LOCUS       NM_001031713            5460 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens mitochondrial calcium uniporter regulator 1 (MCUR1),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001031713 XR_108677
VERSION     NM_001031713.4
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 5460)
  AUTHORS   Fan,L., Yang,H., Zhang,B. and Ding,H.
  TITLE     MCUR1 is a prognostic biomarker for ovarian cancer patients
  JOURNAL   Cancer Biomark 33 (3), 311-316 (2022)
   PUBMED   34459387
  REMARK    GeneRIF: MCUR1 is a prognostic biomarker for ovarian cancer
            patients.
REFERENCE   2  (bases 1 to 5460)
  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 5460)
  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 5460)
  AUTHORS   Zulkifli,M., Neff,J.K., Timbalia,S.A., Garza,N.M., Chen,Y.,
            Watrous,J.D., Murgia,M., Trivedi,P.P., Anderson,S.K., Tomar,D.,
            Nilsson,R., Madesh,M., Jain,M. and Gohil,V.M.
  TITLE     Yeast homologs of human MCUR1 regulate mitochondrial proline
            metabolism
  JOURNAL   Nat Commun 11 (1), 4866 (2020)
   PUBMED   32978391
  REMARK    GeneRIF: Yeast homologs of human MCUR1 regulate mitochondrial
            proline metabolism.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5460)
  AUTHORS   Jin,M., Wang,J., Ji,X., Cao,H., Zhu,J., Chen,Y., Yang,J., Zhao,Z.,
            Ren,T. and Xing,J.
  TITLE     MCUR1 facilitates epithelial-mesenchymal transition and metastasis
            via the mitochondrial calcium dependent ROS/Nrf2/Notch pathway in
            hepatocellular carcinoma
  JOURNAL   J Exp Clin Cancer Res 38 (1), 136 (2019)
   PUBMED   30909929
  REMARK    GeneRIF: Results found MCUR1 expression significantly higher in HCC
            with metastasis and associated with tumor progression. The
            essential role of MCUR1 in promoting epithelial-mesenchymal
            transition, invasion and migration was found through the activation
            of ROS/Nrf2/Notch signaling by inducing mitochondrial Ca2+ uptake.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5460)
  AUTHORS   Chaudhuri,D., Artiga,D.J., Abiria,S.A. and Clapham,D.E.
  TITLE     Mitochondrial calcium uniporter regulator 1 (MCUR1) regulates the
            calcium threshold for the mitochondrial permeability transition
  JOURNAL   Proc Natl Acad Sci U S A 113 (13), E1872-E1880 (2016)
   PUBMED   26976564
  REMARK    GeneRIF: MCUR1 regulates the calcium threshold for the
            mitochondrial permeability transition.
REFERENCE   7  (bases 1 to 5460)
  AUTHORS   Vais,H., Tanis,J.E., Muller,M., Payne,R., Mallilankaraman,K. and
            Foskett,J.K.
  TITLE     MCUR1, CCDC90A, Is a Regulator of the Mitochondrial Calcium
            Uniporter
  JOURNAL   Cell Metab 22 (4), 533-535 (2015)
   PUBMED   26445506
REFERENCE   8  (bases 1 to 5460)
  AUTHORS   Paupe,V., Prudent,J., Dassa,E.P., Rendon,O.Z. and Shoubridge,E.A.
  TITLE     CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a
            regulator of the mitochondrial calcium uniporter
  JOURNAL   Cell Metab 21 (1), 109-116 (2015)
   PUBMED   25565209
  REMARK    GeneRIF: CCDC90A is not directly implicated in MCU function, and
            that the Ca2+ uptake defect associated with loss of CCDC90A
            function is likely secondary to the respiratory chain deficiency.
REFERENCE   9  (bases 1 to 5460)
  AUTHORS   Mallilankaraman,K., Cardenas,C., Doonan,P.J., Chandramoorthy,H.C.,
            Irrinki,K.M., Golenar,T., Csordas,G., Madireddi,P., Yang,J.,
            Muller,M., Miller,R., Kolesar,J.E., Molgo,J., Kaufman,B.,
            Hajnoczky,G., Foskett,J.K. and Madesh,M.
  TITLE     MCUR1 is an essential component of mitochondrial Ca2+ uptake that
            regulates cellular metabolism
  JOURNAL   Nat Cell Biol 14 (12), 1336-1343 (2012)
   PUBMED   23178883
  REMARK    Erratum:[Nat Cell Biol. 2013 Jan;15(1):123]
REFERENCE   10 (bases 1 to 5460)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL023583.25.
            
            On Mar 30, 2021 this sequence version replaced NM_001031713.3.
            
            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 :: SRR11853567.25322.1,
                                           SRR11853563.27808.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000379170.9/
                                                  ENSP00000368468.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-543               AL023583.25        55708-56250         c
            544-663             AL023583.25        48618-48737         c
            664-767             AL023583.25        43936-44039         c
            768-869             AL023583.25        42981-43082         c
            870-911             AL023583.25        42034-42075         c
            912-983             AL023583.25        40526-40597         c
            984-1037            AL023583.25        35587-35640         c
            1038-1152           AL023583.25        33571-33685         c
            1153-5460           AL023583.25        28250-32557         c
FEATURES             Location/Qualifiers
     source          1..5460
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p23"
     gene            1..5460
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="mitochondrial calcium uniporter regulator 1"
                     /db_xref="GeneID:63933"
                     /db_xref="HGNC:HGNC:21097"
                     /db_xref="MIM:616952"
     exon            1..543
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /inference="alignment:Splign:2.1.0"
     CDS             129..1208
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /EC_number="1.1.1.41"
                     /note="coiled-coil domain-containing protein 90A,
                     mitochondrial; coiled-coil domain containing 90A; MCU
                     regulator 1; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="mitochondrial calcium uniporter regulator 1"
                     /protein_id="NP_001026883.1"
                     /db_xref="CCDS:CCDS35495.1"
                     /db_xref="GeneID:63933"
                     /db_xref="HGNC:HGNC:21097"
                     /db_xref="MIM:616952"
                     /translation="MDCGSVGGQRTQRLPGRQRLLFLPVGLSGRPGGSETSARRCLSA
                     LSDGLGALRPRAPAARGGVSRASPLLLLLLVPSPRLAAAAPRRQLGDWERSRLGYAAP
                     PAGRSSAWRCSPGVAAAAGALPQYHGPAPALVSCRRELSLSAGSLQLERKRRDFTSSG
                     SRKLYFDTHALVCLLEDNGFATQQAEIIVSALVKILEANMDIVYKDMVTKMQQEITFQ
                     QVMSQIANVKKDMIILEKSEFSALRAENEKIKLELHQLKQQVMDEVIKVRTDTKLDFN
                     LEKSRVKELYSLNEKKLLELRTEIVALHAQQDRALTQTDRKIETEVAGLKTMLESHKL
                     DNIKYLAGSIFTCLTVALGFYRLWI"
     exon            544..663
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /inference="alignment:Splign:2.1.0"
     exon            664..767
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /inference="alignment:Splign:2.1.0"
     exon            768..869
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /inference="alignment:Splign:2.1.0"
     exon            870..911
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /inference="alignment:Splign:2.1.0"
     exon            912..983
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /inference="alignment:Splign:2.1.0"
     exon            984..1037
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1152
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..5460
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1207..1212
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="hexamer: AATAAA"
     polyA_site      1229
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="major polyA site"
     regulatory      5248..5253
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="hexamer: AATAAA"
     polyA_site      5277
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
     regulatory      5440..5445
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
                     /note="hexamer: AATAAA"
     polyA_site      5460
                     /gene="MCUR1"
                     /gene_synonym="C6orf79; CCDC90A; FMP32"
ORIGIN      
        1 aggaaagggc ggtcctgcgc tgtggcccac gctcgctccc gctgtcggac tctgggcctg
       61 gaccgcgcgt ggccggcgcc aaaagcgaga ggcatgagcg cgcgcccggg ccagtgaact
      121 gctcggggat ggactgcggc tcggtcggcg gccagaggac ccagcgcctg cccggccgcc
      181 agcggcttct cttcttgccc gtgggcctca gcggaagacc gggcggcagc gaaacctcag
      241 cacgccgctg cctctctgcg ctctccgacg gtctgggggc gctgcgccct cgcgccccgg
      301 cggcccgcgg cggcgtgtca cgtgcctcac cgctgctcct cctcctgcta gtgccctccc
      361 cgcgcttggc cgccgcagcc ccgcgccggc agctcgggga ctgggagcgc tcgcgcctcg
      421 ggtatgccgc acccccggcc gggcgcagca gcgcgtggag gtgctcaccg ggcgtcgccg
      481 ctgccgccgg cgcccttccc cagtaccacg gcccggcgcc tgcactcgtt tcctgcagga
      541 gagagctaag cttgtctgct ggatccctgc agctggagcg caaaaggaga gatttcacct
      601 cttctgggag caggaaactc tacttcgaca ctcatgcctt agtgtgctta ctggaagaca
      661 atgggtttgc tactcaacaa gcagaaatca ttgtgtctgc attggtcaag atcctggagg
      721 ccaacatgga catcgtctac aaagatatgg tcaccaagat gcagcaggaa atcacttttc
      781 agcaagtaat gtctcagatt gcgaatgtga aaaaggatat gattattttg gagaagagtg
      841 aattttcagc cctcagagca gaaaatgaga aaataaaact cgaactacat cagttaaaac
      901 aacaagtaat ggatgaagtg atcaaagtcc gaacagatac caaattagac ttcaacctag
      961 aaaagagcag agtaaaagaa ttgtattcat tgaacgaaaa gaagctgctg gaattgagaa
     1021 cagaaatagt ggcattgcat gcccagcaag atcgggccct tacccagaca gacaggaaga
     1081 tcgaaactga ggttgctggc ctcaaaacca tgcttgagtc acacaagctt gataatatta
     1141 aatatttagc agggtctata tttacgtgcc taacagtagc tctgggattt tatcgcctgt
     1201 ggatctaata aagtgtctat ttaaagtgat ttctactgtt ttgccttaag aataccagat
     1261 tgttggctgg gtgcggtggc tcacacctgt aattccagca ctttgggagg ctgaggcagg
     1321 tggattacct gaggtcagga gttcgagacc agcctggcca acacggtgaa accccgtctc
     1381 tactaaaaaa ttaaaacatt aggcgggcgt ggtggcgggc gcctgtagtc ccagctactc
     1441 gggaggctaa ggtgtgaacc tgggaggcgg agcttgtagt gagccgagat cacgtcactg
     1501 cactccagcc tgggcaacag agcgagactc cgtctcaaaa aaaaaaaaaa aaccggaata
     1561 ccagattgtt gtccttttgt tttcttgtta cacatttgag cccagatttt gacttaatgt
     1621 gtattattta tttttatgaa aattgtggac acataaccaa gataaagaag tcaggtattc
     1681 catagccatt ccttatctcc tttctgctta gttgactttc tagctgagtg gtgcacagtg
     1741 catggaagat tccacttagc cggaccagga agcttggtct catctgtggt gcacaccaac
     1801 agcaaacatt gatgtaattc tctacaactt aatctttggc acatagagga tttgggggtc
     1861 tccatgttca gggcacaatg gctttaataa gtgctggaaa atcactgaag ctaaaccaag
     1921 agcaccagat cctctttacc taaataacca gtctttaaca tgagctagtc cctgtaccat
     1981 agtattgttt cagctgtagt tggttgtcat gttaataaga cagctgcacg tctaccttct
     2041 tttcttttga tttccattgt cttggtaagt tattgttagg gttattttta atgtgccttc
     2101 cagccagaaa aatcagctgt ctaaagaagc attgcaattg taatggggac tcttacctct
     2161 tagaatgcaa gattttccct cctccctccc tcttctccat ctctttccct catgatttga
     2221 gaactgtaat aatcctccac tggtggcatt acctacctag aaaacctgct gattcttagc
     2281 atggaacttt gcttcagttt gcaggacaaa gtctgcttcc ttccggtctt catttacttt
     2341 ttatacaagg gatgcagtca gctctccatg tataagatac ctagatgatg gatacatatt
     2401 tcataaatga aatttatgtc attaatgaat atccccttgc ccacaaccag ctcaggcttt
     2461 caaaattcga gaatggtcat gccacacagc attctaatct agatggatta attctgttgt
     2521 tcaaaacatt ctcatacctg cctttatatt gaaaacaaat tctagataca actggggtta
     2581 ttctggaaaa gcacattctc accttttttt tttttttgag acggagtctc gcactgtcgc
     2641 agggctggag tgcattgtcg tgatctctgc tcactgcaac ctctgcctcc tgggttcaag
     2701 cgattctcct gcctcagtct cctgagtagc tgggattaca ggtgcccacc accacgccca
     2761 gctaattttt gtatttttag tagagatgag gtttcaccat gttggccagg ctggtctcta
     2821 actcctgacc tcgtgattca cccgccttgg tctcccaaag tagtgggatt acaggcgtga
     2881 gccgctgcgc ctggcccatt ctcatcttat tcaaattact ggcacatggg caagagagac
     2941 aatgacatgg atagaagctt ttctgccttt ctctgcacac acatacagtg aaggaaccac
     3001 aggcagattt tttgatcagt ttggtgaata cattgctcgt tgtcactgtt ccaaccacat
     3061 tggtaaaaaa aatagttacc ttttgtcctt tggatgtcat gtctaaactt tggaaaatat
     3121 aagtcattgc ccttttagag aatgtttgtg tagtccaaag attgtgagct ccatatagta
     3181 tgaaaatcaa gtacttttgc atgagcaata gcagtttcaa agtgaaatat tataatttaa
     3241 tctttttcaa gtagatcaaa aattcttaac tgattaataa aatattttat caatatatca
     3301 tccccctttc agagagaagt ccccagaaga gacagcacac ttagcaattg ccctcattat
     3361 taaaggccta ggtgagtggc ataaagggcc atatgcgatt atgtttcaag gtaaacatta
     3421 cctaaccttg tgtgggttaa aaacagtgaa gtgtccttgt atcctgataa aatttttttt
     3481 taaataacat ggtgggttga catttttgca tctgctataa gttttctcac atgtcgttct
     3541 tcctggtgag agcgggctgc atcattctgg cacttaattt gggtgttcga ttttgctata
     3601 gagttctttg cagtacagca tagcctcttc ttggccttgg gaacagtgaa ctcttctttt
     3661 gatggtgtgg attgcatgca tatctggaga gaggagggct caggactgtg ttcactttat
     3721 ttggtcagat gtattttatt tgaaaaccat ttgagcccaa aatacaagtg tacccttccc
     3781 acttctggct caagcacccg tgagccgact agacgtaata ttaaaactta ctgatgctgg
     3841 gtgcggtggc tcatgcctat aatcccagca ctttgggagg ccaaggcagg cagatcacct
     3901 gaggtcagga gttggagacc agactggcca acatgacgaa atgctctcgc tactaaaaat
     3961 agaaaaatta gccaggcgtg gtggcacacc cctgtaatcc tagctactcg ggaggctgag
     4021 acaggaaaat tgcatgaacc tgggaggcag aggttgcagt gagcagagat tacaccactg
     4081 caacgagact cgggcccaga cgagatctgc ctgggcgaca cagtgagact ctgtctcaaa
     4141 ataaataaat aagtaaatag aacctcctga gctaccctgg cttataagga ttcagattac
     4201 tttaggaaat taggcattag cactaggagg ggggaagatg gctggcaaaa cttctagcta
     4261 gcaacctatg tctagcacat gggtaactaa ccatagcgag atcctgaaca catatcctct
     4321 aggtgcaggt ggagggaacg atgtccaata cctgaagcag aatctcacat ggacggaacg
     4381 tctgtatttc cctctcctgc acgaatcact catcattctt ggagggcttc tctgcattcc
     4441 tccttttctt ctctcccctc ccctgccttt tgtcttttct aaagagtctg aactccgatt
     4501 tccatgctct cctgctacat taataagcaa aacctgcttg tgtgtacggt tctttactgg
     4561 aaacatgact ttttgtttct gtattggttt tactgtcatc cagttttcta gtttaatatc
     4621 tagcaaaact aaatctgaat gtactcgctt tttccgttaa gtatgccaag cacctcggtt
     4681 gaaaggcttg actcaaacca gaagtcttgc tggaattcgt ctctgaacac ttgaaaaaca
     4741 gaaaccctga gccgcaacaa acatgcctct gtgtgtcggg attgcctttg tctctgcttc
     4801 catgtggctt ttccttttgt agctatgctt agtgacataa tcttccctct tctagccttc
     4861 tcctttcaag cctgtctgtt aattaaccat gtcagtattg gcaagcattt atcttccccc
     4921 accctaacat gcaatcttct aagaattttg caaaattcta aacaaatata gagatggtat
     4981 atagaattca tatctagaaa actttgattt taatgtgagc ttatcaaatt tgttctggct
     5041 tttttggcac taaggcaaaa acatgttaac cagaaataat ttattcttca tgtatgtaaa
     5101 atatttgaga atgtttagcc ttttattaga attttatttg gaaaatattt atctttctac
     5161 acattttaca cttatgttcc tttgcttata acccaatttc ttaacttttt tgttacttaa
     5221 gcaaatatca attatgtttt attatctaat aaagtgtaag attcttacta tctaaaatat
     5281 ttaattctgt gtgactaata tacttttctg atcattcaaa ttgaatatga aaagctagaa
     5341 taactgtatt gcaactgtta attccagcca attgtataat gataacactg gtgaatttct
     5401 aagtaaatct aatacttgaa aatttgggta tacatagaaa ataaatttta atataatgta
//
