LOCUS       NM_015380               1692 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens SAMM50 sorting and assembly machinery component
            (SAMM50), mRNA.
ACCESSION   NM_015380
VERSION     NM_015380.5
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 1692)
  AUTHORS   Chen,L., Dong,J., Liao,S., Wang,S., Wu,Z., Zuo,M., Liu,B., Yan,C.,
            Chen,Y., He,H., Meng,Q. and Song,Z.
  TITLE     Loss of Sam50 in hepatocytes induces cardiolipin-dependent
            mitochondrial membrane remodeling to trigger mtDNA release and
            liver injury
  JOURNAL   Hepatology 76 (5), 1389-1408 (2022)
   PUBMED   35313046
  REMARK    GeneRIF: Loss of Sam50 in hepatocytes induces cardiolipin-dependent
            mitochondrial membrane remodeling to trigger mtDNA release and
            liver injury.
REFERENCE   2  (bases 1 to 1692)
  AUTHORS   Lee,K.J., Moon,J.S., Kim,N.Y. and Ko,J.S.
  TITLE     Effects of PNPLA3, TM6SF2 and SAMM50 on the development and
            severity of non-alcoholic fatty liver disease in children
  JOURNAL   Pediatr Obes 17 (2), e12852 (2022)
   PUBMED   34490745
  REMARK    GeneRIF: Effects of PNPLA3, TM6SF2 and SAMM50 on the development
            and severity of non-alcoholic fatty liver disease in children.
REFERENCE   3  (bases 1 to 1692)
  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   4  (bases 1 to 1692)
  AUTHORS   Abudu,Y.P., Shrestha,B.K., Zhang,W., Palara,A., Brenne,H.B.,
            Larsen,K.B., Wolfson,D.L., Dumitriu,G., Oie,C.I., Ahluwalia,B.S.,
            Levy,G., Behrends,C., Tooze,S.A., Mouilleron,S., Lamark,T. and
            Johansen,T.
  TITLE     SAMM50 acts with p62 in piecemeal basal- and OXPHOS-induced
            mitophagy of SAM and MICOS components
  JOURNAL   J Cell Biol 220 (8) (2021)
   PUBMED   34037656
  REMARK    GeneRIF: SAMM50 acts with p62 in piecemeal basal- and
            OXPHOS-induced mitophagy of SAM and MICOS components.
REFERENCE   5  (bases 1 to 1692)
  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   6  (bases 1 to 1692)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (bases 1 to 1692)
  AUTHORS   Yuan,X., Waterworth,D., Perry,J.R., Lim,N., Song,K., Chambers,J.C.,
            Zhang,W., Vollenweider,P., Stirnadel,H., Johnson,T., Bergmann,S.,
            Beckmann,N.D., Li,Y., Ferrucci,L., Melzer,D., Hernandez,D.,
            Singleton,A., Scott,J., Elliott,P., Waeber,G., Cardon,L.,
            Frayling,T.M., Kooner,J.S. and Mooser,V.
  TITLE     Population-based genome-wide association studies reveal six loci
            influencing plasma levels of liver enzymes
  JOURNAL   Am J Hum Genet 83 (4), 520-528 (2008)
   PUBMED   18940312
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 1692)
  AUTHORS   Xie,J., Marusich,M.F., Souda,P., Whitelegge,J. and Capaldi,R.A.
  TITLE     The mitochondrial inner membrane protein mitofilin exists as a
            complex with SAM50, metaxins 1 and 2, coiled-coil-helix
            coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11
  JOURNAL   FEBS Lett 581 (18), 3545-3549 (2007)
   PUBMED   17624330
  REMARK    GeneRIF: mitofilin helps regulate mitochondrial morphology and at
            least four of the associated proteins (metaxins 1 and 2, SAM50 and
            CHCHD3) have been implicated in protein import
REFERENCE   9  (bases 1 to 1692)
  AUTHORS   Kozjak-Pavlovic,V., Ross,K., Benlasfer,N., Kimmig,S., Karlas,A. and
            Rudel,T.
  TITLE     Conserved roles of Sam50 and metaxins in VDAC biogenesis
  JOURNAL   EMBO Rep 8 (6), 576-582 (2007)
   PUBMED   17510655
  REMARK    GeneRIF: The pathway of Voltage-dependent anion-selective channel
            biogenesis in human mitochondria involves the TOM complex, Sam50
            and metaxins, and that it is evolutionarily conserved.
REFERENCE   10 (bases 1 to 1692)
  AUTHORS   Humphries,A.D., Streimann,I.C., Stojanovski,D., Johnston,A.J.,
            Yano,M., Hoogenraad,N.J. and Ryan,M.T.
  TITLE     Dissection of the mitochondrial import and assembly pathway for
            human Tom40
  JOURNAL   J Biol Chem 280 (12), 11535-11543 (2005)
   PUBMED   15644312
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB030637.1, AY189688.1 and
            BC011681.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_015380.4.
            
            Summary: This gene encodes a component of the Sorting and Assembly
            Machinery (SAM) of the mitochondrial outer membrane. The Sam
            complex functions in the assembly of beta-barrel proteins into the
            outer mitochondrial membrane.[provided by RefSeq, Jun 2011].
            
            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 :: AK001087.1, BC011681.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000350028.5/ ENSP00000345445.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                DB030637.1         62-85
            25-1689             AY189688.1         1-1665
            1690-1692           BC011681.2         1711-1713
FEATURES             Location/Qualifiers
     source          1..1692
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     gene            1..1692
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /note="SAMM50 sorting and assembly machinery component"
                     /db_xref="GeneID:25813"
                     /db_xref="HGNC:HGNC:24276"
                     /db_xref="MIM:612058"
     exon            1..157
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     CDS             137..1546
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /note="sorting and assembly machinery 50kDa;
                     transformation-related gene 3 protein"
                     /codon_start=1
                     /product="sorting and assembly machinery component 50
                     homolog"
                     /protein_id="NP_056195.3"
                     /db_xref="CCDS:CCDS14055.1"
                     /db_xref="GeneID:25813"
                     /db_xref="HGNC:HGNC:24276"
                     /db_xref="MIM:612058"
                     /translation="MGTVHARSLEPLPSSGPDFGGLGEEAEFVEVEPEAKQEILENKD
                     VVVQHVHFDGLGRTKDDIIICEIGDVFKAKNLIEVMRKSHEAREKLLRLGIFRQVDVL
                     IDTCQGDDALPNGLDVTFEVTELRRLTGSYNTMVGNNEGSMVLGLKLPNLLGRAEKVT
                     FQFSYGTKETSYGLSFFKPRPGNFERNFSVNLYKVTGQFPWSSLRETDRGMSAEYSFP
                     IWKTSHTVKWEGVWRELGCLSRTASFAVRKESGHSLKSSLSHAMVIDSRNSSILPRRG
                     ALLKVNQELAGYTGGDVSFIKEDFELQLNKQLIFDSVFSASFWGGMLVPIGDKPSSIA
                     DRFYLGGPTSIRGFSMHSIGPQSEGDYLGGEAYWAGGLHLYTPLPFRPGQGGFGELFR
                     THFFLNAGNLCNLNYGEGPKAHIRKLAECIRWSYGAGIVLRLGNIARLELNYCVPMGV
                     QTGDRICDGVQFGAGIRFL"
     exon            158..268
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            269..370
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            371..458
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            459..565
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            566..696
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            697..784
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            785..913
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            914..985
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1072
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1143
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1211
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1358
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            1359..1500
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..1692
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1671..1676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /note="hexamer: AATAAA"
     polyA_site      1692
                     /gene="SAMM50"
                     /gene_synonym="CGI-51; OMP85; SAM50; TOB55; TRG-3;
                     YNL026W"
                     /note="major polyA site"
ORIGIN      
        1 agtgttccgc gtccgggggt ttgtgggagt tgccttgacc tgcagctccg ccaccgcgga
       61 cccgccttct gccctcagca gcagacgctc tgtcccgccc gggcagctct gcgaggcagc
      121 ggctggagag ggaaccatgg ggactgtgca cgcccggagt ttggagcctc ttccatcaag
      181 tggacctgat tttggaggat taggagaaga agctgaattt gttgaagttg agcctgaagc
      241 taaacaggaa attcttgaaa acaaagatgt ggttgttcaa catgttcatt ttgatggact
      301 tggaaggact aaagatgata tcatcatttg tgaaattgga gatgttttca aggccaaaaa
      361 cctaattgag gtaatgcgga aatctcatga agcccgtgaa aaattgctcc gtcttggaat
      421 ttttagacaa gtggatgttt tgattgacac atgtcaaggt gatgacgcac ttccaaatgg
      481 gttagacgtt acctttgaag taactgaatt gaggagatta acgggcagtt ataacaccat
      541 ggttggaaac aatgaaggca gtatggtact tggcctcaag cttcctaatc ttcttggtcg
      601 tgcagaaaag gtgacctttc agttttccta tggaacaaaa gaaacttcgt atggcctgtc
      661 cttcttcaaa ccacggcccg gaaacttcga aagaaatttc tctgtaaact tatataaagt
      721 tactggacag ttcccttgga gctcactgcg ggagacggac agaggaatgt cagctgagta
      781 cagttttccc atatggaaga ccagccacac tgtcaagtgg gaaggcgtat ggcgagaact
      841 gggctgcctc tcaaggacgg cgtcatttgc tgttcgaaaa gaaagcggac attcactgaa
      901 atcatctctt tcgcacgcca tggtcatcga ttctcggaat tcttccatct taccaaggag
      961 aggtgctttg ctgaaagtta accaggaact ggcaggctac actggcgggg atgtgagctt
     1021 catcaaagaa gattttgaac ttcagttgaa caagcaactc atatttgatt cagttttttc
     1081 agcgtctttc tggggcggaa tgttggtacc cattggtgat aagccgtcaa gcattgctga
     1141 taggttttac cttgggggac ccacaagcat ccgcggattc agcatgcaca gcatcgggcc
     1201 acagagcgaa ggagactacc taggtggaga agcgtactgg gccggcggcc tgcacctcta
     1261 caccccatta cctttccggc caggccaggg tggctttgga gaacttttcc gaacacactt
     1321 ctttctcaac gcaggaaacc tctgcaacct caactatggg gagggcccca aagctcatat
     1381 tcgtaagctg gctgagtgca tccgctggtc gtacggggcc gggattgtcc tcaggcttgg
     1441 caacatcgct cggttggaac ttaattactg cgtccccatg ggagtacaga caggcgacag
     1501 gatatgtgat ggcgtccagt ttggagctgg gataaggttc ctgtagccga cacccctaca
     1561 ggagaagctc tgggactggg gcagcagcaa ggcgcccatg ccacacaccg tctctcgagg
     1621 aaacgcggtt cagcgattct ttgactgcgg accctgtggg aaaccccgtc aataaatgtt
     1681 aaagacacac tc
//
