat cccctctccc
     1861 tccagaacac aaatcagagg gaaagggggt gttcagctgt actaccaaat caggaagatg
     1921 taaggtttac aaattggcta agaatcatgg ctctgtagcc atttcaacca gaataatttt
     1981 attgctaatc tgctttgtgt gacagcattc caggccagcc agatgggact gccttgtctg
     2041 gaggctttgt tcatctcgaa ggacacacac ttccacactg tttgtgagcc ctcccacctc
     2101 cacaacttca gttgtaaatc aagtgtgtgg atctcaaagg gtgcaattta tctttatata
     2161 ggaatacatt tctagggctt ccttcaagcc cactctcttc accctatttt ttcttatctt
     2221 aaattgagag aaagagaatt aatcttatac tttgtcaaaa cattttctac catatttcca
     2281 gatgacatct gcgcttgaag agtcaaagga atctgtgtct aatatcctgt ttttaactgc
     2341 tgtaggggca ggatggaaag gatgatgggg gctgccacac cactgattgg ccttttcttt
     2401 cacgtgattc atccttcctc attgtggcaa ggagtttctt tctctttttc ttcctccttt
     2461 gggatcattg tgtatgaaaa gaaaaacttt aaatgacaaa cccagactcc aggtgccttg
     2521 caaaggttga aggccagcca ggattgctgc tgctgctgct actcctgcca acaccccttt
     2581 cattggcatg acggaatgaa aggatgcatg tctccacttc ctgaccctcc gcccacttcc
     2641 ttctccctcc accaccccca gtcgtcagct ccttccctca tttatttttg ttaagttgtg
     2701 tgaattattt ttaacccatt tatcctgttt gtgcataggg tttttaagaa gaaacagcac
     2761 agtgcaacga gcaaatcttt ttggggtgtg tgggaagcaa gggagggagg acatggagaa
     2821 aagttcttta aacaaatagc aaactattga acatgtgtaa aatcctgtat catttatgaa
     2881 atatgtataa aaagcaatgt accttctgga acaataaata cttattcaat ttttgaa
//
