LOCUS       NM_001318890            2081 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens acyl-CoA synthetase medium chain family member 1
            (ACSM1), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_001318890 XM_005255084
VERSION     NM_001318890.3
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 2081)
  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 2081)
  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   3  (bases 1 to 2081)
  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   4  (bases 1 to 2081)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 2081)
  AUTHORS   Li,W., Ji,W., Li,Z., He,K., Wang,Q., Chen,J., Qiang,Y., Feng,G.,
            Li,X., Shen,J., Wen,Z., Ji,J. and Shi,Y.
  TITLE     Genetic association of ACSM1 variation with schizophrenia and major
            depressive disorder in the Han Chinese population
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 168B (2), 144-149 (2015)
   PUBMED   25656805
  REMARK    GeneRIF: These data are the first to suggest a positive association
            of the ACSM1 gene with a genetic susceptibility for Schizophrenia
            and major depressive disorder in the Han Chinese population.
REFERENCE   6  (bases 1 to 2081)
  AUTHORS   Sullivan,P.F., Lin,D., Tzeng,J.Y., van den Oord,E., Perkins,D.,
            Stroup,T.S., Wagner,M., Lee,S., Wright,F.A., Zou,F., Liu,W.,
            Downing,A.M., Lieberman,J. and Close,S.L.
  TITLE     Genomewide association for schizophrenia in the CATIE study:
            results of stage 1
  JOURNAL   Mol Psychiatry 13 (6), 570-584 (2008)
   PUBMED   18347602
  REMARK    Erratum:[Mol Psychiatry. 2009 Dec;14(12):1144]
REFERENCE   7  (bases 1 to 2081)
  AUTHORS   Haketa,A., Soma,M., Nakayama,T., Sato,M., Kosuge,K., Aoi,N. and
            Matsumoto,K.
  TITLE     Two medium-chain acyl-coenzyme A synthetase genes, SAH and MACS1,
            are associated with plasma high-density lipoprotein cholesterol
            levels, but they are not associated with essential hypertension
  JOURNAL   J Hypertens 22 (10), 1903-1907 (2004)
   PUBMED   15361761
  REMARK    GeneRIF: Single nucleotide polymorphisms(SNP) in exon 8 of A/G
            polymorphism of MACS1 gene and G/T SNP in intron 3 of SAH gene were
            associated with plasma levels of plasma HDL cholesterol.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2081)
  AUTHORS   Iwai,N., Mannami,T., Tomoike,H., Ono,K. and Iwanaga,Y.
  TITLE     An acyl-CoA synthetase gene family in chromosome 16p12 may
            contribute to multiple risk factors
  JOURNAL   Hypertension 41 (5), 1041-1046 (2003)
   PUBMED   12654705
REFERENCE   9  (bases 1 to 2081)
  AUTHORS   Fujino,T., Takei,Y.A., Sone,H., Ioka,R.X., Kamataki,A., Magoori,K.,
            Takahashi,S., Sakai,J. and Yamamoto,T.T.
  TITLE     Molecular identification and characterization of two medium-chain
            acyl-CoA synthetases, MACS1 and the Sa gene product
  JOURNAL   J Biol Chem 276 (38), 35961-35966 (2001)
   PUBMED   11470804
REFERENCE   10 (bases 1 to 2081)
  AUTHORS   Vessey,D.A., Kelley,M. and Warren,R.S.
  TITLE     Characterization of the CoA ligases of human liver mitochondria
            catalyzing the activation of short- and medium-chain fatty acids
            and xenobiotic carboxylic acids
  JOURNAL   Biochim Biophys Acta 1428 (2-3), 455-462 (1999)
   PUBMED   10434065
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020926.8 and AC141273.2.
            
            On Sep 3, 2020 this sequence version replaced NM_001318890.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 encode the same protein.
            
            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.
            
            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 :: AK314282.1, DRR138522.384092.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2155590
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000520010.6/
                                                  ENSP00000428047.1
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                AC020926.8         73124-73168         c
            46-288              AC020926.8         66485-66727         c
            289-499             AC020926.8         60681-60891         c
            500-707             AC020926.8         57744-57951         c
            708-848             AC020926.8         47019-47159         c
            849-1008            AC020926.8         45315-45474         c
            1009-1088           AC020926.8         37282-37361         c
            1089-1212           AC141273.2         6228-6351
            1213-1293           AC141273.2         9361-9441
            1294-1395           AC141273.2         9972-10073
            1396-1523           AC141273.2         19496-19623
            1524-1623           AC141273.2         21290-21389
            1624-1743           AC141273.2         22597-22716
            1744-2081           AC141273.2         23240-23577
FEATURES             Location/Qualifiers
     source          1..2081
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     gene            1..2081
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /note="acyl-CoA synthetase medium chain family member 1"
                     /db_xref="GeneID:116285"
                     /db_xref="HGNC:HGNC:18049"
                     /db_xref="MIM:614357"
     exon            1..45
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            46..288
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..1830
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /EC_number="6.2.1.2"
                     /EC_number="6.2.1.25"
                     /note="medium-chain acyl-CoA synthetase; Butyrate CoA
                     ligase; butyryl Coenzyme A synthetase 1; butyrate--CoA
                     ligase 1; lipoate-activating enzyme; butyryl-coenzyme A
                     synthetase 1; middle-chain acyl-CoA synthetase 1;
                     benzoate--CoA ligase; xenobiotic/medium-chain fatty
                     acid-CoA ligase HXM-B"
                     /codon_start=1
                     /product="acyl-coenzyme A synthetase ACSM1, mitochondrial"
                     /protein_id="NP_001305819.1"
                     /db_xref="CCDS:CCDS10587.1"
                     /db_xref="GeneID:116285"
                     /db_xref="HGNC:HGNC:18049"
                     /db_xref="MIM:614357"
                     /translation="MQWLMRFRTLWGIHKSFHNIHPAPSQLRCRSLSEFGAPRWNDYE
                     VPEEFNFASYVLDYWAQKEKEGKRGPNPAFWWVNGQGDEVKWSFREMGDLTRRVANVF
                     TQTCGLQQGDHLALMLPRVPEWWLVAVGCMRTGIIFIPATILLKAKDILYRLQLSKAK
                     GIVTIDALASEVDSIASQCPSLKTKLLVSDHSREGWLDFRSLVKSASPEHTCVKSKTL
                     DPMVIFFTSGTTGFPKMAKHSHGLALQPSFPGSRKLRSLKTSDVSWCLSDSGWIVATI
                     WTLVEPWTAGCTVFIHHLPQFDTKVIIQTLLKYPINHFWGVSSIYRMILQQDFTSIRF
                     PALEHCYTGGEVVLPKDQEEWKRRTGLLLYENYGQSETGLICATYWGMKIKPGFMGKA
                     TPPYDVQVIDDKGSILPPNTEGNIGIRIKPVRPVSLFMCYEGDPEKTAKVECGDFYNT
                     GDRGKMDEEGYICFLGRSDDIINASGYRIGPAEVESALVEHPAVAESAVVGSPDPIRG
                     EVVKAFIVLTPQFLSHDKDQLTKELQQHVKSVTAPYKYPRKVEFVSELPKTITGKIER
                     KELRKKETGQM"
     exon            289..499
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            500..707
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            708..848
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            849..1008
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1088
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1212
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1293
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1395
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1523
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1524..1623
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1624..1743
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..2081
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2060..2065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /note="hexamer: AATAAA"
     polyA_site      2081
                     /gene="ACSM1"
                     /gene_synonym="BUCS1; MACS1"
                     /note="major polyA site"
ORIGIN      
        1 atacctacca gggacctagt tcagctacgt cctaaacagt accaggcagg tggtgacttg
       61 agaactctgt gcctggtttc tgaggactgt ttcaccatgc agtggctaat gaggttccgg
      121 accctctggg gcatccacaa atccttccac aacatccacc ctgccccttc acagctgcgc
      181 tgccggtctt tatcagaatt tggagcccca agatggaatg actatgaagt accggaggaa
      241 tttaactttg caagttatgt actggactac tgggctcaaa aggagaagga gggcaagaga
      301 ggtccaaatc cagctttttg gtgggtgaat ggccaagggg atgaagtaaa gtggagcttc
      361 agagagatgg gagacctaac ccgccgtgta gccaacgtct tcacacagac ctgtggccta
      421 caacagggag accatctggc cttgatgctg cctcgagttc ctgagtggtg gctggtggct
      481 gtgggctgca tgcgaacagg gatcatcttc attcctgcga ccatcctgtt gaaggccaaa
      541 gacattctct atcgactaca gttgtctaaa gccaagggca ttgtgaccat agatgccctt
      601 gcctcagagg tggactccat agcttctcag tgcccctctc tgaaaaccaa gctcctggtg
      661 tctgatcaca gccgtgaagg gtggctggac ttccgatcgc tggttaaatc agcatcccca
      721 gaacacacct gtgttaagtc aaagaccttg gacccaatgg tcatcttctt caccagtggg
      781 accacaggct tccccaagat ggcaaaacac tcccatgggt tggccttaca accctccttc
      841 ccaggaagta ggaaattacg gagcctgaag acatctgatg tctcctggtg cctgtcggac
      901 tcaggatgga ttgtggctac catttggacc ctggtagaac catggacagc gggttgtaca
      961 gtctttatcc accatctgcc acagtttgac accaaggtca tcatacagac attgttgaaa
     1021 taccccatta accacttttg gggggtatca tctatatatc gaatgattct gcagcaggat
     1081 ttcaccagca tcaggttccc tgccctggag cactgctata ctggcgggga ggtcgtgttg
     1141 cccaaggatc aggaggagtg gaaaagacgg acgggccttc tgctctacga gaactatggg
     1201 cagtcggaaa cgggactaat ttgtgccacc tactggggaa tgaagatcaa gccgggtttc
     1261 atggggaagg ccactccacc ctacgacgtc caggtcattg atgacaaggg cagcatcctg
     1321 ccacctaaca cagaaggaaa cattggcatc agaatcaaac ctgtcaggcc tgtgagcctc
     1381 ttcatgtgct atgagggtga cccagagaag acagctaaag tggaatgtgg ggacttctac
     1441 aacactgggg acagaggtaa gatggatgaa gagggctaca tttgtttcct ggggaggagt
     1501 gatgacatca ttaatgcctc tgggtatcgc atcgggcctg cagaggttga aagcgctttg
     1561 gtggagcacc cagcggtggc ggagtcagcc gtggtgggca gcccagaccc gattcgaggg
     1621 gaggtggtga aggcctttat tgtcctgacc ccacagttcc tgtcccatga caaggatcag
     1681 ctgaccaagg aactgcagca gcatgtcaag tcagtgacag ccccatacaa gtacccaagg
     1741 aaggtggagt ttgtctcaga gctgccaaaa accatcactg gcaagattga acggaaggaa
     1801 cttcggaaaa aggagactgg tcagatgtaa tcggcagtga actcagaacg cactgcacac
     1861 ctaaggcaaa tccctggcca ctttagtctc cccactatgg tgaggacgag ggtggggcat
     1921 tgagagtgtt gatttgggaa agtatcagga gtgccatgat tccaatgttt tccttctttt
     1981 aaattaaatt cagttgctct gcttcctcca agtcctctgt atctttagaa tttcccaggt
     2041 gagcactcat aacgcaagta ataaaatact gatatcaaca a
//
