LOCUS       NM_001243279            4095 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens acyl-CoA synthetase family member 3 (ACSF3),
            transcript variant 4, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001243279
VERSION     NM_001243279.3
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 4095)
  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 4095)
  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 4095)
  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 4095)
  AUTHORS   Liu,Y., Chen,S.H., Jin,X. and Li,Y.M.
  TITLE     Analysis of differentially expressed genes and microRNAs in
            alcoholic liver disease
  JOURNAL   Int J Mol Med 31 (3), 547-554 (2013)
   PUBMED   23337955
  REMARK    GeneRIF: ACSF3 was significantly upregulated, and was involved in
            fatty acid and lipid metabolism and accelerated liver injury in
            alcoholic liver disease.
REFERENCE   5  (bases 1 to 4095)
  AUTHORS   Salaverria,I., Akasaka,T., Gesk,S., Szczepanowski,M., Burkhardt,B.,
            Harder,L., Damm-Welk,C., Oschlies,I., Klapper,W., Dyer,M.J. and
            Siebert,R.
  TITLE     The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal
            translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with
            germinal center phenotype
  JOURNAL   Genes Chromosomes Cancer 51 (4), 338-343 (2012)
   PUBMED   22420028
  REMARK    GeneRIF: data indicate that the CBFA2T3/ACSF3 locus is a novel
            recurrent oncogenic target of immunoglobulin heavy chain
            translocations, which might contribute to the pathogenesis of
            pediatric GC-derived B-cell lymphoma.
REFERENCE   6  (bases 1 to 4095)
  AUTHORS   Witkowski,A., Thweatt,J. and Smith,S.
  TITLE     Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies
            the chain extender units for mitochondrial fatty acid synthesis
  JOURNAL   J Biol Chem 286 (39), 33729-33736 (2011)
   PUBMED   21846720
  REMARK    GeneRIF: Mammalian ACSF3 protein is a malonyl-CoA synthetase that
            supplies the chain extender units for mitochondrial fatty acid
            synthesis.
REFERENCE   7  (bases 1 to 4095)
  AUTHORS   Alfares,A., Nunez,L.D., Al-Thihli,K., Mitchell,J., Melancon,S.,
            Anastasio,N., Ha,K.C., Majewski,J., Rosenblatt,D.S. and
            Braverman,N.
  TITLE     Combined malonic and methylmalonic aciduria: exome sequencing
            reveals mutations in the ACSF3 gene in patients with a non-classic
            phenotype
  JOURNAL   J Med Genet 48 (9), 602-605 (2011)
   PUBMED   21785126
  REMARK    GeneRIF: ACSF3 is a candidate gene for non-classical CMAMMA
            observed in our patients.
REFERENCE   8  (bases 1 to 4095)
  AUTHORS   Sloan,J.L., Johnston,J.J., Manoli,I., Chandler,R.J., Krause,C.,
            Carrillo-Carrasco,N., Chandrasekaran,S.D., Sysol,J.R., O'Brien,K.,
            Hauser,N.S., Sapp,J.C., Dorward,H.M., Huizing,M., Barshop,B.A.,
            Berry,S.A., James,P.M., Champaigne,N.L., de Lonlay,P.,
            Valayannopoulos,V., Geschwind,M.D., Gavrilov,D.K., Nyhan,W.L.,
            Biesecker,L.G. and Venditti,C.P.
  CONSRTM   NIH Intramural Sequencing Center Group
  TITLE     Exome sequencing identifies ACSF3 as a cause of combined malonic
            and methylmalonic aciduria
  JOURNAL   Nat Genet 43 (9), 883-886 (2011)
   PUBMED   21841779
  REMARK    GeneRIF: mutations in ACSF3, encoding a putative methylmalonyl-CoA
            and malonyl-CoA synthetase, were identified as a cause of combined
            malonic and methylmalonic aciduria.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 4095)
  AUTHORS   Chen,H., Kim,H.U., Weng,H. and Browse,J.
  TITLE     Malonyl-CoA synthetase, encoded by ACYL ACTIVATING ENZYME13, is
            essential for growth and development of Arabidopsis
  JOURNAL   Plant Cell 23 (6), 2247-2262 (2011)
   PUBMED   21642549
REFERENCE   10 (bases 1 to 4095)
  AUTHORS   Watkins,P.A., Maiguel,D., Jia,Z. and Pevsner,J.
  TITLE     Evidence for 26 distinct acyl-coenzyme A synthetase genes in the
            human genome
  JOURNAL   J Lipid Res 48 (12), 2736-2750 (2007)
   PUBMED   17762044
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM148793.1, BC028399.1,
            AC135782.4 and AC009113.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 1, 2019 this sequence version replaced NM_001243279.2.
            
            Summary: This gene encodes a member of the acyl-CoA synthetase
            family of enzymes that activate fatty acids by catalyzing the
            formation of a thioester linkage between fatty acids and coenzyme
            A. The encoded protein is localized to mitochondria, has high
            specificity for malonate and methylmalonate and possesses
            malonyl-CoA synthetase activity. Mutations in this gene are a cause
            of combined malonic and methylmalonic aciduria. Alternatively
            spliced transcript variants have been observed for this gene.
            [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 4 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 :: SRR14038193.831849.1,
                                           SRR18074969.2679710.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000614302.5/
                                                  ENSP00000479130.1
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                BM148793.1         44-71
            29-325              BC028399.1         8-304
            326-781             AC135782.4         134077-134532
            782-1451            BC028399.1         780-1449
            1452-1452           AC135782.4         147883-147883
            1453-2160           BC028399.1         1451-2158
            2161-4095           AC009113.8         110205-112139       c
FEATURES             Location/Qualifiers
     source          1..4095
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.3"
     gene            1..4095
                     /gene="ACSF3"
                     /note="acyl-CoA synthetase family member 3"
                     /db_xref="GeneID:197322"
                     /db_xref="HGNC:HGNC:27288"
                     /db_xref="MIM:614245"
     exon            1..145
                     /gene="ACSF3"
                     /inference="alignment:Splign:2.1.0"
     exon            146..318
                     /gene="ACSF3"
                     /inference="alignment:Splign:2.1.0"
     exon            319..1004
                     /gene="ACSF3"
                     /inference="alignment:Splign:2.1.0"
     CDS             339..2069
                     /gene="ACSF3"
                     /EC_number="6.2.1.76"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 4; acyl-CoA synthetase family member 3,
                     mitochondrial; malonyl-CoA synthetase; malonate--CoA
                     ligase ACSF3, mitochondrial"
                     /codon_start=1
                     /product="malonate--CoA ligase ACSF3, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_001230208.1"
                     /db_xref="CCDS:CCDS10974.1"
                     /db_xref="GeneID:197322"
                     /db_xref="HGNC:HGNC:27288"
                     /db_xref="MIM:614245"
                     /translation="MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSA
                     PVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQEICRLCGCVGGDLREERVSFLC
                     ANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV
                     RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQN
                     IRAVVTGLVHKWAWTKDDVILHVLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVW
                     EKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAA
                     LPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSE
                     NPQREACSYTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLD
                     GWFKTGDTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVIGVP
                     DMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDK
                     KALIRHFHPS"
     exon            1005..1160
                     /gene="ACSF3"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..1315
                     /gene="ACSF3"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1464
                     /gene="ACSF3"
                     /inference="alignment:Splign:2.1.0"
     exon            1465..1577
                     /gene="ACSF3"
                     /inference="alignment:Splign:2.1.0"
     exon            1578..1704
                     /gene="ACSF3"
                     /inference="alignment:Splign:2.1.0"
     exon            1705..1839
                     /gene="ACSF3"
                     /inference="alignment:Splign:2.1.0"
     exon            1840..1951
                     /gene="ACSF3"
                     /inference="alignment:Splign:2.1.0"
     exon            1952..4095
                     /gene="ACSF3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2425..2430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSF3"
                     /note="hexamer: AACAAA"
     polyA_site      2430
                     /gene="ACSF3"
                     /note="major polyA site"
     polyA_site      2450
                     /gene="ACSF3"
                     /note="major polyA site"
     polyA_site      3625
                     /gene="ACSF3"
     polyA_site      3735
                     /gene="ACSF3"
     regulatory      4073..4078
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSF3"
                     /note="hexamer: ATTAAA"
     polyA_site      4095
                     /gene="ACSF3"
ORIGIN      
        1 gttgggcgcc ggaactggtc cggcccgact cacgaccccg cgggacccgg ccggaacccg
       61 gcccgacccc ggcgcgcgcg cggcggagga cgaggaagag ttgtggcgag gcagatcctg
      121 ccccgtggcc gcggccgtct cgtaggtgtc ccaccggcct tccgggttcc agcgccaggc
      181 ctggtgcctg ccccaggagg atgagcattt gcattgcctg caccttatcg tgcccttcca
      241 cctgctgaag cagctgtgcc tgccgctctt gtgaactgcg aacttcccct tacctcctct
      301 ctctggctcg ggagctggct cggccgcctg tcagtgcaat gctgccccat gtggtgctca
      361 ccttccggcg cctgggctgc gccttggcgt cctgccggct ggcgcctgcg agacacagag
      421 gaagtggtct tctgcacaca gccccagtgg cccgctcgga caggagcgcc ccggtgttca
      481 cccgtgccct ggcctttggg gacagaatcg ccctggttga ccagcacggc cgccacacgt
      541 acagggagct ttattcccgc agccttcgcc tgtcccagga gatctgcagg ctctgcgggt
      601 gtgtcggcgg ggacctccgg gaggagaggg tctccttcct atgcgctaac gatgcctcct
      661 acgtcgtggc ccagtgggcg tcatggatga gtggcggtgt ggcagtcccc ctctacagga
      721 agcatcccgc ggcccagctg gagtatgtca tctgcgactc ccagagctct gtggtccttg
      781 ccagccagga gtacctggag ctcctgagcc cggtggtcag gaagctgggg gtcccgctgc
      841 tgccgctcac accagccatc tacactggag cagtagagga accggcagag gtcccggtcc
      901 cagagcaggg atggaggaac aagggcgcca tgatcatcta caccagtggg accacgggga
      961 ggcccaaggg cgtgctgagc acgcaccaaa acatcagggc tgtggtgacc gggctggtcc
     1021 acaagtgggc atggaccaaa gacgacgtga tcctccacgt gctcccgctg caccacgtcc
     1081 atggtgtggt caacgcgctg ctctgtcctc tctgggtggg agccacctgt gtgatgatgc
     1141 ctgagttcag ccctcagcag gtttgggaaa agttcttaag ttctgaaacg ccgcggatca
     1201 atgtctttat ggcagtgcct acaatataca ccaagctgat ggagtactac gacaggcatt
     1261 ttacccagcc gcacgcccag gatttcttgc gtgcagtttg tgaagaaaaa attaggctga
     1321 tggtctcagg ctcagctgcc ctgcccctcc cagtgctgga gaagtggaag aacatcacgg
     1381 gccacaccct gctggagcgg tatggcatga ccgagatcgg catggctctg tccgggcccc
     1441 tgaccactgc cgtgcgcctg ccaggttccg tggggacccc actgcctgga gtacaggtgc
     1501 gcattgtctc agaaaaccca cagagggaag cctgctccta caccatccac gcagagggag
     1561 acgagagggg gaccaaggtg accccagggt ttgaagaaaa ggagggggag ctgctggtga
     1621 ggggaccctc cgtgtttcga gaatactgga ataaaccaga agaaactaag agtgcattca
     1681 ccctggatgg ctggtttaag acaggggaca ccgtggtgtt taaggatggc cagtactgga
     1741 tccgaggccg gacctcagtg gacatcatca agactggagg ctacaaggtc agcgccctgg
     1801 aggtggagtg gcacctgctg gcccacccca gcatcacaga tgtggctgtg attggagttc
     1861 cggatatgac atggggccag cgggtcactg ctgtggtgac cctccgagaa ggacactcac
     1921 tgtcccacag ggagctcaaa gagtgggcca gaaatgtcct ggccccgtac gcggtgccct
     1981 cggagctggt gctggtggag gagatcccgc ggaaccagat gggcaagatt gacaagaagg
     2041 cgctcatcag gcacttccac ccctcatgac ccggcagact gggactgcgg gtctggtggg
     2101 gagcagcaga cgtccccttc acaccgagaa ccacgggggc ccgtccaaga cctggcctcc
     2161 cttaaacctg aaccccccaa atcaggtcac gtagaatcaa gaactgtttg ggatgaaatc
     2221 accatgtggg gtccccagcc tcgggccagt tgttgcagct caaggagacc gtccctggtg
     2281 tcacctctgc ctggtcaccg ccgacctcat ctgtgcagcg cggtgcagcc agcccctggc
     2341 cccacgtgct gaggcacctc ccgccccaca gtgccctgca gttgccaggc tctccagggc
     2401 aggtcccaga ggtttcccac aaaaaacaaa gactccactg gaggaaacaa gcccctgtcc
     2461 cacgccgtct gcacgtgcct gtgcctcacc cagagccagt gtctcccggc ccacatagga
     2521 ggtctgggca gccacccagg gggccctcct gggaggagct gagggttcac aagcctccca
     2581 gaaccagccc tgtcccatgg gttccgtgca tttcctggtg ctgctcttgg aggagagcag
     2641 ctcccactgt ggggacacct gccaccctgc acactactgt gtgtccatca gcatgtgtca
     2701 cagaaagtgc gtggacggat ggccccggag ctgctctgcc gtgaccctgc ctcacccccc
     2761 agcgcaggga ctttccaggt catctccaca ccagcccctc agccggtgaa ccctctctcc
     2821 catcaccgtc tccacccaga cccccacctg ccccatggcc cccatttcat gtctgtggct
     2881 caccagcttt tccccagacc cagctccgga gcccacaggc gtggccgatg cagaaacctc
     2941 aggaaggtgt gttgtgaatg ttgggtgcac ccacgttgca tttacttagc ggggccaatt
     3001 cagatgcaca ggggccacat gcagaatcca gaagtttctg gacaattttc agaagaatag
     3061 gctgcctcct ccccacagcc tgggggaagt aacagtcatc gcccagcagt gtctggcctg
     3121 aacttaccca gaacattctg cccccggaat gcacgtctga aagagtggcc agaaacgagt
     3181 gtgccgggca ggaggccagc cccatctcag gctcacgtgc ctctgacagg agaccagccc
     3241 catctcaggc tcacatgcct cgcggacagt tggacgtggc ctggggcccc tgctcacttg
     3301 agcatgtcgc ccaccaagct tgtctgaggc cacagagcag cgtcccagcc ctgttttcca
     3361 ggactggtgg gtgccccagt ccacggccct gccccacccg aactcctgcc tcacggtgtg
     3421 gccttgtgca tccccatggc ctgaccccgg gaacagtcag aggaaggggt cccgccctcc
     3481 cgccagaggc ctggacccaa gggaacggca gtcagagact acagtccaga cgtttgtgtc
     3541 taggccttgc tggtagctaa ggaaatgcct tctgttggga aaaggtcaaa tttaacatag
     3601 caaaattttt acttaattcc actaatttta catttgcatc tctctccttt aatcctgaaa
     3661 cttttgattc ctaaaaagct tacataatca tttgctttat ccgatagtat acatcagtat
     3721 atcatgcttt cgaaataatg agtgtaactt tctgctgaca atactacaaa ctacagaaag
     3781 cctggagctc attgaccaga aactgcagag agcctggagc tcgttgacca caaactacag
     3841 aaagcctgga gctcgttgac cagccggttg accagaatac ggtgctccaa ggacatgcgg
     3901 ttgaatgccg tgttctaaag tcacgagtga ctctccagct ggtccctgtg ccaggctggt
     3961 cggccttcgt gcacacagtc cgccagtgcc cagccaggcc cctggttccc ctctgctcca
     4021 ccagccgaga acaagcccgt cctggaggga actcatcctc tcctccctcc ccattaaagc
     4081 ccagtttatt cccca
//
