LOCUS       NM_001195518            2357 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens mitochondrial calcium uptake 1 (MICU1), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001195518
VERSION     NM_001195518.2
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 2357)
  AUTHORS   Hasan,P., Berezhnaya,E., Rodriguez-Prados,M., Weaver,D.,
            Bekeova,C., Cartes-Saavedra,B., Birch,E., Beyer,A.M., Santos,J.H.,
            Seifert,E.L., Elrod,J.W. and Hajnoczky,G.
  TITLE     MICU1 and MICU2 control mitochondrial calcium signaling in the
            mammalian heart
  JOURNAL   Proc Natl Acad Sci U S A 121 (35), e2402491121 (2024)
   PUBMED   39163336
  REMARK    GeneRIF: MICU1 and MICU2 control mitochondrial calcium signaling in
            the mammalian heart.
REFERENCE   2  (bases 1 to 2357)
  AUTHORS   Rodriguez-Prados,M., Berezhnaya,E., Castromonte,M.T.,
            Menezes-Filho,S.L., Paillard,M. and Hajnoczky,G.
  TITLE     MICU1 occludes the mitochondrial calcium uniporter in divalent-free
            conditions
  JOURNAL   Proc Natl Acad Sci U S A 120 (19), e2218999120 (2023)
   PUBMED   37126688
REFERENCE   3  (bases 1 to 2357)
  AUTHORS   Tomar,D., Thomas,M., Garbincius,J.F., Kolmetzky,D.W., Salik,O.,
            Jadiya,P., Joseph,S.K., Carpenter,A.C., Hajnoczky,G. and Elrod,J.W.
  TITLE     MICU1 regulates mitochondrial cristae structure and function
            independently of the mitochondrial Ca2+ uniporter channel
  JOURNAL   Sci Signal 16 (782), eabi8948 (2023)
   PUBMED   37098122
REFERENCE   4  (bases 1 to 2357)
  AUTHORS   Tsai,C.W., Liu,T.Y., Chao,F.Y., Tu,Y.C., Rodriguez,M.X., Van
            Keuren,A.M., Ma,Z., Bankston,J. and Tsai,M.F.
  TITLE     Evidence supporting the MICU1 occlusion mechanism and against the
            potentiation model in the mitochondrial calcium uniporter complex
  JOURNAL   Proc Natl Acad Sci U S A 120 (16), e2217665120 (2023)
   PUBMED   37036971
REFERENCE   5  (bases 1 to 2357)
  AUTHORS   Mallilankaraman,K., Doonan,P., Cardenas,C., Chandramoorthy,H.C.,
            Muller,M., Miller,R., Hoffman,N.E., Gandhirajan,R.K., Molgo,J.,
            Birnbaum,M.J., Rothberg,B.S., Mak,D.O., Foskett,J.K. and Madesh,M.
  TITLE     MICU1 is an essential gatekeeper for MCU-mediated mitochondrial
            Ca(2+) uptake that regulates cell survival
  JOURNAL   Cell 151 (3), 630-644 (2012)
   PUBMED   23101630
  REMARK    GeneRIF: MICU1 is a gatekeeper of mitochondrial calcium
            uniporter-mediated Ca(2 )uptake that is essential to prevent [Ca(2
            )]overload and associated stress.
REFERENCE   6  (bases 1 to 2357)
  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: MICU1 physically interacts with MCU, a principal component
            of the mitochondrial calcium uniporter.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2357)
  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 2357)
  AUTHORS   Perocchi,F., Gohil,V.M., Girgis,H.S., Bao,X.R., McCombs,J.E.,
            Palmer,A.E. and Mootha,V.K.
  TITLE     MICU1 encodes a mitochondrial EF hand protein required for Ca(2+)
            uptake
  JOURNAL   Nature 467 (7313), 291-296 (2010)
   PUBMED   20693986
  REMARK    GeneRIF: MICU1 represents the founding member of a set of proteins
            required for high-capacity mitochondrial calcium uptake
            GeneRIF: MICU1 (CBARA1) is an EF-hand containing protein associated
            with the mitochondrial inner membrane.  It is required for
            mitochondrial calcium uptake in HeLa cells.
REFERENCE   9  (bases 1 to 2357)
  AUTHORS   Bordicchia,M., Battistoni,I., Mancinelli,L., Giannini,E., Refi,G.,
            Minardi,D., Muzzonigro,G., Mazzucchelli,R., Montironi,R.,
            Piscitelli,F., Petrosino,S., Dessi-Fulgheri,P., Rappelli,A., Di
            Marzo,V. and Sarzani,R.
  TITLE     Cannabinoid CB1 receptor expression in relation to visceral adipose
            depots, endocannabinoid levels, microvascular damage, and the
            presence of the Cnr1 A3813G variant in humans
  JOURNAL   Metabolism 59 (5), 734-741 (2010)
   PUBMED   19919870
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2357)
  AUTHORS   Natter,S., Seiberler,S., Hufnagl,P., Binder,B.R., Hirschl,A.M.,
            Ring,J., Abeck,D., Schmidt,T., Valent,P. and Valenta,R.
  TITLE     Isolation of cDNA clones coding for IgE autoantigens with serum IgE
            from atopic dermatitis patients
  JOURNAL   FASEB J 12 (14), 1559-1569 (1998)
   PUBMED   9806765
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK023318.1, AL513185.12 and
            AC091769.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001195518.1.
            
            Summary: This gene encodes an essential regulator of mitochondrial
            Ca2+ uptake under basal conditions. The encoded protein interacts
            with the mitochondrial calcium uniporter, a mitochondrial inner
            membrane Ca2+ channel, and is essential in preventing mitochondrial
            Ca2+ overload, which can cause excessive production of reactive
            oxygen species and cell stress. Alternatively spliced transcript
            variants encoding different isoforms have been described. [provided
            by RefSeq, Mar 2013].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region compared to variant 1. The encoded
            protein (isoform 2) is shorter compared to isoform 1.
            
            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 :: BC004216.2, AK225298.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000361114.10/
                                                  ENSP00000354415.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-627               AK023318.1         32-658
            628-628             AL513185.12        8916-8916           c
            629-1601            AK023318.1         660-1632
            1602-2357           AC091769.6         123753-124508
FEATURES             Location/Qualifiers
     source          1..2357
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2357
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /note="mitochondrial calcium uptake 1"
                     /db_xref="GeneID:10367"
                     /db_xref="HGNC:HGNC:1530"
                     /db_xref="MIM:605084"
     exon            1..70
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     exon            71..232
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..1502
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /note="isoform 2 is encoded by transcript variant 2;
                     calcium uptake protein 1, mitochondrial; calcium-binding
                     atopy-related autoantigen 1; atopy-related autoantigen
                     CALC"
                     /codon_start=1
                     /product="calcium uptake protein 1, mitochondrial isoform
                     2"
                     /protein_id="NP_001182447.1"
                     /db_xref="CCDS:CCDS55715.1"
                     /db_xref="GeneID:10367"
                     /db_xref="HGNC:HGNC:1530"
                     /db_xref="MIM:605084"
                     /translation="MFRLNSLSALAELAVGSRWYHGGSQPIQIRRRLMMVAFLGASAV
                     TASTGLLWKRAHAESPPCVDNLKSDIGDKGKNKDEGDVCNHEKKTADLAPHPEEKKKK
                     RSGFRDRKVMEYENRIRAYSTPDKIFRYFATLKVISEPGEAEVFMTPEDFVRSITPNE
                     KQPEHLGLDQYIIKRFDGKKISQEREKFADEGSIFYTLGECGLISFSDYIFLTTVLST
                     PQRNFEIAFKMFDLNGDGEVDMEEFEQVQSIIRSQTSMGMRHRDRPTTGNTLKSGLCS
                     ALTTYFFGADLKGKLTIKNFLEFQRKLQHDVLKLEFERHDPVDGRITERQFGGMLLAY
                     SGVQSKKLTAMQRQLKKHFKEGKGLTFQEVENFFTFLKNINDVDTALSFYHMAGASLD
                     KVTMQQVARTVAKVELSDHVCDVVFALFDCDGNGELSNKEFVSIMKQRLMRGLEKPKD
                     MGFTRLMQAMWKCAQETAWDFALPKQ"
     exon            233..401
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     exon            402..564
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     exon            565..608
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     exon            609..723
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     exon            724..806
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     exon            807..1004
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1142
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1251
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1341
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..2357
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2339..2344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /note="hexamer: AATAAA"
     polyA_site      2357
                     /gene="MICU1"
                     /gene_synonym="ara CALC; CALC; CBARA1; EFHA3; MPXPS"
                     /note="major polyA site"
ORIGIN      
        1 gtttcatctc tatggctgtc agaggtgggc ggctttgacc gagaggctgc tggagctcgt
       61 gtttggacgc gatgtttcgt ctgaactcac tttctgcttt ggcagaactg gctgtgggtt
      121 ctcgatggta ccatggagga tcacagccca tccagatccg gcgaagacta atgatggtgg
      181 ctttcctggg agcatctgca gtaactgcaa gtactggtct tttgtggaag agggcccatg
      241 cagaatctcc accatgtgta gacaacctaa aaagtgacat cggtgataaa gggaagaata
      301 aagatgaagg ggatgtttgt aaccatgaga aaaagactgc agatcttgcc cctcacccag
      361 aagagaaaaa gaagaaacgt tctggattca gagacagaaa agtgatggaa tatgagaata
      421 ggattcgagc ctactccacg ccagacaaaa tcttccgata ttttgccacc ttgaaagtca
      481 tcagtgagcc tggtgaagca gaagtgttta tgacaccaga agattttgtg cgatccataa
      541 cacccaatga aaaacaacca gaacacttgg gtctggatca atatataata aaacgctttg
      601 atggaaagaa aatttcccag gaacgagaaa aatttgctga tgaaggcagt atattttaca
      661 cccttggaga atgtgggctc atatcctttt cagactacat tttcctcaca actgttcttt
      721 ccactcctca gagaaatttt gaaattgcct tcaagatgtt tgatttgaat ggagatggag
      781 aagtagatat ggaagaattt gaacaggttc agagcatcat tcgctcccaa accagtatgg
      841 gtatgcgcca cagagatcgt ccaactactg gcaacaccct caagtctggc ttgtgttcag
      901 ccctcacaac ctactttttt ggagctgatc tgaagggaaa gctgacaatc aaaaacttcc
      961 tcgaatttca gcgtaaactg cagcatgatg ttctgaagct tgagtttgaa cgccatgacc
     1021 ctgtggatgg gagaattact gagaggcagt ttggtggcat gctacttgcc tacagtgggg
     1081 tgcagtccaa gaagctgacc gccatgcaga ggcagctcaa gaagcacttc aaagaaggaa
     1141 agggtctgac atttcaggag gtggagaact tctttacttt cctaaagaac attaatgatg
     1201 tggacactgc attgagtttt taccatatgg ctggagcatc tcttgataaa gtgaccatgc
     1261 agcaggtggc caggacagtg gctaaagtgg agctctcaga ccacgtgtgt gatgtggtgt
     1321 ttgcactctt tgactgtgat ggcaatggcg aactgagcaa taaggaattt gtttccatca
     1381 tgaagcaacg gctgatgaga ggcctggaaa agcccaaaga catgggtttc actcgcctca
     1441 tgcaggccat gtggaaatgt gcacaggaaa ctgcctggga cttcgcttta cccaaacagt
     1501 aaccccacac tgcaagaggg gacccctcca cccccagtac cctggacccc ctccgcagag
     1561 tctcggcaga gccctttgtg ctgctgcttc tggaagtagt cccccttcct cccgggatga
     1621 cctcaggact ctgtcggttt cccctcttta cccttccccg tccccgtgtt ctgctgggct
     1681 ctgattctgc ccaatgagta tccccatagg ttctcaaaaa catgaacaag tctgtaaagc
     1741 tcagacattt gtcagcctca acagcaccac ccattcaagc atcctgtgga taaagaattc
     1801 agggaaccat ccacacacct gccaaccctg ggaagcatcc agttctcaaa tcgtttttgc
     1861 tatggattta tactaacaag aacattcctt gacttccctc ctgctggtgt tttaaagcca
     1921 caagtaggga agatatctgg caggcagaaa gaagtctgtg atgataaaca atgatgagga
     1981 tgacctaggc accctacgct agtgtgagaa gcctgcgccc caggaaggat ctgtgttagt
     2041 ccctgggatg gctccaaggc ctgctctagg aaggcagcat gctcagtggg aacacagcaa
     2101 gattcagaat ttaaagtagt tgcttcatgg ctctgtgcac tcccttttct tcctcgcagc
     2161 ctccctaaga tgactccagt gtgaccctgt gcttagtgag caatagtgat tgagctcatg
     2221 ttccctgcaa gtgccatttc ctctccagga tgggcctcta aagctgaggc ctggctcaga
     2281 gcctgtttgc cctctgtctt aaacaattgt aaatatcact taaattataa ccatttgcaa
     2341 taaacatccc caaagtt
//
