LOCUS       NM_181723               3990 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial calcium uptake family member 3 (MICU3),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_181723
VERSION     NM_181723.3
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 3990)
  AUTHORS   Roman,B., Mastoor,Y., Sun,J., Chapoy Villanueva,H., Hinojosa,G.,
            Springer,D., Liu,J.C. and Murphy,E.
  TITLE     MICU3 Regulates Mitochondrial Calcium and Cardiac Hypertrophy
  JOURNAL   Circ Res 135 (1), 26-40 (2024)
   PUBMED   38747181
  REMARK    GeneRIF: MICU3 Regulates Mitochondrial Calcium and Cardiac
            Hypertrophy.
REFERENCE   2  (bases 1 to 3990)
  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   3  (bases 1 to 3990)
  AUTHORS   Ashrafi,G., de Juan-Sanz,J., Farrell,R.J. and Ryan,T.A.
  TITLE     Molecular Tuning of the Axonal Mitochondrial Ca2+ Uniporter Ensures
            Metabolic Flexibility of Neurotransmission
  JOURNAL   Neuron 105 (4), 678-687 (2020)
   PUBMED   31862210
REFERENCE   4  (bases 1 to 3990)
  AUTHORS   Xing,Y., Wang,M., Wang,J., Nie,Z., Wu,G., Yang,X. and Shen,Y.
  TITLE     Dimerization of MICU Proteins Controls Ca2+ Influx through the
            Mitochondrial Ca2+ Uniporter
  JOURNAL   Cell Rep 26 (5), 1203-1212 (2019)
   PUBMED   30699349
  REMARK    GeneRIF: multiple crystal structures of MICU2 and MICU3 from Homo
            sapiens, were determined.
REFERENCE   5  (bases 1 to 3990)
  AUTHORS   Patron,M., Granatiero,V., Espino,J., Rizzuto,R. and De Stefani,D.
  TITLE     MICU3 is a tissue-specific enhancer of mitochondrial calcium uptake
  JOURNAL   Cell Death Differ 26 (1), 179-195 (2019)
   PUBMED   29725115
REFERENCE   6  (bases 1 to 3990)
  AUTHORS   Plovanich,M., Bogorad,R.L., Sancak,Y., Kamer,K.J., Strittmatter,L.,
            Li,A.A., Girgis,H.S., Kuchimanchi,S., De Groot,J., Speciner,L.,
            Taneja,N., Oshea,J., Koteliansky,V. and Mootha,V.K.
  TITLE     MICU2, a paralog of MICU1, resides within the mitochondrial
            uniporter complex to regulate calcium handling
  JOURNAL   PLoS One 8 (2), e55785 (2013)
   PUBMED   23409044
REFERENCE   7  (bases 1 to 3990)
  AUTHORS   Edwards,A.C., Aliev,F., Bierut,L.J., Bucholz,K.K., Edenberg,H.,
            Hesselbrock,V., Kramer,J., Kuperman,S., Nurnberger,J.I. Jr.,
            Schuckit,M.A., Porjesz,B. and Dick,D.M.
  TITLE     Genome-wide association study of comorbid depressive syndrome and
            alcohol dependence
  JOURNAL   Psychiatr Genet 22 (1), 31-41 (2012)
   PUBMED   22064162
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI546243.1, BC045553.1, BX953026.1, DB548272.1 and AC079193.10.
            
            On Nov 23, 2018 this sequence version replaced NM_181723.2.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.257112.1, BC045553.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000318063.10/
                                                  ENSP00000321455.5
            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                 BI546243.1         6-6
            2-1838              BC045553.1         1-1837
            1839-1839           BX953026.1         99-99
            1840-3982           BC045553.1         1839-3981
            3983-3987           DB548272.1         425-429
            3988-3990           AC079193.10        106683-106685
FEATURES             Location/Qualifiers
     source          1..3990
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     gene            1..3990
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /note="mitochondrial calcium uptake family member 3"
                     /db_xref="GeneID:286097"
                     /db_xref="HGNC:HGNC:27820"
                     /db_xref="MIM:610633"
     exon            1..423
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1635
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /note="isoform 1 is encoded by transcript variant 1; EF
                     hand domain family A2; EF-hand domain-containing family
                     member A2; EF-hand domain family, member A2; mitochondrial
                     uptake family, member 3; calcium uptake protein 3,
                     mitochondrial"
                     /codon_start=1
                     /product="calcium uptake protein 3, mitochondrial isoform
                     1"
                     /protein_id="NP_859074.1"
                     /db_xref="CCDS:CCDS5999.1"
                     /db_xref="GeneID:286097"
                     /db_xref="HGNC:HGNC:27820"
                     /db_xref="MIM:610633"
                     /translation="MAALRRLLWPPPRVSPPLCAHQPLLGPWGRPAVTTLGLPGRPFS
                     SREDEERAVAEAAWRRRRRWGELSVAAAAGGGLVGLVCYQLYGDPRAGSPATGRPSKS
                     AATEPEDPPRGRGMLPIPVAAAKETVAIGRTDIEDLDLYATSRERRFRLFASIECEGQ
                     LFMTPYDFILAVTTDEPKVAKTWKSLSKQELNQMLAETPPVWKGSSKLFRNLKEKGVI
                     SYTEYLFLLCILTKPHAGFRIAFNMFDTDGNEMVDKKEFLVLQEIFRKKNEKREIKGD
                     EEKRAMLRLQLYGYHSPTNSVLKTDAEELVSRSYWDTLRRNTSQALFSDLAERADDIT
                     SLVTDTTLLVHFFGKKGKAELNFEDFYRFMDNLQTEVLEIEFLSYSNGMNTISEEDFA
                     HILLRYTNVENTSVFLENVRYSIPEEKGITFDEFRSFFQFLNNLEDFAIALNMYNFAS
                     RSIGQDEFKRAVYVATGLKFSPHLVNTVFKIFDVDKDDQLSYKEFIGIMKDRLHRGFR
                     GYKTVQKYPTFKSCLKKELHSR"
     exon            424..577
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            578..609
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            610..688
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            689..736
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            737..819
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            820..891
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            892..930
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1026
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1127
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1299
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1408
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..1566
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            1567..1635
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..3990
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3961..3966
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /note="hexamer: AATAAA"
     polyA_site      3990
                     /gene="MICU3"
                     /gene_synonym="EFHA2; hMICU3"
                     /note="major polyA site"
ORIGIN      
        1 gttctctgcc ccctcccagc tctggtgtgg gcggcctccg ctatggctgc gctgcgaagg
       61 ctcttgtggc cgccaccccg ggtgtctcct ccactctgcg ctcaccagcc cctccttggg
      121 ccgtgggggc ggcctgcggt gaccaccctg ggccttcctg gccggccctt ctcctcccga
      181 gaggatgagg agagggctgt ggcggaggcg gcatggaggc ggcggcggcg ctggggggag
      241 ctgagcgtgg cggcggcggc cggcgggggg ctggtcggcc tggtatgcta ccagctgtac
      301 ggggacccca gggccggctc gccggcgacc gggcgaccct caaagagcgc ggccacggag
      361 cccgaggacc cgccccgcgg ccgggggatg ctgcccatcc cagtggcggc tgccaaggag
      421 acggttgcta ttggcagaac agacattgaa gacttagacc tttatgccac atctcgggag
      481 aggcgatttc gtttatttgc ttctatagaa tgtgaagggc agttattcat gactccgtat
      541 gattttattt tggctgttac aacagatgag cccaaagttg ccaaaacttg gaagtcactt
      601 tccaaacagg aattaaatca aatgctcgca gaaacaccac cagtttggaa aggctcatcg
      661 aagctatttc gaaatcttaa agaaaaaggt gtgatttctt acacagaata tctttttctt
      721 ttatgtattt taacaaagcc acatgcaggg ttcagaatag ctttcaacat gtttgacact
      781 gatggcaatg agatggtgga taaaaaagag tttttggtgc ttcaagagat attcaggaaa
      841 aaaaatgaaa agagagaaat taaaggagat gaagaaaagc gtgcaatgct gcgtcttcaa
      901 ctttatggat accattctcc tactaatagt gtacttaaaa cagatgctga ggaacttgtc
      961 tccagaagct attgggatac actgagacgt aacacaagcc aagcactgtt ttcagacctc
     1021 gcagagcgtg ctgatgacat cacaagttta gtaacagata ctacacttct tgtacacttt
     1081 tttggaaaga aaggaaaagc tgagctcaac tttgaagatt tttatagatt catggataat
     1141 ctccaaacag aagttctaga aatagaattc ctttcctact caaatggaat gaataccatc
     1201 agtgaagaag attttgctca tattctttta cgatatacaa atgtggaaaa tacatcagta
     1261 tttttagaaa atgtgcgtta cagtatacct gaagaaaagg gcatcacatt tgatgaattc
     1321 aggtcatttt tccagttttt aaacaaccta gaagactttg caatagccct gaatatgtat
     1381 aactttgcaa gtcgttctat agggcaagat gaatttaaac gtgccgtcta tgtagctact
     1441 ggactcaaat tttcaccaca tttagtgaac actgtcttca agatttttga tgttgacaaa
     1501 gatgatcaat taagttataa agaatttatt ggaattatga aagacagact ccatagagga
     1561 ttccggggtt ataaaacagt ccagaagtac cccactttca aatcctgcct gaagaaagaa
     1621 cttcacagca gataaatact cctaaaacaa agtttaaagg attactatct gtgtgacaaa
     1681 taacaagaag caacattttg agaatggaag caggtctgag gtcagaagaa gtagagaatg
     1741 aaggaaaagg tgaatgctat gaaattgata ttttttctgg aactgaattc ttaaacataa
     1801 aacagataaa atgcatcttg ttactacaaa tgttatatat ataaaatcaa gttgagcttt
     1861 gccttgattt gctgaactct ctgcactttt tcattccctt cagaagtata tagatacttc
     1921 cggtgactac atatgaatgt actttcaata ttattttttt atttattcat tagaaatttt
     1981 cctcatttca aaataattta tgactcatgg aatgttgatc gcctaaaaat gaacatcgca
     2041 ttttctttga ttttggactg tgaacttatt ttcagagatg aatattgctt gagatttata
     2101 atacccttag aattaaattc ctgttatttg cccagttttt aattacactg agataatttt
     2161 gaaaagaaat agaaattaag ctactatata aaacaattgt ttacgtgtac ttttaacttt
     2221 taaaagtact taattaacat atgttgtttg acttgtataa agtttttaaa aattgttgtt
     2281 tatttgccaa agtcaacaga atgtctgtta ttgttttatg tatacggtaa agaaatttaa
     2341 agtgtagaat tttcctcccc caaaaagtca tgtgttgata gtagaagcag tggtagttgt
     2401 tgtaacagta atcattgtca ttgtcattat cttcttaaac atgaagctgc tcctgatcat
     2461 aggtggtaca cgttaataac actagtaaaa ataacgtctt acactctgta acttactgca
     2521 tattgttaat gtatgtctag catcaaatga gtattgtaaa agactaatat aaaatggttt
     2581 ataagactga tgtatatatt aagtagaagc taatattttt gtttcttgca aaaggaccac
     2641 ttgaaaagtg atgctaaaca gccagtaata ataatttaaa tataatttat tatttcaaaa
     2701 gaatatgtct taaaagggaa aataaaaact ttctgttgaa tcacaacaaa attagatttg
     2761 tacatagaga aacaatttga taatacttaa tagaaatctg ttcaattaaa aatgcttagt
     2821 ttatacaaag atactacaca aaaatagaac aattagtctg aattaacgta tttacatatt
     2881 gcatatggaa gataagttca tttatcttcc tttctaagac atatttaatg taggttacat
     2941 acactccaac tattactttg cttttgcata tgaaactaga aaacactgac tttgttttta
     3001 taagttatta aatgtgaaat tgatctgcat cagcttattt ataaaagtaa tgttatttcc
     3061 aagaaaatgt tactcttagc attgattttg tatgttagac tttttacatt gtttatctaa
     3121 tattatttat gacagtaatt ttaaaatata ttattcataa gttcaaggat cccatatagt
     3181 ataagaatat aatttcactt gctttgaaag ttgatttaat tgactgacta aatgaaaatg
     3241 cctacccact catataacat acctcaggtc tattttacct tacactgaat gttcttaata
     3301 tgatttggta cctaaagtaa ttgaaaaaaa tgcagtttcc tttaatcctt gactataagt
     3361 tatactatgt tgcgtacatg gcaaatcctg caaatataga ttaaaaatta aattagccca
     3421 ttgaaatcct ttataattct gtcattttcc caaggaagaa tagcattgta catatgcaat
     3481 ctttatttta ttctttattg cttatcagag tgagtggatg aaaacatttg taaggctgca
     3541 acataatatt aaaatgtgaa taaataaatg ttctgataaa atagaaaaga aagtaaatta
     3601 cagtgatttc catcatatta tcactcttga attttatcat ctataaaatg agagataaaa
     3661 atatctcact gaattgttac ttatatcaat ttaaaatttg ctagtggttt gaaaataata
     3721 atgtactgac tacatgtatg ctgttattgt cagtgtttcc ttctataaac tgttctttgg
     3781 aaaaattaag ttatacataa aattcatatt aaacttttta cagaaagcat acatgataaa
     3841 cagtttatgg tacttctcag aatcatttca taataagcaa tttatttagc ttaagttcca
     3901 acttactgtt cttattataa attgcaaagc aacctgtctt acattcttac attatcttaa
     3961 aataaatatt tctgcccttg aatcaagaaa
//
