LOCUS       NM_017909               1948 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens required for meiotic nuclear division 1 homolog
            (RMND1), transcript variant 1, mRNA.
ACCESSION   NM_017909
VERSION     NM_017909.4
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 1948)
  AUTHORS   Komhoff,M., Gracchi,V., Dijkman,H., Beck,B.B. and Monnens,L.
  TITLE     Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial
            disease
  JOURNAL   Pediatr Nephrol 39 (1), 125-129 (2024)
   PUBMED   37450011
  REMARK    GeneRIF: Hyporeninemic hypoaldosteronism in RMND1-related
            mitochondrial disease.
REFERENCE   2  (bases 1 to 1948)
  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 1948)
  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 1948)
  AUTHORS   Ozieblo,D., Pazik,J., Stepniak,I., Skarzynski,H. and Oldak,M.
  TITLE     Two Novel Pathogenic Variants Confirm RMND1 Causative Role in
            Perrault Syndrome with Renal Involvement
  JOURNAL   Genes (Basel) 11 (9), 1060 (2020)
   PUBMED   32911714
  REMARK    GeneRIF: Two Novel Pathogenic Variants Confirm RMND1 Causative Role
            in Perrault Syndrome with Renal Involvement.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1948)
  AUTHORS   Yamamoto-Ibusuki,M., Yamamoto,Y., Fujiwara,S., Sueta,A.,
            Yamamoto,S., Hayashi,M., Tomiguchi,M., Takeshita,T. and Iwase,H.
  TITLE     C6ORF97-ESR1 breast cancer susceptibility locus: influence on
            progression and survival in breast cancer patients
  JOURNAL   Eur J Hum Genet 23 (7), 949-956 (2015)
   PUBMED   25370037
REFERENCE   6  (bases 1 to 1948)
  AUTHORS   Garcia-Diaz,B., Barros,M.H., Sanna-Cherchi,S., Emmanuele,V.,
            Akman,H.O., Ferreiro-Barros,C.C., Horvath,R., Tadesse,S., El
            Gharaby,N., DiMauro,S., De Vivo,D.C., Shokr,A., Hirano,M. and
            Quinzii,C.M.
  TITLE     Infantile encephaloneuromyopathy and defective mitochondrial
            translation are due to a homozygous RMND1 mutation
  JOURNAL   Am J Hum Genet 91 (4), 729-736 (2012)
   PUBMED   23022099
  REMARK    GeneRIF: The RMND1 mutation caused haploinsufficiency that was
            rescued by overexpression of the wild-type transcript in mutant
            fibroblasts; this overexpression increased the levels and
            activities of mitochondrial respiratory-chain proteins.
REFERENCE   7  (bases 1 to 1948)
  AUTHORS   Janer,A., Antonicka,H., Lalonde,E., Nishimura,T., Sasarman,F.,
            Brown,G.K., Brown,R.M., Majewski,J. and Shoubridge,E.A.
  TITLE     An RMND1 Mutation causes encephalopathy associated with multiple
            oxidative phosphorylation complex deficiencies and a mitochondrial
            translation defect
  JOURNAL   Am J Hum Genet 91 (4), 737-743 (2012)
   PUBMED   23022098
  REMARK    GeneRIF: Results demonstrate that the RMND1 complex is necessary
            for mitochondrial translation, possibly by coordinating the
            assembly or maintenance of the mitochondrial ribosome.
REFERENCE   8  (bases 1 to 1948)
  AUTHORS   Kim,D.H., Lee,S.T., Won,H.H., Kim,S., Kim,M.J., Kim,H.J., Kim,S.H.,
            Kim,J.W., Kim,H.J., Kim,Y.K., Sohn,S.K., Moon,J.H., Jung,C.W. and
            Lipton,J.H.
  TITLE     A genome-wide association study identifies novel loci associated
            with susceptibility to chronic myeloid leukemia
  JOURNAL   Blood 117 (25), 6906-6911 (2011)
   PUBMED   21540461
REFERENCE   9  (bases 1 to 1948)
  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   10 (bases 1 to 1948)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC106065.1 and HY331559.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_017909.3.
            
            Summary: The protein encoded by this gene belongs to the
            evolutionary conserved sif2 family of proteins that share the
            DUF155 domain in common. This protein is thought to be localized in
            the mitochondria and involved in mitochondrial translation.
            Mutations in this gene are associated with combined oxidative
            phosphorylation deficiency-11. Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Dec
            2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1), which has been
            reported to be localized in the mitochondria (PMIDs: 23022098 and
            23022099).
            
            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 :: SRR1660807.104899.1,
                                           SRR1660805.3975.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 23022098, 23022099;
                                                  reported by MitoCarta
            MANE Ensembl match                 :: ENST00000444024.3/
                                                  ENSP00000412708.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1846              BC106065.1         18-1863
            1847-1948           HY331559.1         47-148              c
FEATURES             Location/Qualifiers
     source          1..1948
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1"
     gene            1..1948
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /note="required for meiotic nuclear division 1 homolog"
                     /db_xref="GeneID:55005"
                     /db_xref="HGNC:HGNC:21176"
                     /db_xref="MIM:614917"
     exon            1..111
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            112..629
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..1475
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     required for meiotic nuclear division protein 1 homolog"
                     /codon_start=1
                     /product="required for meiotic nuclear division protein 1
                     homolog isoform 1"
                     /protein_id="NP_060379.2"
                     /db_xref="CCDS:CCDS5232.1"
                     /db_xref="GeneID:55005"
                     /db_xref="HGNC:HGNC:21176"
                     /db_xref="MIM:614917"
                     /translation="MPATLLRAVARSHHILSKAHQCRRIGHLMLKPLKEFENTTCSTL
                     TIRQSLDLFLPDKTASGLNKSQILEMNQKKSDTSMLSPLNAARCQDEKAHLPTMKSFG
                     THRRVTHKPNLLGSKWFIKILKRHFSSVSTETFVPKQDFPQVKRPLKASRTRQPSRTN
                     LPVLSVNEDLMHCTAFATADEYHLGNLSQDLASHGYVEVTSLPRDAANILVMGVENSA
                     KEGDPGTIFFFREGAAVFWNVKDKTMKHVMKVLEKHEIQPYEIALVHWENEELNYIKI
                     EGQSKLHRGEIKLNSELDLDDAILEKFAFSNALCLSVKLAIWEASLDKFIESIQSIPE
                     ALKAGKKVKLSHEEVMQKIGELFALRHRINLSSDFLITPDFYWDRENLEGLYDKTCQF
                     LSIGRRVKVMNEKLQHCMELTDLMRNHLNEKRALRLEWMIVILITIEVMFELGRVFF"
     exon            630..738
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            739..814
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            815..854
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            855..955
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1062
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1127
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1204
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..1325
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1326..1442
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1443..1948
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1825..1830
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /note="hexamer: AATAAA"
     regulatory      1845..1850
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /note="hexamer: AATAAA"
     polyA_site      1846
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /note="major polyA site"
     polyA_site      1856
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /note="major polyA site"
     regulatory      1928..1933
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
                     /note="hexamer: AATAAA"
     polyA_site      1948
                     /gene="RMND1"
                     /gene_synonym="bA351K16; bA351K16.3; C6orf96; COXPD11;
                     RMD1"
ORIGIN      
        1 aggagatggg ttggctgcag tagtgagagg ctgggggtgc ggctctttcc ctgcagtcct
       61 gccgaggaag cgtgcgtccc tggcgcttcc ttcttctctt ccggcggaga gcttgggatg
      121 tggtaatgcc agccacactc ctcagagccg tggccagatc tcatcatata ttatcaaaag
      181 cacatcagtg ccgaagaatc ggtcatctaa tgttaaaacc acttaaggaa tttgaaaata
      241 caacatgcag cacactgaca atacgtcaaa gcttggattt gttccttcct gataaaacag
      301 ctagtggttt gaataagtct cagatcctgg aaatgaacca aaaaaagtca gataccagca
      361 tgctgtctcc attaaatgct gctcgttgcc aagatgaaaa ggcacacctt ccaaccatga
      421 aatcctttgg tactcacagg agagtgaccc acaaaccaaa tctgttgggt tctaaatggt
      481 ttataaaaat attaaagagg catttctcat ctgtatcaac ggaaacattt gttccaaaac
      541 aagacttccc acaggtgaag agaccactaa aagcatccag gaccagacag ccatccagga
      601 ccaaccttcc agttctgtct gtgaacgagg acctaatgca ctgcacagca tttgcaacgg
      661 cagatgagta tcatctggga aatctgtctc aagatctggc ctcccacgga tatgttgaag
      721 taacaagctt gcctagagat gcagcaaata ttttggtgat gggtgtggaa aattctgcaa
      781 aagaaggtga tcctggaaca atattcttct tcagggaagg agctgctgtg ttttggaatg
      841 tgaaagacaa aactatgaag catgtgatga aagttctaga aaaacatgaa attcagccct
      901 atgaaatcgc actggtacac tgggaaaatg aagaacttaa ctacataaaa atagagggac
      961 agtcaaaact tcacaggggg gaaatcaagt taaattcaga gctggattta gatgatgcca
     1021 ttctagagaa gtttgctttc tccaatgctc tatgcctttc tgtaaaactg gcaatttggg
     1081 aagcatcact ggataaattt attgaatcta ttcagtcaat tcctgaggct ttaaaagctg
     1141 ggaagaaagt gaaactatct catgaagaag ttatgcagaa aatcggtgaa ctctttgctc
     1201 taaggcaccg tataaacttg agttcagact tcctgattac tcctgatttc tactgggaca
     1261 gagaaaacct ggaaggactt tacgataaaa cgtgtcaatt ccttagcatt ggccgaagag
     1321 ttaaggtcat gaatgaaaaa cttcagcact gcatggaact aacagatcta atgcggaatc
     1381 acctgaatga gaagagggca ctccgcttgg agtggatgat tgtcatcctc attaccatag
     1441 aggtaatgtt tgagctggga cgagtatttt tctgatcaag tgataaccaa agtgtcactg
     1501 caagagatat tcaagttcta caatcaaaaa ttaaatgttc ggcccggcgc ggtgcctcat
     1561 gcctgtaatc ccagcacttt cggaggccaa gaagggtggc ttgagatgag atcaggagct
     1621 caagacaagc ctggccaaca tggtgaaacc ccatctctac taaaaatacc aaaattagcc
     1681 aggtgtgttg gcacacgccc gtcatctcag ctactcagga ggctgaggca ggagaatctc
     1741 ttgaacttgg gaggcggagg ttgcagtgag ctaagatcac accactgcac tccagccagg
     1801 gcaacagtga gactcagtct caaaaataaa caataaaata aataaataaa tgttcactac
     1861 tgggtgatca tttaataggt gtttttttaa tcaagaaatt atctttttca gcccagtata
     1921 tcgtgtgaat aaaattatga agaatcta
//
