LOCUS       NM_016069                533 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens presequence translocase associated motor 16 (PAM16),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016069
VERSION     NM_016069.11
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 533)
  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 533)
  AUTHORS   Waingankar,T.P. and D'Silva,P.
  TITLE     Multiple variants of the human presequence translocase motor
            subunit Magmas govern the mitochondrial import
  JOURNAL   J Biol Chem 297 (6), 101349 (2021)
   PUBMED   34715125
  REMARK    GeneRIF: Multiple variants of the human presequence translocase
            motor subunit Magmas govern the mitochondrial import.
REFERENCE   3  (bases 1 to 533)
  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 533)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 533)
  AUTHORS   Di,K., Lomeli,N., Bota,D.A. and Das,B.C.
  TITLE     Magmas inhibition as a potential treatment strategy in malignant
            glioma
  JOURNAL   J Neurooncol 141 (2), 267-276 (2019)
   PUBMED   30414099
  REMARK    GeneRIF: Findings demonstrate that Magmas is overexpressed in
            tissue sections from glioma patients and xenografts. In vivo
            studies showed that a novel Magmas small molecule inhibitor, BT#9,
            could cross the BBB in mice. In vitro studies revealed that BT#9
            significantly decreased cell proliferation, induced apoptosis, and
            blocked migration and invasion.
REFERENCE   6  (bases 1 to 533)
  AUTHORS   Sinha,D., Joshi,N., Chittoor,B., Samji,P. and D'Silva,P.
  TITLE     Role of Magmas in protein transport and human mitochondria
            biogenesis
  JOURNAL   Hum Mol Genet 19 (7), 1248-1262 (2010)
   PUBMED   20053669
REFERENCE   7  (bases 1 to 533)
  AUTHORS   Elsner,S., Simian,D., Iosefson,O., Marom,M. and Azem,A.
  TITLE     The mitochondrial protein translocation motor: structural
            conservation between the human and yeast Tim14/Pam18-Tim16/Pam16
            co-chaperones
  JOURNAL   Int J Mol Sci 10 (5), 2041-2053 (2009)
   PUBMED   19564938
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 533)
  AUTHORS   Jubinsky,P.T., Short,M.K., Mutema,G., Morris,R.E., Ciraolo,G.M. and
            Li,M.
  TITLE     Magmas expression in neoplastic human prostate
  JOURNAL   J Mol Histol 36 (1-2), 69-75 (2005)
   PUBMED   15704001
  REMARK    GeneRIF: Magmas expression in prostate cancer.
REFERENCE   9  (bases 1 to 533)
  AUTHORS   Jubinsky,P.T., Messer,A., Bender,J., Morris,R.E., Ciraolo,G.M.,
            Witte,D.P., Hawley,R.G. and Short,M.K.
  TITLE     Identification and characterization of Magmas, a novel
            mitochondria-associated protein involved in granulocyte-macrophage
            colony-stimulating factor signal transduction
  JOURNAL   Exp Hematol 29 (12), 1392-1402 (2001)
   PUBMED   11750097
REFERENCE   10 (bases 1 to 533)
  AUTHORS   Bauer,M.F., Gempel,K., Reichert,A.S., Rappold,G.A., Lichtner,P.,
            Gerbitz,K.D., Neupert,W., Brunner,M. and Hofmann,S.
  TITLE     Genetic and structural characterization of the human mitochondrial
            inner membrane translocase
  JOURNAL   J Mol Biol 289 (1), 69-82 (1999)
   PUBMED   10339406
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG715429.1 and AK026514.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_016069.10.
            
            Summary: This gene encodes a mitochondrial protein involved in
            granulocyte-macrophage colony-stimulating factor (GM-CSF)
            signaling. This protein also plays a role in the import of
            nuclear-encoded mitochondrial proteins into the mitochondrial
            matrix and may be important in reactive oxygen species (ROS)
            homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike
            type spondylometaphyseal dysplasia, an early lethal skeletal
            dysplasia characterized by short stature, developmental delay and
            other skeletal abnormalities. [provided by RefSeq, May 2017].
            
            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 :: AK026514.1, BP317921.2 [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                 :: ENST00000318059.8/
                                                  ENSP00000315693.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                BG715429.1         56-77
            23-533              AK026514.1         1-511
FEATURES             Location/Qualifiers
     source          1..533
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..533
                     /gene="PAM16"
                     /gene_synonym="CGI-136; MAGMAS; SMDMDM; TIM16; TIMM16"
                     /note="presequence translocase associated motor 16"
                     /db_xref="GeneID:51025"
                     /db_xref="HGNC:HGNC:29679"
                     /db_xref="MIM:614336"
     exon            1..90
                     /gene="PAM16"
                     /gene_synonym="CGI-136; MAGMAS; SMDMDM; TIM16; TIMM16"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..465
                     /gene="PAM16"
                     /gene_synonym="CGI-136; MAGMAS; SMDMDM; TIM16; TIMM16"
                     /note="mitochondria associated protein involved in
                     granulocyte macrophage colony stimulating factor signal
                     transduction; magmas-like protein; mitochondria-associated
                     granulocyte macrophage CSF-signaling molecule; presequence
                     translocase associated motor 16 homolog"
                     /codon_start=1
                     /product="mitochondrial import inner membrane translocase
                     subunit TIM16"
                     /protein_id="NP_057153.8"
                     /db_xref="CCDS:CCDS10512.1"
                     /db_xref="GeneID:51025"
                     /db_xref="HGNC:HGNC:29679"
                     /db_xref="MIM:614336"
                     /translation="MAKYLAQIIVMGVQVVGRAFARALRQEFAASRAAADARGRAGHR
                     SAAASNLSGLSLQEAQQILNVSKLSPEEVQKNYEHLFKVNDKSVGGSFYLQSKVVRAK
                     ERLDEELKIQAQEDREKGQMPHT"
     exon            91..175
                     /gene="PAM16"
                     /gene_synonym="CGI-136; MAGMAS; SMDMDM; TIM16; TIMM16"
                     /inference="alignment:Splign:2.1.0"
     exon            176..312
                     /gene="PAM16"
                     /gene_synonym="CGI-136; MAGMAS; SMDMDM; TIM16; TIMM16"
                     /inference="alignment:Splign:2.1.0"
     exon            313..378
                     /gene="PAM16"
                     /gene_synonym="CGI-136; MAGMAS; SMDMDM; TIM16; TIMM16"
                     /inference="alignment:Splign:2.1.0"
     exon            379..533
                     /gene="PAM16"
                     /gene_synonym="CGI-136; MAGMAS; SMDMDM; TIM16; TIMM16"
                     /inference="alignment:Splign:2.1.0"
     regulatory      515..520
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAM16"
                     /gene_synonym="CGI-136; MAGMAS; SMDMDM; TIM16; TIMM16"
                     /note="hexamer: AATAAA"
     polyA_site      533
                     /gene="PAM16"
                     /gene_synonym="CGI-136; MAGMAS; SMDMDM; TIM16; TIMM16"
                     /note="major polyA site"
ORIGIN      
        1 cttgacctct gacccgccga ccacgcttga tccccggccg cggggccagg aagtcggagt
       61 ttgagccccg gaggcagagc ggctgccatg gccaagtacc tggcccagat cattgtgatg
      121 ggcgtgcagg tggtgggcag ggcctttgca cgggccttgc ggcaggagtt tgcagccagc
      181 cgggccgcag ctgatgcccg aggacgcgct ggacaccggt ctgcagccgc ttccaacctc
      241 tccggcctca gcctccagga ggcacagcag attctcaacg tgtccaagct gagccctgag
      301 gaggtccaga agaactatga acacttattt aaggtgaatg ataaatccgt gggtggctcc
      361 ttctacctgc agtcaaaggt ggtccgcgca aaggagcgcc tggatgagga actcaaaatc
      421 caggcccagg aggacagaga aaaagggcag atgccccata cgtgactgct cggctccccc
      481 cgcccacccc gccgcctcta atttatagct tggtaataaa tttcttttct gca
//
