LOCUS       NM_013604               1094 bp    mRNA    linear   ROD 01-JUN-2024
DEFINITION  Mus musculus metaxin 1 (Mtx1), transcript variant 1, mRNA.
ACCESSION   NM_013604
VERSION     NM_013604.3
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 1094)
  AUTHORS   Ono,K., Wang,X., Kim,S.O., Armstrong,L.C., Bornstein,P. and Han,J.
  TITLE     Metaxin deficiency alters mitochondrial membrane permeability and
            leads to resistance to TNF-induced cell killing
  JOURNAL   Protein Cell 1 (2), 161-173 (2010)
   PUBMED   21088703
  REMARK    GeneRIF: The alteration of the mitochondrial outer membrane
            properties by metaxin deficiency and Bcl-X(L) overexpression, as
            indicated by a quicker Rh123 release, may be helpful in maintaining
            mitochondrial integrity
            Erratum:[Protein Cell. 2010 Dec;1(12):1128]
REFERENCE   2  (bases 1 to 1094)
  AUTHORS   Rone,M.B., Liu,J., Blonder,J., Ye,X., Veenstra,T.D., Young,J.C. and
            Papadopoulos,V.
  TITLE     Targeting and insertion of the cholesterol-binding translocator
            protein into the outer mitochondrial membrane
  JOURNAL   Biochemistry 48 (29), 6909-6920 (2009)
   PUBMED   19552401
REFERENCE   3  (bases 1 to 1094)
  AUTHORS   Sansom,S.N., Griffiths,D.S., Faedo,A., Kleinjan,D.J., Ruan,Y.,
            Smith,J., van Heyningen,V., Rubenstein,J.L. and Livesey,F.J.
  TITLE     The level of the transcription factor Pax6 is essential for
            controlling the balance between neural stem cell self-renewal and
            neurogenesis
  JOURNAL   PLoS Genet 5 (6), e1000511 (2009)
   PUBMED   19521500
REFERENCE   4  (bases 1 to 1094)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   5  (bases 1 to 1094)
  AUTHORS   Liu,Y., Suzuki,K., Reed,J.D., Grinberg,A., Westphal,H.,
            Hoffmann,A., Doring,T., Sandhoff,K. and Proia,R.L.
  TITLE     Mice with type 2 and 3 Gaucher disease point mutations generated by
            a single insertion mutagenesis procedure
  JOURNAL   Proc Natl Acad Sci U S A 95 (5), 2503-2508 (1998)
   PUBMED   9482915
REFERENCE   6  (bases 1 to 1094)
  AUTHORS   Armstrong,L.C., Komiya,T., Bergman,B.E., Mihara,K. and Bornstein,P.
  TITLE     Metaxin is a component of a preprotein import complex in the outer
            membrane of the mammalian mitochondrion
  JOURNAL   J Biol Chem 272 (10), 6510-6518 (1997)
   PUBMED   9045676
REFERENCE   7  (bases 1 to 1094)
  AUTHORS   Collins,M. and Bornstein,P.
  TITLE     SP1-binding elements, within the common metaxin-thrombospondin 3
            intergenic region, participate in the regulation of the metaxin
            gene
  JOURNAL   Nucleic Acids Res 24 (19), 3661-3669 (1996)
   PUBMED   8871542
REFERENCE   8  (bases 1 to 1094)
  AUTHORS   Long,G.L., Winfield,S., Adolph,K.W., Ginns,E.I. and Bornstein,P.
  TITLE     Structure and organization of the human metaxin gene (MTX) and
            pseudogene
  JOURNAL   Genomics 33 (2), 177-184 (1996)
   PUBMED   8660965
REFERENCE   9  (bases 1 to 1094)
  AUTHORS   Vos,H.L., Mockensturm-Wilson,M., Rood,P.M., Maas,A.M., Duhig,T.,
            Gendler,S.J. and Bornstein,P.
  TITLE     A tightly organized, conserved gene cluster on mouse chromosome 3
            (E3-F1)
  JOURNAL   Mamm Genome 6 (11), 820-822 (1995)
   PUBMED   8597643
REFERENCE   10 (bases 1 to 1094)
  AUTHORS   Bornstein,P., McKinney,C.E., LaMarca,M.E., Winfield,S., Shingu,T.,
            Devarayalu,S., Vos,H.L. and Ginns,E.I.
  TITLE     Metaxin, a gene contiguous to both thrombospondin 3 and
            glucocerebrosidase, is required for embryonic development in the
            mouse: implications for Gaucher disease
  JOURNAL   Proc Natl Acad Sci U S A 92 (10), 4547-4551 (1995)
   PUBMED   7753840
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC161600.6.
            
            On Jun 1, 2019 this sequence version replaced NM_013604.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            CCDS Note: The coding region has been updated to extend the
            N-terminus to one that is supported by available conservation data.
            The use of an alternative upstream  start codon would result in a
            protein that is 144 aa longer at the N-terminal and includes a
            predicted mitochondrial transit peptide (aa 1-92; by MITOPROT).
            
            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 :: AK165923.1, AK165547.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164140 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-95                AC161600.6         207605-207699       c
            96-165              AC161600.6         206669-206738       c
            166-245             AC161600.6         206475-206554       c
            246-338             AC161600.6         204376-204468       c
            339-521             AC161600.6         204058-204240       c
            522-598             AC161600.6         203899-203975       c
            599-753             AC161600.6         203297-203451       c
            754-1094            AC161600.6         202873-203213       c
FEATURES             Location/Qualifiers
     source          1..1094
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 39.01 cM"
     gene            1..1094
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /note="metaxin 1"
                     /db_xref="GeneID:17827"
                     /db_xref="MGI:MGI:103025"
     exon            1..95
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..968
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mitochondrial outer membrane import complex protein 1"
                     /codon_start=1
                     /product="metaxin-1 isoform 1"
                     /protein_id="NP_038632.3"
                     /db_xref="CCDS:CCDS17494.2"
                     /db_xref="GeneID:17827"
                     /db_xref="MGI:MGI:103025"
                     /translation="MAAPMELFCWSGGWGLPSVDLDSLAVLTYTRFTGAPLKIHKTSN
                     PWQSPSGTLPALRTSDGKVITVPHKIITHLRKEKYNADYDLSARQGADTLAFMSLLEE
                     KLLPVLIHTFWIDAKNYVEVTRKWYAEAMPFPLNFFLPGRMQRQYMERLQLLCGEHKS
                     ENEEELEKELYQEARECLTLLSQRLGSQKFFFGDAPASLDAFVFSHLALLLQAKLPSG
                     KLQAHLRGLHNLCAYCTHILNLYFPRDGDEVPLPRQTPAAPETEEEPYRRRTQILSVL
                     AGLAAMVGYALLSGIVSIQRTSPARAPGTRALGLAEEDEED"
     exon            96..165
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /inference="alignment:Splign:2.1.0"
     exon            166..245
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /inference="alignment:Splign:2.1.0"
     exon            246..338
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /inference="alignment:Splign:2.1.0"
     exon            339..521
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /inference="alignment:Splign:2.1.0"
     exon            522..598
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /inference="alignment:Splign:2.1.0"
     exon            599..753
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /inference="alignment:Splign:2.1.0"
     exon            754..1094
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1069..1074
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /note="hexamer: AATAAA"
     polyA_site      1088
                     /gene="Mtx1"
                     /gene_synonym="Gcap6; Mtx"
                     /note="major polyA site"
ORIGIN      
        1 agagagcgta caagatggcg gcgcccatgg agctgttctg ctggtcaggg ggctggggat
       61 tgccgtcggt ggacctggat agtctggccg tgctgaccta taccagattt acaggcgccc
      121 cactgaagat acacaagacc agcaatcctt ggcagagccc ttcaggaact ctgcctgctc
      181 ttcgaaccag tgatgggaaa gtcattacag tgccacacaa gatcatcacc catcttcgta
      241 aagagaagta taatgccgac tacgatctgt cagctcgcca aggagcagat accctagcct
      301 tcatgtctct gctggaggag aaactactgc ctgtgctaat ccatactttt tggatagacg
      361 ccaagaacta tgtggaagtg acccgaaagt ggtatgcaga ggctatgccc tttcccctca
      421 acttcttcct gcccggccgc atgcagcgcc agtacatgga gcggctacag ctgctgtgtg
      481 gcgagcacaa atcagagaac gaggaggaac tagaaaaaga gctataccaa gaggctcggg
      541 agtgcctaac ccttctctct cagcgtctgg gctctcagaa gttcttcttt ggggatgccc
      601 ctgcctccct ggacgccttt gtttttagcc atttggccct gctgctgcag gccaagctgc
      661 ccagtgggaa gctgcaggcc caccttcggg ggctgcacaa cctctgcgcc tactgcaccc
      721 acatcctcaa cctctacttt ccccgggatg gagatgaggt gccacttcca cgccagacac
      781 cagcagcccc tgagaccgag gaggagccat accggcgccg gacccagatt ctctctgtgc
      841 tggcagggct ggcagccatg gtgggctatg ccctgctcag tggcatcgtt tctatccagc
      901 ggacaagccc tgctcgggcc ccaggcaccc gggccttggg cctggctgag gaggatgaag
      961 aggactgatg gcgttcctgt tcccaggact gacttttcta ctcgtgcatt ccagctgtcc
     1021 ctcgtctccc catggttgga gcagccaaaa atggggcgct gtcctcagaa taaacctgtt
     1081 tacactaact ggga
//
