LOCUS       NM_001105069            2935 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens acyl-CoA synthetase medium chain family member 2B
            (ACSM2B), transcript variant 2, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001105069 XM_001126353
VERSION     NM_001105069.2
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 2935)
  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 2935)
  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   3  (bases 1 to 2935)
  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   4  (bases 1 to 2935)
  AUTHORS   Yu,B., Zheng,Y., Alexander,D., Morrison,A.C., Coresh,J. and
            Boerwinkle,E.
  TITLE     Genetic determinants influencing human serum metabolome among
            African Americans
  JOURNAL   PLoS Genet 10 (3), e1004212 (2014)
   PUBMED   24625756
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2935)
  AUTHORS   Hu,M., Lui,S.S., Mak,V.W., Chu,T.T., Lee,V.W., Poon,E.W.,
            Tsui,T.K., Ko,G.T., Baum,L., Tam,L.S., Li,E.K. and Tomlinson,B.
  TITLE     Pharmacogenetic analysis of lipid responses to rosuvastatin in
            Chinese patients
  JOURNAL   Pharmacogenet Genomics 20 (10), 634-637 (2010)
   PUBMED   20679960
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2935)
  AUTHORS   Vessey,D.A., Lau,E., Kelley,M. and Warren,R.S.
  TITLE     Isolation, sequencing, and expression of a cDNA for the HXM-A form
            of xenobiotic/medium-chain fatty acid:CoA ligase from human liver
            mitochondria
  JOURNAL   J Biochem Mol Toxicol 17 (1), 1-6 (2003)
   PUBMED   12616642
REFERENCE   7  (bases 1 to 2935)
  AUTHORS   Vessey,D.A. and Kelley,M.
  TITLE     Characterization of the reaction mechanism for the XL-I form of
            bovine liver xenobiotic/medium-chain fatty acid:CoA ligase
  JOURNAL   Biochem J 357 (Pt 1), 283-288 (2001)
   PUBMED   11415461
REFERENCE   8  (bases 1 to 2935)
  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
REFERENCE   9  (bases 1 to 2935)
  AUTHORS   Vessey,D.A., Hu,J. and Kelley,M.
  TITLE     Interaction of salicylate and ibuprofen with the carboxylic acid:
            CoA ligases from bovine liver mitochondria
  JOURNAL   J Biochem Toxicol 11 (2), 73-78 (1996)
   PUBMED   8884467
REFERENCE   10 (bases 1 to 2935)
  AUTHORS   Vessey,D.A. and Hu,J.
  TITLE     Isolation from bovine liver mitochondria and characterization of
            three distinct carboxylic acid: CoA ligases with activity toward
            xenobiotics
  JOURNAL   J Biochem Toxicol 10 (6), 329-337 (1995)
   PUBMED   8934636
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC141273.2 and AC141053.2.
            
            On May 17, 2019 this sequence version replaced NM_001105069.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform.
            
            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 :: AK129944.1, AK289416.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000329697.10/
                                                  ENSP00000327453.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-161               AC141273.2         70445-70605
            162-281             AC141273.2         81959-82078
            282-346             AC141053.2         1-65
            347-557             AC141053.2         5287-5497
            558-765             AC141053.2         9258-9465
            766-909             AC141053.2         10814-10957
            910-1063            AC141053.2         12437-12590
            1064-1143           AC141053.2         16261-16340
            1144-1267           AC141053.2         16549-16672
            1268-1348           AC141053.2         18260-18340
            1349-1450           AC141053.2         19476-19577
            1451-1578           AC141053.2         21472-21599
            1579-1678           AC141053.2         21721-21820
            1679-1798           AC141053.2         23961-24080
            1799-2935           AC141053.2         27372-28508
FEATURES             Location/Qualifiers
     source          1..2935
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     gene            1..2935
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /note="acyl-CoA synthetase medium chain family member 2B"
                     /db_xref="GeneID:348158"
                     /db_xref="HGNC:HGNC:30931"
                     /db_xref="MIM:614359"
     exon            1..161
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            162..346
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     CDS             170..1903
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /EC_number="6.2.1.2"
                     /EC_number="6.2.1.25"
                     /note="isoform 1 is encoded by transcript variant 2;
                     acyl-CoA synthetase medium-chain family member 2;
                     acyl-coenzyme A synthetase ACSM2B, mitochondrial;
                     xenobiotic/medium-chain fatty acid:CoA ligase;
                     butyrate--CoA ligase 2B; butyryl-coenzyme A synthetase 2B;
                     middle-chain acyl-CoA synthetase 2B;
                     xenobiotic/medium-chain fatty acid-CoA ligase HXM-A;
                     benzoate--CoA ligase"
                     /codon_start=1
                     /product="acyl-coenzyme A synthetase ACSM2B, mitochondrial
                     isoform 1"
                     /protein_id="NP_001098539.1"
                     /db_xref="CCDS:CCDS10586.1"
                     /db_xref="GeneID:348158"
                     /db_xref="HGNC:HGNC:30931"
                     /db_xref="MIM:614359"
                     /translation="MHWLRKVQGLCTLWGTQMSSRTLYINSRQLVSLQWGHQEVPAKF
                     NFASDVLDHWADMEKAGKRLPSPALWWVNGKGKELMWNFRELSENSQQAANILSGACG
                     LQRGDRVAVMLPRVPEWWLVILGCIRAGLIFMPGTIQMKSTDILYRLQMSKAKAIVAG
                     DEVIQEVDTVASECPSLRIKLLVSEKSCDGWLNFKKLLNEASTTHHCVETGSQEASAI
                     YFTSGTSGLPKMAEHSYSSLGLKAKMDAGWTGLQASDIMWTISDTGWILNILGSLLES
                     WTLGACTFVHLLPKFDPLVILKTLSSYPIKSMMGAPIVYRMLLQQDLSSYKFPHLQNC
                     LAGGESLLPETLENWRAQTGLDIREFYGQTETGLTCMVSKTMKIKPGYMGTAASCYDV
                     QVIDDKGNVLPPGTEGDIGIRVKPIRPIGIFSGYVENPDKTAANIRGDFWLLGDRGIK
                     DEDGYFQFMGRADDIINSSGYRIGPSEVENALMKHPAVVETAVISSPDPVRGEVVKAF
                     VILASQFLSHDPEQLTKELQQHVKSVTAPYKYPRKIEFVLNLPKTVTGKIQRTKLRDK
                     EWKMSGKARAQ"
     exon            347..557
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            558..765
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            766..909
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1063
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1143
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1267
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            1268..1348
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1450
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..1578
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..1678
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            1679..1798
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     exon            1799..2935
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2295..2300
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /note="hexamer: AATAAA"
     polyA_site      2314
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /note="major polyA site"
     regulatory      2317..2322
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /note="hexamer: AATAAA"
     polyA_site      2336
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /note="major polyA site"
     regulatory      2338..2343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /note="hexamer: AAGAAA"
     polyA_site      2363
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
     regulatory      2884..2889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /note="hexamer: AATAAT"
     polyA_site      2900
                     /gene="ACSM2B"
                     /gene_synonym="ACSM2; HXMA; HYST1046"
                     /note="major polyA site"
ORIGIN      
        1 aatgattagc tgagctctct ttccgacagt gcagggattc tgaagctgtc tgcttgagtt
       61 actgtgctct cttccaaggc tgtaggagtt ctggagctgc tggctggaga ggagggtgga
      121 cgaagctctc tccagaaaga catcctgaga ggacttggca ggcctgaaca 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 caacatcctc tcgggagcct gtggcctgca
      481 gcgtggggat cgtgtggcag tgatgctgcc 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 tgcgatgggt 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 aacatcttgg gctcactttt ggaatcttgg acattaggag catgcacatt
     1021 tgttcatctc ttgccaaagt ttgacccact ggttattcta aagacactct ccagttatcc
     1081 aatcaagagt atgatgggtg cccctattgt ttaccggatg ttgctacagc aggatctttc
     1141 cagttacaag ttcccccatc tacagaactg cctcgctgga ggggagtccc ttcttccaga
     1201 aactctggag aactggaggg cccagacagg actggacatc cgagaattct atggccagac
     1261 agaaacggga ttaacttgca tggtttccaa gacaatgaaa atcaaaccag gatacatggg
     1321 aacggctgct tcctgttatg atgtacaggt tatagatgat aagggcaacg tcctgccccc
     1381 cggcacagaa ggagacattg gcatcagggt caaacccatc aggcctatag gcatcttctc
     1441 tggctatgtg gaaaatcccg acaagacagc agccaacatt cgaggagact tttggctcct
     1501 tggagaccgg ggaatcaaag atgaagatgg gtatttccag tttatgggac gggcagatga
     1561 tatcattaac tccagcgggt accggattgg accctcggag gtagagaatg cactgatgaa
     1621 gcaccctgct gtggttgaga cggctgtgat cagcagccca gaccccgtcc gaggagaggt
     1681 ggtgaaggca tttgtgatcc tggcctcgca gttcctatcc catgacccag aacagctcac
     1741 caaggagctg cagcagcatg tgaagtcagt gacagcccca tacaagtacc caagaaagat
     1801 agagtttgtc ttgaacctgc ccaagactgt cacagggaaa attcaacgaa ccaaacttcg
     1861 agacaaggag tggaagatgt ccggaaaagc ccgtgcgcag tgaggcgtct aggagacatt
     1921 catttggatt cccctcttct ttctctttct tttccctttg ggcccttggc cttactatga
     1981 tgatatgaga ttctttatga aagaacatga atgtaagttt tgtcttgccc tggttattag
     2041 cacaaaacat tactatgtta gatattgaaa taagaaaggg aaggaatgag agagagtgaa
     2101 aaggagaggg taacagaaaa agaggaaaga aaagtaagtc agggaaatgt taaaaactgc
     2161 aagagaaagc aattgaaaaa gaaataaagt agggagggaa ggcgagagga agcaagggaa
     2221 ggaggaagaa aggaaagagg agatgaaagg gggagaaaag atagaagaaa aataattgaa
     2281 gggagaatca gaaaaataaa gagaagaaag gaaagaaata aagagagaaa gagaaagaag
     2341 aaagagcaaa agaacacaag aaagaaagag agggagaaag agagggagaa agggagagaa
     2401 aaaaattgta aaaataaaaa tagtaaaaga aactgataaa gaaaagtcat ggaagacagg
     2461 aagaaaggaa gagagggaag taaagaggaa aacctataaa tattcccaca gatagacaaa
     2521 gtcaagcata aaactggagc ttgagaagga aatgaaagga aaagaagtgg tactttcttt
     2581 taccctagga gaagacctcc atacaggaag acttgtgtgt ggggctggga cattagaatc
     2641 atccgcaagt cactccaaac cttgaaactg tcagggtcag aggggaacca ccatttatta
     2701 agcatttgcc atgtgccagg cactgaccca gacacattat aaataccaca ttgtttcacc
     2761 tgtgtgtggc atctacagac cttagatcat agctgtgaga acaaagtaag cactgccaaa
     2821 gttatcagct acccatacct catgtttttg gtgttatcta ctcttcctag aatcaaatat
     2881 taaaataatt ttaaaaccaa gatcctgaca atagtcttta ggaaaaacaa aaaaa
//
