LOCUS       NM_010922               1055 bp    mRNA    linear   ROD 04-JUN-2024
DEFINITION  Mus musculus mitochondrial ribosomal protein L40 (Mrpl40), mRNA.
ACCESSION   NM_010922
VERSION     NM_010922.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1055)
  AUTHORS   Cheong,A., Lingutla,R. and Mager,J.
  TITLE     Expression analysis of mammalian mitochondrial ribosomal protein
            genes
  JOURNAL   Gene Expr Patterns 38, 119147 (2020)
   PUBMED   32987154
REFERENCE   2  (bases 1 to 1055)
  AUTHORS   Devaraju,P., Yu,J., Eddins,D., Mellado-Lagarde,M.M., Earls,L.R.,
            Westmoreland,J.J., Quarato,G., Green,D.R. and Zakharenko,S.S.
  TITLE     Haploinsufficiency of the 22q11.2 microdeletion gene Mrpl40
            disrupts short-term synaptic plasticity and working memory through
            dysregulation of mitochondrial calcium
  JOURNAL   Mol Psychiatry 22 (9), 1313-1326 (2017)
   PUBMED   27184122
  REMARK    GeneRIF: Two-photon imaging of the genetically encoded fluorescent
            calcium indicator GCaMP6, expressed in presynaptic cytosol or
            mitochondria, showed that Mrpl40 haploinsufficiency deregulates STP
            via impaired calcium extrusion from the mitochondrial matrix
            through the mitochondrial permeability transition pore.
REFERENCE   3  (bases 1 to 1055)
  AUTHORS   Greber,B.J. and Ban,N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   4  (bases 1 to 1055)
  AUTHORS   Paronett,E.M., Meechan,D.W., Karpinski,B.A., LaMantia,A.S. and
            Maynard,T.M.
  TITLE     Ranbp1, Deleted in DiGeorge/22q11.2 Deletion Syndrome, is a
            Microcephaly Gene That Selectively Disrupts Layer 2/3 Cortical
            Projection Neuron Generation
  JOURNAL   Cereb Cortex 25 (10), 3977-3993 (2015)
   PUBMED   25452572
REFERENCE   5  (bases 1 to 1055)
  AUTHORS   Brown,A., Amunts,A., Bai,X.C., Sugimoto,Y., Edwards,P.C.,
            Murshudov,G., Scheres,S.H.W. and Ramakrishnan,V.
  TITLE     Structure of the large ribosomal subunit from human mitochondria
  JOURNAL   Science 346 (6210), 718-722 (2014)
   PUBMED   25278503
REFERENCE   6  (bases 1 to 1055)
  AUTHORS   Maynard,T.M., Haskell,G.T., Peters,A.Z., Sikich,L., Lieberman,J.A.
            and LaMantia,A.S.
  TITLE     A comprehensive analysis of 22q11 gene expression in the developing
            and adult brain
  JOURNAL   Proc Natl Acad Sci U S A 100 (24), 14433-14438 (2003)
   PUBMED   14614146
REFERENCE   7  (bases 1 to 1055)
  AUTHORS   Puech,A., Saint-Jore,B., Merscher,S., Russell,R.G., Cherif,D.,
            Sirotkin,H., Xu,H., Factor,S., Kucherlapati,R. and Skoultchi,A.I.
  TITLE     Normal cardiovascular development in mice deficient for 16 genes in
            550 kb of the velocardiofacial/DiGeorge syndrome region
  JOURNAL   Proc Natl Acad Sci U S A 97 (18), 10090-10095 (2000)
   PUBMED   10963672
REFERENCE   8  (bases 1 to 1055)
  AUTHORS   Lund,J., Chen,F., Hua,A., Roe,B., Budarf,M., Emanuel,B.S. and
            Reeves,R.H.
  TITLE     Comparative sequence analysis of 634 kb of the mouse chromosome 16
            region of conserved synteny with the human velocardiofacial
            syndrome region on chromosome 22q11.2
  JOURNAL   Genomics 63 (3), 374-383 (2000)
   PUBMED   10704284
REFERENCE   9  (bases 1 to 1055)
  AUTHORS   Lund,J., Roe,B., Chen,F., Budarf,M., Galili,N., Riblet,R.,
            Miller,R.D., Emanuel,B.S. and Reeves,R.H.
  TITLE     Sequence-ready physical map of the mouse chromosome 16 region with
            conserved synteny to the human velocardiofacial syndrome region on
            22q11.2
  JOURNAL   Mamm Genome 10 (5), 438-443 (1999)
   PUBMED   10337614
REFERENCE   10 (bases 1 to 1055)
  AUTHORS   Funke,B., Puech,A., Saint-Jore,B., Pandita,R., Skoultchi,A. and
            Morrow,B.
  TITLE     Isolation and characterization of a human gene containing a nuclear
            localization signal from the critical region for velo-cardio-facial
            syndrome on 22q11
  JOURNAL   Genomics 53 (2), 146-154 (1998)
   PUBMED   9790763
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AA240860.1 and AK145885.1.
            
            On Aug 1, 2009 this sequence version replaced NM_010922.1.
            
            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 :: AK145885.1, CB182708.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849381, SAMN01164134
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                AA240860.1         1-28
            29-1055             AK145885.1         27-1053
FEATURES             Location/Qualifiers
     source          1..1055
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 11.69 cM"
     gene            1..1055
                     /gene="Mrpl40"
                     /gene_synonym="Nlvcf"
                     /note="mitochondrial ribosomal protein L40"
                     /db_xref="GeneID:18100"
                     /db_xref="MGI:MGI:1332635"
     exon            1..167
                     /gene="Mrpl40"
                     /gene_synonym="Nlvcf"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..735
                     /gene="Mrpl40"
                     /gene_synonym="Nlvcf"
                     /note="39S ribosomal protein L40, mitochondrial; L40mt;
                     MRP-L40; nuclear localization signal-containing protein
                     deleted in velocardiofacial syndrome homolog; nuclear
                     localization signal protein absent in velo-cardio-facial
                     patients; large ribosomal subunit protein mL40"
                     /codon_start=1
                     /product="large ribosomal subunit protein mL40 precursor"
                     /protein_id="NP_035052.2"
                     /db_xref="CCDS:CCDS28030.1"
                     /db_xref="GeneID:18100"
                     /db_xref="MGI:MGI:1332635"
                     /translation="MATGVMLCAARALRPRSWIPGTCQAHVRHTHQRASLLAFWDLIP
                     MRAEPLRKKKKVDPRKDQAAKDRLKKRIRKLEKASQELIPIEDFITPVRFLDKSRQRP
                     QEEHSPEESERRALLLKRWALFKQQEHEMERDAIRSMLEAQQEALEELKLESAELYAE
                     AIKRDTSLFPFEKEGPHYTPPISNYQAPEGRYNDITKVYTQVEFKR"
     exon            168..251
                     /gene="Mrpl40"
                     /gene_synonym="Nlvcf"
                     /inference="alignment:Splign:2.1.0"
     exon            252..410
                     /gene="Mrpl40"
                     /gene_synonym="Nlvcf"
                     /inference="alignment:Splign:2.1.0"
     exon            411..1055
                     /gene="Mrpl40"
                     /gene_synonym="Nlvcf"
                     /inference="alignment:Splign:2.1.0"
     regulatory      836..841
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mrpl40"
                     /gene_synonym="Nlvcf"
                     /note="hexamer: AATAAA"
     polyA_site      856
                     /gene="Mrpl40"
                     /gene_synonym="Nlvcf"
                     /note="major polyA site"
ORIGIN      
        1 cccagacccg cgagttccgg gccgaggcct gccagacccg accgggtacc tcaggtcgga
       61 ccgcccaggg gcgtgctccc ggaagctgcc cgccagcggg tggcgtgaaa aactatggct
      121 accggggtga tgctgtgtgc tgcgcgggct ctgcggcctc ggagctggat ccctggaacc
      181 tgccaggcac acgtcagaca cacccaccag agagcttcct tactggcctt ctgggatctc
      241 atccccatga gagcagaacc tctgcggaag aagaagaagg tagaccccag aaaggatcaa
      301 gcagcaaagg atcgcttgaa aaagaggatc cgaaaactgg aaaaagcctc ccaagaactg
      361 attcctattg aagattttat tacccctgtg aggttcttgg ataaatcaag acagcgacct
      421 caggaggagc attcacctga ggagagtgaa cggagagctc ttctgctgaa gaggtgggca
      481 ctgtttaagc agcaggagca tgagatggag agggacgcca tcagatccat gctagaagcc
      541 cagcaggaag ccctggagga gctgaaactt gaatctgcag agctctatgc cgaggccata
      601 aagcgggata ccagcctatt ccccttcgag aaagaagggc cacattacac accacctatc
      661 tctaactacc aggcccctga aggcaggtac aatgatatca ccaaggtgta cacacaagta
      721 gaattcaaaa gataagagac tgaaaactgc tgtcctggga acatgctggc cctaggagtc
      781 tggagtagag atctaaagtc tactttccac agacaagtga gtcatcctag gaacaaataa
      841 agggtaatca agagtatctg tcttttgttt tgtttttttc aagtcagggt ttctctgtgt
      901 agtcctggct gtcctggaac tcactctgta gaccaggctg gcctcgaact cggaaattca
      961 cctgcctctg cctcccaagt gctgggaata aaggcattcg ccaccatgcc cggctgtcat
     1021 ttattgtaat caacaaataa agggtaatca aaagt
//
