LOCUS       NM_001308172            2894 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens acyl-CoA synthetase medium chain family member 2A
            (ACSM2A), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001308172 XM_005255093
VERSION     NM_001308172.2
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 2894)
  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 2894)
  AUTHORS   van der Sluis,R.
  TITLE     Analyses of the genetic diversity and protein expression variation
            of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B
  JOURNAL   Mol Genet Genomics 293 (5), 1279-1292 (2018)
   PUBMED   29948332
  REMARK    GeneRIF: This study assessed the naturally observed sequence
            diversity and protein expression variation of ACSM2A and ACSM2B.
            The allelic variation, haplotype diversity, Tajima's D values, and
            phylogenetic analyses indicated that ACSM2A and ACSM2B are highly
            conserved.The protein expression analyses showed that ACSM2A is the
            predominant transcript in liver.
REFERENCE   3  (bases 1 to 2894)
  AUTHORS   Wang,C., Wang,P., Yang,L.P., Pan,J., Yang,X. and Ma,H.Y.
  TITLE     Association of CYP2C9, CYP2A6, ACSM2A, and CPT1A gene polymorphisms
            with adverse effects of valproic acid in Chinese patients with
            epilepsy
  JOURNAL   Epilepsy Res 132, 64-69 (2017)
   PUBMED   28315807
REFERENCE   4  (bases 1 to 2894)
  AUTHORS   van der Sluis,R. and Erasmus,E.
  TITLE     Xenobiotic/medium chain fatty acid: CoA ligase - a critical review
            on its role in fatty acid metabolism and the detoxification of
            benzoic acid and aspirin
  JOURNAL   Expert Opin Drug Metab Toxicol 12 (10), 1169-1179 (2016)
   PUBMED   27351777
  REMARK    Review article
REFERENCE   5  (bases 1 to 2894)
  AUTHORS   Ledo,N., Ko,Y.A., Park,A.S., Kang,H.M., Han,S.Y., Choi,P. and
            Susztak,K.
  TITLE     Functional genomic annotation of genetic risk loci highlights
            inflammation and epithelial biology networks in CKD
  JOURNAL   J Am Soc Nephrol 26 (3), 692-714 (2015)
   PUBMED   25231882
REFERENCE   6  (bases 1 to 2894)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2894)
  AUTHORS   Boomgaarden,I., Vock,C., Klapper,M. and Doring,F.
  TITLE     Comparative analyses of disease risk genes belonging to the
            acyl-CoA synthetase medium-chain (ACSM) family in human liver and
            cell lines
  JOURNAL   Biochem Genet 47 (9-10), 739-748 (2009)
   PUBMED   19634011
REFERENCE   8  (bases 1 to 2894)
  AUTHORS   Kochan,G., Pilka,E.S., von Delft,F., Oppermann,U. and Yue,W.W.
  TITLE     Structural snapshots for the conformation-dependent catalysis by
            human medium-chain acyl-coenzyme A synthetase ACSM2A
  JOURNAL   J Mol Biol 388 (5), 997-1008 (2009)
   PUBMED   19345228
  REMARK    GeneRIF: Results report the first crystal structure of a
            medium-chain acyl-CoA synthetase ACSM2A, in a series of
            substrate/product/cofactor complexes central to the catalytic
            mechanism.
REFERENCE   9  (bases 1 to 2894)
  AUTHORS   Lindner,I., Rubin,D., Helwig,U., Nitz,I., Hampe,J., Schreiber,S.,
            Schrezenmeir,J. and Doring,F.
  TITLE     The L513S polymorphism in medium-chain acyl-CoA synthetase 2
            (MACS2) is associated with risk factors of the metabolic syndrome
            in a Caucasian study population
  JOURNAL   Mol Nutr Food Res 50 (3), 270-274 (2006)
   PUBMED   16521160
REFERENCE   10 (bases 1 to 2894)
  AUTHORS   Loftus,B.J., Kim,U.J., Sneddon,V.P., Kalush,F., Brandon,R.,
            Fuhrmann,J., Mason,T., Crosby,M.L., Barnstead,M., Cronin,L.,
            Deslattes Mays,A., Cao,Y., Xu,R.X., Kang,H.L., Mitchell,S.,
            Eichler,E.E., Harris,P.C., Venter,J.C. and Adams,M.D.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC137056.3, BC125176.1 and
            AI075158.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001308172.1.
            
            Summary: This gene encodes a mitochondrial acyl-coenzyme A
            synthetase that is specific for medium chain fatty acids. These
            enzymes catalyze fatty acid activation, the first step of fatty
            acid metabolism, through the transfer of acyl-CoA. These enzymes
            also participate in the glycine conjugation pathway in the
            detoxification of xenobiotics such as benzoate and ibuprofen.
            Expression levels of this gene in the kidney may be correlated with
            kidney function. This gene and its paralog ACSM2B (Gene ID:
            348158), both present on chromosome 16, likely arose from a
            chromosomal duplication event. [provided by RefSeq, May 2017].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Variants 1 and 3 encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: SRR5189661.132064.1,
                                           SRR5189664.51528.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000573854.6/
                                                  ENSP00000459451.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-103               AC137056.3         54988-55090
            104-1555            BC125176.1         1-1452
            1556-1556           AC137056.3         84145-84145
            1557-1964           BC125176.1         1454-1861
            1965-2491           AC137056.3         90207-90733
            2492-2894           AI075158.1         16-418              c
FEATURES             Location/Qualifiers
     source          1..2894
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     gene            1..2894
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /note="acyl-CoA synthetase medium chain family member 2A"
                     /db_xref="GeneID:123876"
                     /db_xref="HGNC:HGNC:32017"
                     /db_xref="MIM:614358"
     exon            1..161
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            162..346
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     CDS             170..1903
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /EC_number="6.2.1.2"
                     /EC_number="6.2.1.25"
                     /note="isoform 1 is encoded by transcript variant 1;
                     acyl-coenzyme A synthetase ACSM2A, mitochondrial; acyl-CoA
                     synthetase medium-chain family member 2; butyrate--CoA
                     ligase 2A; butyryl-coenzyme A synthetase 2A; middle-chain
                     acyl-CoA synthetase 2A; benzoate--CoA ligase"
                     /codon_start=1
                     /product="acyl-coenzyme A synthetase ACSM2A, mitochondrial
                     isoform 1"
                     /protein_id="NP_001295101.1"
                     /db_xref="CCDS:CCDS32401.1"
                     /db_xref="GeneID:123876"
                     /db_xref="HGNC:HGNC:32017"
                     /db_xref="MIM:614358"
                     /translation="MHWLRKVQGLCTLWGTQMSSRTLYINSRQLVSLQWGHQEVPAKF
                     NFASDVLDHWADMEKAGKRLPSPALWWVNGKGKELMWNFRELSENSQQAANVLSGACG
                     LQRGDRVAVVLPRVPEWWLVILGCIRAGLIFMPGTIQMKSTDILYRLQMSKAKAIVAG
                     DEVIQEVDTVASECPSLRIKLLVSEKSCDGWLNFKKLLNEASTTHHCVETGSQEASAI
                     YFTSGTSGLPKMAEHSYSSLGLKAKMDAGWTGLQASDIMWTISDTGWILNILCSLMEP
                     WALGACTFVHLLPKFDPLVILKTLSSYPIKSMMGAPIVYRMLLQQDLSSYKFPHLQNC
                     VTVGESLLPETLENWRAQTGLDIRESYGQTETGLTCMVSKTMKIKPGYMGTAASCYDV
                     QIIDDKGNVLPPGTEGDIGIRVKPIRPIGIFSGYVDNPDKTAANIRGDFWLLGDRGIK
                     DEDGYFQFMGRANDIINSSGYRIGPSEVENALMEHPAVVETAVISSPDPVRGEVVKAF
                     VVLASQFLSHDPEQLTKELQQHVKSVTAPYKYPRKIEFVLNLPKTVTGKIQRAKLRDK
                     EWKMSGKARAQ"
     exon            347..557
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            558..765
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            766..909
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1063
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1143
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1267
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1268..1348
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1450
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1578
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..1678
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1679..1798
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1799..2894
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2878..2883
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /note="hexamer: AATAAT"
     polyA_site      2894
                     /gene="ACSM2A"
                     /gene_synonym="A-923A4.1; ACSM2"
                     /note="major polyA site"
ORIGIN      
        1 aatgattagc tgagctctct ttctgacagt gcagggattc tgaagctgtc tgcttgagtt
       61 actgtgctct cttccaaggc tgtaggagtt ctggagctgc tggctggaga ggagggtgga
      121 cgaagctctc tctagaaaga catcctgaga ggacttggca ggcctgaata tgcattggct
      181 gcgaaaagtt cagggacttt gcaccctgtg gggtactcag atgtccagcc gcactctcta
      241 cattaatagt aggcaactgg tgtccctgca gtggggccac caggaagtgc cggccaagtt
      301 taactttgct agtgatgtgt tggatcactg ggctgacatg gagaaggctg gcaagcgact
      361 cccaagccca gccctgtggt gggtgaatgg gaaggggaag gaattaatgt ggaatttcag
      421 agaactgagt gaaaacagcc agcaggcagc caacgtcctc tcgggagcct gtggcctgca
      481 gcgtggggat cgtgtggcag tggtgctgcc ccgagtgcct gagtggtggc tggtgatcct
      541 gggctgcatt cgagcaggtc tcatctttat gcctggaacc atccagatga aatccactga
      601 catactgtat aggttgcaga tgtctaaggc caaggctatt gttgctgggg atgaagtcat
      661 ccaagaagtg gacacagtgg catctgaatg tccttctctg agaattaagc tactggtgtc
      721 tgagaaaagc tgtgatgggt ggctgaactt caagaaacta ctaaatgagg catccaccac
      781 tcatcactgt gtggagactg gaagccagga agcatctgcc atctacttca ctagtgggac
      841 cagtggtctt cccaagatgg cagaacattc ctactcgagc ctgggcctca aggccaagat
      901 ggatgctggt tggacaggcc tgcaagcctc tgatataatg tggaccatat cagacacagg
      961 ttggatactg aacatcttgt gctcacttat ggaaccttgg gcattaggag catgcacatt
     1021 tgttcatctc ttgccaaagt ttgacccact ggttattcta aagacactct ccagttatcc
     1081 aatcaagagt atgatgggtg cccccattgt ttaccggatg ttgctacagc aggatctttc
     1141 cagttacaag ttcccccatc tacagaactg cgtcactgta ggggagtccc ttcttccaga
     1201 aactctggag aactggaggg cccagacagg actggacatc cgagaatcct atggccagac
     1261 agaaacggga ttaacttgca tggtttccaa gacaatgaaa atcaaaccag gatacatggg
     1321 aacggctgct tcctgttatg atgtacagat catagatgat aagggcaacg tcctgccccc
     1381 cggcacagaa ggagacattg gcatcagggt caaacccatc aggcctatag gcatcttctc
     1441 tggctatgtg gacaatcccg acaagacagc agccaacatt cgaggagact tttggctcct
     1501 tggagaccgg ggaatcaaag atgaagatgg gtatttccag tttatgggac gggcaaatga
     1561 tatcattaac tccagcgggt accggattgg accctcggag gtagagaatg cactgatgga
     1621 gcaccctgct gtggttgaga cggctgtgat cagcagccca gaccccgtcc gaggagaggt
     1681 ggtgaaggca tttgtggtcc tggcctcgca gttcctgtcc catgacccag aacagctcac
     1741 caaggagctg cagcagcatg tgaagtcagt gacagcccca tacaagtacc caagaaagat
     1801 agagtttgtc ttgaacctgc ccaagactgt cacagggaaa attcaacgag ccaagcttcg
     1861 agacaaggag tggaagatgt ccggaaaagc ccgtgcgcag tgagacatct aagagacatt
     1921 catttggatt cccctcttct ttctctttct tttccctttg ggcccttggc cttcctatga
     1981 ttatatgaga ttctttatgg aagaacatga atataagttt tgtcttgcct tggttattag
     2041 cacaaaactt taccatgtta gatgttgaaa gaagaaaggg aaggaatgag agagagtgaa
     2101 aaggagaggg taacagaaaa aaaggaaaga aaagtaagtc agggaaatat taaaactgca
     2161 agggaaagca attgaaaaag aaataaagta gggaaagaag gagagaggaa gcaagggaag
     2221 gaggaagaaa ggaaagagga gatgaaaggg ggagaaaaga tagaagaaaa ataattgaag
     2281 ggagaatcag aaaaataaag agcagaaagg aaagaaataa agagagaaag agaaagaaga
     2341 aagagcaaaa gaacacaaga aagaaagaga gggagaaaga gagggagaaa gggagagaaa
     2401 aaaattgtaa aaataaaaat agtaaaagaa actgataaag aaaagtaatg gaagacagga
     2461 agaaaagaag agaaggaagt aaagaggaaa acttataaat attcccacag atagacaaag
     2521 tcaagcataa aactggagct tgagaaggaa atgaaaggcc gtggcacctt cttataccct
     2581 agaagaagac ctccatacag gaagacttgt gtgtggggtt gggacattag aatcatccac
     2641 aagtcacccc aaaccttgga actgtcaggg tcagagggga accaccattt attaagcatt
     2701 tgccatgtgc caggcactaa cccagatgca ttataaatac cacgttgttt cacctgtgtg
     2761 tggcatctac agaccttaga tcatagctgt gagaacaacg taagcactgc caaagttatc
     2821 agctacccat atctcatgtt tttgatgtta tctactcttc ctagaatcaa atattaaaat
     2881 aattttaaaa ccaa
//
