LOCUS       NM_002455               1636 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens metaxin 1 (MTX1), transcript variant 1, mRNA.
ACCESSION   NM_002455
VERSION     NM_002455.5
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 1636)
  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   2  (bases 1 to 1636)
  AUTHORS   Li,L., Yu,S., Hu,Q., Hai,Y. and Li,Y.
  TITLE     Genome-scale CRISPRa screening identifies MTX1 as a contributor for
            sorafenib resistance in hepatocellular carcinoma by augmenting
            autophagy
  JOURNAL   Int J Biol Sci 17 (12), 3133-3144 (2021)
   PUBMED   34421355
  REMARK    GeneRIF: Genome-scale CRISPRa screening identifies MTX1 as a
            contributor for sorafenib resistance in hepatocellular carcinoma by
            augmenting autophagy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1636)
  AUTHORS   Wagner,F., Kunz,T.C., Chowdhury,S.R., Thiede,B., Fraunholz,M.,
            Eger,D. and Kozjak-Pavlovic,V.
  TITLE     Armadillo repeat-containing protein 1 is a dual localization
            protein associated with mitochondrial intermembrane space bridging
            complex
  JOURNAL   PLoS One 14 (10), e0218303 (2019)
   PUBMED   31644573
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1636)
  AUTHORS   Anderson,A.J., Jackson,T.D., Stroud,D.A. and Stojanovski,D.
  TITLE     Mitochondria-hubs for regulating cellular biochemistry: emerging
            concepts and networks
  JOURNAL   Open Biol 9 (8), 190126 (2019)
   PUBMED   31387448
REFERENCE   5  (bases 1 to 1636)
  AUTHORS   Petit,E., Cartron,P.F., Oliver,L. and Vallette,F.M.
  TITLE     The phosphorylation of Metaxin 1 controls Bak activation during
            TNFalpha induced cell death
  JOURNAL   Cell Signal 30, 171-178 (2017)
   PUBMED   27845183
  REMARK    GeneRIF: after the induction of apoptosis, Bak switches from its
            association with Mtx2 and VDAC2 to a closer association with Mtx1.
REFERENCE   6  (bases 1 to 1636)
  AUTHORS   Armstrong,L.C., Saenz,A.J. and Bornstein,P.
  TITLE     Metaxin 1 interacts with metaxin 2, a novel related protein
            associated with the mammalian mitochondrial outer membrane
  JOURNAL   J Cell Biochem 74 (1), 11-22 (1999)
   PUBMED   10381257
REFERENCE   7  (bases 1 to 1636)
  AUTHORS   Winfield,S.L., Tayebi,N., Martin,B.M., Ginns,E.I. and Sidransky,E.
  TITLE     Identification of three additional genes contiguous to the
            glucocerebrosidase locus on chromosome 1q21: implications for
            Gaucher disease
  JOURNAL   Genome Res 7 (10), 1020-1026 (1997)
   PUBMED   9331372
REFERENCE   8  (bases 1 to 1636)
  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   9  (bases 1 to 1636)
  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   10 (bases 1 to 1636)
  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
            AC234582.3, BG717732.1, AK313863.1, BC001906.1 and AI241389.1.
            
            On Aug 7, 2020 this sequence version replaced NM_002455.4.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (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 :: AK313863.1, BX377460.2 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000368376.8/
                                                  ENSP00000357360.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AC234582.3         26596-26599
            5-47                BG717732.1         6-48
            48-375              AK313863.1         1-328
            376-638             BC001906.1         274-536
            639-1511            AK313863.1         570-1442
            1512-1636           AI241389.1         21-145              c
FEATURES             Location/Qualifiers
     source          1..1636
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..1636
                     /gene="MTX1"
                     /gene_synonym="MTX; MTXN"
                     /note="metaxin 1"
                     /db_xref="GeneID:4580"
                     /db_xref="HGNC:HGNC:7504"
                     /db_xref="MIM:600605"
     exon            1..638
                     /gene="MTX1"
                     /gene_synonym="MTX; MTXN"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..1511
                     /gene="MTX1"
                     /gene_synonym="MTX; MTXN"
                     /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_002446.3"
                     /db_xref="CCDS:CCDS1100.1"
                     /db_xref="GeneID:4580"
                     /db_xref="HGNC:HGNC:7504"
                     /db_xref="MIM:600605"
                     /translation="MLLGGPPRSPRSGTSPKGPWSSTGHVQFGKSPQTWPRRTRPRSP
                     EPAAPSGVRGSTWTRRRDSPRRAGPTALSRYVGHLWMGRRPPSPEARGPVPRSSAASR
                     ARRSLASPGISPGPLTATIGGAVAGGGPRQGRAEAHKEVFPGQRVGKMAAPMELFCWS
                     GGWGLPSVDLDSLAVLTYARFTGAPLKVHKISNPWQSPSGTLPALRTSHGEVISVPHK
                     IITHLRKEKYNADYDLSARQGADTLAFMSLLEEKLLPVLVHTFWIDTKNYVEVTRKWY
                     AEAMPFPLNFFLPGRMQRQYMERLQLLTGEHRPEDEEELEKELYREARECLTLLSQRL
                     GSQKFFFGDAPASLDAFVFSYLALLLQAKLPSGKLQVHLRGLHNLCAYCTHILSLYFP
                     WDGAEVPPQRQTPAGPETEEEPYRRRNQILSVLAGLAAMVGYALLSGIVSIQRATPAR
                     APGTRTLGMAEEDEEE"
     exon            639..708
                     /gene="MTX1"
                     /gene_synonym="MTX; MTXN"
                     /inference="alignment:Splign:2.1.0"
     exon            709..788
                     /gene="MTX1"
                     /gene_synonym="MTX; MTXN"
                     /inference="alignment:Splign:2.1.0"
     exon            789..881
                     /gene="MTX1"
                     /gene_synonym="MTX; MTXN"
                     /inference="alignment:Splign:2.1.0"
     exon            882..1064
                     /gene="MTX1"
                     /gene_synonym="MTX; MTXN"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1141
                     /gene="MTX1"
                     /gene_synonym="MTX; MTXN"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1296
                     /gene="MTX1"
                     /gene_synonym="MTX; MTXN"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1636
                     /gene="MTX1"
                     /gene_synonym="MTX; MTXN"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 acccaagccc cagcccggcc tccgctccgg ccgccgccac cgcccctgtt ttgtttccat
       61 ggcgacaggc ggcgcagggc ccgctccaaa cataacgcgc tgtggaaaac atgctgctcg
      121 ggggaccccc ccgcagtccc cgctcgggga cgagccccaa ggggccctgg agcagtacag
      181 gccacgtgca gtttggcaag agcccccaga cctggcccag gcgcacaaga ccccgctctc
      241 cagagcctgc cgcgccttca ggggttcggg gctccacttg gacgaggcgc cgtgactctc
      301 cgaggcgcgc cgggccgaca gcgctgtccc gctacgtggg ccacctctgg atgggccggc
      361 ggccgccctc ccccgaggcc cgcggcccag tcccccgcag ttcagctgcc agtcgggcca
      421 gaagaagcct cgcctccccg gggatctccc caggccccct gaccgcaacg atcggagggg
      481 cggtggcggg gggcgggccc aggcagggga gggcagaagc acacaaggaa gtgtttccgg
      541 gacagagggt gggcaagatg gcggcgccca tggagctgtt ctgctggtca gggggctggg
      601 ggctgccgtc agtggacctg gacagcctgg ccgtgctgac ctatgccaga tttactggtg
      661 ctccactgaa ggtacacaag atcagcaacc cctggcagag cccttcagga actctgcctg
      721 cccttcggac cagtcatgga gaggtcatct cagttccaca caagatcatc acccaccttc
      781 gaaaagagaa gtacaatgct gattatgatc tgtcagctcg gcaaggggca gacaccctgg
      841 ccttcatgtc tctcctggag gagaagttgc tcccggtgct ggtacatact ttttggatag
      901 acaccaagaa ctacgtggaa gtgacccgga agtggtatgc agaggctatg ccctttcccc
      961 tcaacttctt cctgcctggc cgcatgcagc ggcagtacat ggaacggcta cagctgctga
     1021 ctggggagca caggcctgag gacgaggaag agctggagaa ggagctgtac cgagaggctc
     1081 gggagtgtct gaccctgctc tctcagcgcc tgggctctca aaagttcttc tttggagatg
     1141 cccctgcctc cttggacgcc ttcgtcttca gctacttggc cctgctgctg caggcaaagc
     1201 tgcccagtgg gaagctgcag gtccacctgc gtgggctgca caacctctgt gcctattgta
     1261 cccacattct cagtctctac ttcccctggg atggagctga ggtaccaccg caacgccaga
     1321 caccagcagg cccagagact gaggaggagc cataccggcg ccggaaccag atcctatctg
     1381 tgctggcagg actggcagcc atggtgggct acgccttgct cagcggcatt gtctccatcc
     1441 agcgggcaac gcctgctcgg gccccaggca cccggaccct gggcatggct gaggaggatg
     1501 aagaggaatg atttgtcctc acgctcccaa gactggtttt tctactctca tgcattccag
     1561 aggcccccgt gcctcctcgt tgttggtaca gccggacacg gggtgctgcc acccagaata
     1621 aagccactca cactga
//
