LOCUS       NM_033318               1562 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens single-pass membrane protein with aspartate rich tail
            1 (SMDT1), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_033318 XR_017894
VERSION     NM_033318.5
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 1562)
  AUTHORS   Bulthuis,E.P., Adjobo-Hermans,M.J.W., de Potter,B., Hoogstraten,S.,
            Wezendonk,L.H.T., Tutakhel,O.A.Z., Wintjes,L.T., van den Heuvel,B.,
            Willems,P.H.G.M., Kamsteeg,E.J., Gozalbo,M.E.R.,
            Sallevelt,S.C.E.H., Koudijs,S.M., Nicolai,J., de Bie,C.I.,
            Hoogendijk,J.E., Koopman,W.J.H. and Rodenburg,R.J.
  TITLE     SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in
            patients with muscle involvement
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1869 (8), 166808 (2023)
   PUBMED   37454773
  REMARK    GeneRIF: SMDT1 variants impair EMRE-mediated mitochondrial calcium
            uptake in patients with muscle involvement.
REFERENCE   2  (bases 1 to 1562)
  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 1562)
  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   4  (bases 1 to 1562)
  AUTHORS   Zhuo,W., Zhou,H., Guo,R., Yi,J., Zhang,L., Yu,L., Sui,Y., Zeng,W.,
            Wang,P. and Yang,M.
  TITLE     Structure of intact human MCU supercomplex with the auxiliary MICU
            subunits
  JOURNAL   Protein Cell 12 (3), 220-229 (2021)
   PUBMED   32862359
REFERENCE   5  (bases 1 to 1562)
  AUTHORS   Van Keuren,A.M., Tsai,C.W., Balderas,E., Rodriguez,M.X.,
            Chaudhuri,D. and Tsai,M.F.
  TITLE     Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial
            Calcium Uniporter Complex
  JOURNAL   Cell Rep 33 (10), 108486 (2020)
   PUBMED   33296646
  REMARK    GeneRIF: Mechanisms of EMRE-Dependent MCU Opening in the
            Mitochondrial Calcium Uniporter Complex.
REFERENCE   6  (bases 1 to 1562)
  AUTHORS   Tsai,M.F., Phillips,C.B., Ranaghan,M., Tsai,C.W., Wu,Y.,
            Willliams,C. and Miller,C.
  TITLE     Dual functions of a small regulatory subunit in the mitochondrial
            calcium uniporter complex
  JOURNAL   Elife 5, e15545 (2016)
   PUBMED   27099988
  REMARK    GeneRIF: Here, the authors determine the transmembrane orientation
            of EMRE, and show that its known MCU-activating function is
            mediated by the interaction of transmembrane helices from both
            proteins.
            Erratum:[Elife. 2017 Mar 02;6:e26228. doi: 10.7554/eLife.26228..
            PMID: 28253172]
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1562)
  AUTHORS   Vais,H., Mallilankaraman,K., Mak,D.D., Hoff,H., Payne,R.,
            Tanis,J.E. and Foskett,J.K.
  TITLE     EMRE Is a Matrix Ca(2+) Sensor that Governs Gatekeeping of the
            Mitochondrial Ca(2+) Uniporter
  JOURNAL   Cell Rep 14 (3), 403-410 (2016)
   PUBMED   26774479
REFERENCE   8  (bases 1 to 1562)
  AUTHORS   Waldeck-Weiermair,M., Malli,R., Parichatikanond,W., Gottschalk,B.,
            Madreiter-Sokolowski,C.T., Klec,C., Rost,R. and Graier,W.F.
  TITLE     Rearrangement of MICU1 multimers for activation of MCU is solely
            controlled by cytosolic Ca(2.)
  JOURNAL   Sci Rep 5, 15602 (2015)
   PUBMED   26489515
  REMARK    GeneRIF: Our experiments provide novel details about how MCU/EMRE
            is regulated by MICU1 and an original approach to investigate
            MCU/EMRE activation in intact cells.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1562)
  AUTHORS   Wang,L., Yang,X., Li,S., Wang,Z., Liu,Y., Feng,J., Zhu,Y. and
            Shen,Y.
  TITLE     Structural and mechanistic insights into MICU1 regulation of
            mitochondrial calcium uptake
  JOURNAL   EMBO J 33 (6), 594-604 (2014)
   PUBMED   24514027
REFERENCE   10 (bases 1 to 1562)
  AUTHORS   Sancak,Y., Markhard,A.L., Kitami,T., Kovacs-Bogdan,E., Kamer,K.J.,
            Udeshi,N.D., Carr,S.A., Chaudhuri,D., Clapham,D.E., Li,A.A.,
            Calvo,S.E., Goldberger,O. and Mootha,V.K.
  TITLE     EMRE is an essential component of the mitochondrial calcium
            uniporter complex
  JOURNAL   Science 342 (6164), 1379-1382 (2013)
   PUBMED   24231807
  REMARK    GeneRIF: EMRE is essential for in vivo uniporter current and
            additionally bridges the calcium-sensing role of MICU1 and MICU2
            with the calcium-conducting role of MCU.
            GeneRIF: EMRE (C22orf32) is an integral mitochondrial inner
            membrane protein and component of the mitochondrial uniporter
            complex (uniplex).  It is essential for uniporter channel activity.
            In its absence, the pore does not interact with its regulators
            MICU1/2.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI754670.1, Z82192.1,
            AL021878.4 and BC024237.2.
            
            On May 17, 2019 this sequence version replaced NM_033318.4.
            
            Summary: This gene encodes a core regulatory component of a calcium
            channel in the mitochondrial inner membrane. [provided by RefSeq,
            Apr 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the 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 :: SRR3476690.789904.1, BC024237.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331479.4/ ENSP00000327467.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                BI754670.1         10-28
            20-255              Z82192.1           2164-2399
            256-390             Z82192.1           4370-4504
            391-396             AL021878.4         101-106
            397-1164            AL021878.4         1160-1927
            1165-1562           BC024237.2         1170-1567
FEATURES             Location/Qualifiers
     source          1..1562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..1562
                     /gene="SMDT1"
                     /gene_synonym="C22orf32; DDDD; EMRE"
                     /note="single-pass membrane protein with aspartate rich
                     tail 1"
                     /db_xref="GeneID:91689"
                     /db_xref="HGNC:HGNC:25055"
                     /db_xref="MIM:615588"
     exon            1..255
                     /gene="SMDT1"
                     /gene_synonym="C22orf32; DDDD; EMRE"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..393
                     /gene="SMDT1"
                     /gene_synonym="C22orf32; DDDD; EMRE"
                     /note="UPF0466 protein C22orf32, mitochondrial;
                     single-pass membrane protein with aspartate-rich tail 1,
                     mitochondrial; essential MCU regulator, mitochondrial"
                     /codon_start=1
                     /product="essential MCU regulator, mitochondrial
                     precursor"
                     /protein_id="NP_201575.3"
                     /db_xref="CCDS:CCDS14031.1"
                     /db_xref="GeneID:91689"
                     /db_xref="HGNC:HGNC:25055"
                     /db_xref="MIM:615588"
                     /translation="MASGAARWLVLAPVRSGALRSGPSLRKDGDVSAAWSGSGRSLVP
                     SRSVIVTRSGAILPKPVKMSFGLLRVFSIVIPFLYVGTLISKNFAALLEEHDIFVPED
                     DDDDD"
     exon            256..396
                     /gene="SMDT1"
                     /gene_synonym="C22orf32; DDDD; EMRE"
                     /inference="alignment:Splign:2.1.0"
     exon            397..1562
                     /gene="SMDT1"
                     /gene_synonym="C22orf32; DDDD; EMRE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      612..617
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMDT1"
                     /gene_synonym="C22orf32; DDDD; EMRE"
                     /note="hexamer: AATAAA"
     polyA_site      631
                     /gene="SMDT1"
                     /gene_synonym="C22orf32; DDDD; EMRE"
                     /note="major polyA site"
     regulatory      1545..1550
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMDT1"
                     /gene_synonym="C22orf32; DDDD; EMRE"
                     /note="hexamer: AATAAA"
     polyA_site      1562
                     /gene="SMDT1"
                     /gene_synonym="C22orf32; DDDD; EMRE"
ORIGIN      
        1 cttcccgagg gcggcacgag ggctgggcgg tggggtgcgg gtgcccgggt gaggggcgga
       61 gctgggggca tggcgtccgg agcggctcgc tggctagtat tggcacccgt caggtccggg
      121 gctctccgga gcgggcctag cttgaggaaa gatggcgatg tctccgccgc atggagcggc
      181 tcaggccgga gcctggtacc gtcgaggtca gtcatcgtta cccgcagcgg cgccattttg
      241 cccaaaccgg tgaaaatgtc cttcggcctt ctccgtgtgt tctccattgt gatccccttt
      301 ctctatgtcg ggacactcat tagcaagaac tttgctgctc tacttgagga acatgacatt
      361 tttgttccag aggatgatga tgatgatgac taacaggaat tacagaaagg agaaagcact
      421 aactgaagaa atggtgatgc tctcagtttc tctgccttcc ctatcagcag aaaggctcgg
      481 ggaaggccct cagcctccca gtctggtgaa gcttcctgta tggtccatga ccgtattcca
      541 ccccaggctc tgggaggctc cctgagatgt gctgtccact aagcactgca caaacaagca
      601 atcaaattat gaataaacat aataaatatc agccgtgcgt gactgagtga tggctgcagt
      661 ttctcagtat ccctaggttc tagttggtgc agttgtctct gctgtccttt atttatggga
      721 gaaacatagg cccaggctat ccaggctgca gtggagcctg gtgaactatt ctgggggccc
      781 tgggaactat tttcattgtt tacaaaagcc caacagaaac tgtgcatttt cccttaagaa
      841 agcttcatgg gctaactaaa gcctcatgcc attctgtgtt cagtgccagt catgacagct
      901 ctgcttgtta gcatactact taaatataac tagaatgatt caaaactcgg gttctgtgat
      961 atgaggatat agataggttt tcatctattt cctggcttat aactcccaaa acccttgttt
     1021 taggcttttg ttataatgtt gggcacttcg ggcctcagaa aacagcaggc tgtttctcag
     1081 atcttctcct gacctccttt cacctgctgc tttttctccc caaggcaggc catagaaact
     1141 aaaagtataa tcttcctttg cccgtcttcc agttggccat aaaaagaatc ctctgaccta
     1201 ccttgtctga ttttaggtca tgagaccccc atttcagaag ggattctgcc ccatacctga
     1261 gaggaagaaa tgtagacagg ccttgttgga cttccccact ccatctgtat tagattatgc
     1321 ctcttttgtc caatcccatt tctccagtgt tgtccatgct tcaatcatcc ctatccaatg
     1381 aggtctccat aaaaggccca agaagacagg tttagagagc tttcggagaa cagaacactt
     1441 ggctttgcaa agtggcacgc ctggagagaa cttggaagct ccacgcccct tctatacctc
     1501 accctatgca tctcttcagc tgtatctttt gtgatatcct ttataataaa ccagtaaacg
     1561 ga
//
