LOCUS       NM_017888               2796 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens acyl-CoA synthetase medium chain family member 5
            (ACSM5), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_017888 XM_937301 XM_943246
VERSION     NM_017888.3
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 2796)
  AUTHORS   Yang,L., Pham,K., Xi,Y., Jiang,S., Robertson,K.D. and Liu,C.
  TITLE     Acyl-CoA Synthetase Medium-Chain Family Member 5-Mediated Fatty
            Acid Metabolism Dysregulation Promotes the Progression of
            Hepatocellular Carcinoma
  JOURNAL   Am J Pathol 194 (10), 1951-1966 (2024)
   PUBMED   39069168
  REMARK    GeneRIF: Acyl-CoA Synthetase Medium-Chain Family Member 5-Mediated
            Fatty Acid Metabolism Dysregulation Promotes the Progression of
            Hepatocellular Carcinoma.
REFERENCE   2  (bases 1 to 2796)
  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   3  (bases 1 to 2796)
  AUTHORS   Cao,Y., Zhan,Y., Qiu,S., Chen,Z., Gong,K., Ni,S. and Duan,Y.
  TITLE     Integrative analysis of genome-wide DNA methylation and
            single-nucleotide polymorphism identified ACSM5 as a suppressor of
            lumbar ligamentum flavum hypertrophy
  JOURNAL   Arthritis Res Ther 23 (1), 251 (2021)
   PUBMED   34593020
  REMARK    GeneRIF: Integrative analysis of genome-wide DNA methylation and
            single-nucleotide polymorphism identified ACSM5 as a suppressor of
            lumbar ligamentum flavum hypertrophy.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2796)
  AUTHORS   Shin,S.Y., Fauman,E.B., Petersen,A.K., Krumsiek,J., Santos,R.,
            Huang,J., Arnold,M., Erte,I., Forgetta,V., Yang,T.P., Walter,K.,
            Menni,C., Chen,L., Vasquez,L., Valdes,A.M., Hyde,C.L., Wang,V.,
            Ziemek,D., Roberts,P., Xi,L., Grundberg,E., Waldenberger,M.,
            Richards,J.B., Mohney,R.P., Milburn,M.V., John,S.L., Trimmer,J.,
            Theis,F.J., Overington,J.P., Suhre,K., Brosnan,M.J., Gieger,C.,
            Kastenmuller,G., Spector,T.D. and Soranzo,N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   5  (bases 1 to 2796)
  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   6  (bases 1 to 2796)
  AUTHORS   Kottgen,A., Pattaro,C., Boger,C.A., Fuchsberger,C., Olden,M.,
            Glazer,N.L., Parsa,A., Gao,X., Yang,Q., Smith,A.V., O'Connell,J.R.,
            Li,M., Schmidt,H., Tanaka,T., Isaacs,A., Ketkar,S., Hwang,S.J.,
            Johnson,A.D., Dehghan,A., Teumer,A., Pare,G., Atkinson,E.J.,
            Zeller,T., Lohman,K., Cornelis,M.C., Probst-Hensch,N.M.,
            Kronenberg,F., Tonjes,A., Hayward,C., Aspelund,T., Eiriksdottir,G.,
            Launer,L.J., Harris,T.B., Rampersaud,E., Mitchell,B.D.,
            Arking,D.E., Boerwinkle,E., Struchalin,M., Cavalieri,M.,
            Singleton,A., Giallauria,F., Metter,J., de Boer,I.H.,
            Haritunians,T., Lumley,T., Siscovick,D., Psaty,B.M.,
            Zillikens,M.C., Oostra,B.A., Feitosa,M., Province,M., de
            Andrade,M., Turner,S.T., Schillert,A., Ziegler,A., Wild,P.S.,
            Schnabel,R.B., Wilde,S., Munzel,T.F., Leak,T.S., Illig,T.,
            Klopp,N., Meisinger,C., Wichmann,H.E., Koenig,W., Zgaga,L.,
            Zemunik,T., Kolcic,I., Minelli,C., Hu,F.B., Johansson,A., Igl,W.,
            Zaboli,G., Wild,S.H., Wright,A.F., Campbell,H., Ellinghaus,D.,
            Schreiber,S., Aulchenko,Y.S., Felix,J.F., Rivadeneira,F.,
            Uitterlinden,A.G., Hofman,A., Imboden,M., Nitsch,D.,
            Brandstatter,A., Kollerits,B., Kedenko,L., Magi,R., Stumvoll,M.,
            Kovacs,P., Boban,M., Campbell,S., Endlich,K., Volzke,H.,
            Kroemer,H.K., Nauck,M., Volker,U., Polasek,O., Vitart,V.,
            Badola,S., Parker,A.N., Ridker,P.M., Kardia,S.L., Blankenberg,S.,
            Liu,Y., Curhan,G.C., Franke,A., Rochat,T., Paulweber,B.,
            Prokopenko,I., Wang,W., Gudnason,V., Shuldiner,A.R., Coresh,J.,
            Schmidt,R., Ferrucci,L., Shlipak,M.G., van Duijn,C.M., Borecki,I.,
            Kramer,B.K., Rudan,I., Gyllensten,U., Wilson,J.F., Witteman,J.C.,
            Pramstaller,P.P., Rettig,R., Hastie,N., Chasman,D.I., Kao,W.H.,
            Heid,I.M. and Fox,C.S.
  TITLE     New loci associated with kidney function and chronic kidney disease
  JOURNAL   Nat Genet 42 (5), 376-384 (2010)
   PUBMED   20383146
REFERENCE   7  (bases 1 to 2796)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC016703.1, AK000588.1, BX505437.1, AV648626.1, AV696798.1,
            AV653851.1 and AC137056.3.
            
            On Nov 23, 2018 this sequence version replaced NM_017888.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC068516.1, SRR1660803.108749.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000331849.8/
                                                  ENSP00000327916.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-562               BC016703.1         5-566
            563-838             AK000588.1         560-835
            839-865             BX505437.1         338-364
            866-1164            AK000588.1         866-1164
            1165-1272           AV648626.1         358-465
            1273-1406           AK000588.1         1273-1406
            1407-1556           AV696798.1         155-304
            1557-1823           AK000588.1         1557-1823
            1824-2100           AV653851.1         106-382
            2101-2418           AK000588.1         2102-2419
            2419-2428           AV653851.1         700-709
            2429-2796           AC137056.3         44436-44803
FEATURES             Location/Qualifiers
     source          1..2796
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.3"
     gene            1..2796
                     /gene="ACSM5"
                     /note="acyl-CoA synthetase medium chain family member 5"
                     /db_xref="GeneID:54988"
                     /db_xref="HGNC:HGNC:26060"
                     /db_xref="MIM:614361"
     exon            1..132
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            133..351
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..1887
                     /gene="ACSM5"
                     /EC_number="6.2.1.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     acyl-coenzyme A synthetase ACSM5, mitochondrial"
                     /codon_start=1
                     /product="acyl-coenzyme A synthetase ACSM5, mitochondrial
                     isoform 1"
                     /protein_id="NP_060358.2"
                     /db_xref="CCDS:CCDS10585.1"
                     /db_xref="GeneID:54988"
                     /db_xref="HGNC:HGNC:26060"
                     /db_xref="MIM:614361"
                     /translation="MRPWLRHLVLQALRNSRAFCGSHGKPAPLPVPQKIVATWEAISL
                     GRQLVPEYFNFAHDVLDVWSRLEEAGHRPPNPAFWWVNGTGAEIKWSFEELGKQSRKA
                     ANVLGGACGLQPGDRMMLVLPRLPEWWLVSVACMRTGTVMIPGVTQLTEKDLKYRLQA
                     SRAKSIITSDSLAPRVDAISAECPSLQTKLLVSDSSRPGWLNFRELLREASTEHNCMR
                     TKSRDPLAIYFTSGTTGAPKMVEHSQSSYGLGFVASGRRWVALTESDIFWNTTDTGWV
                     KAAWTLFSAWPNGSCIFVHELPRVDAKVILNTLSKFPITTLCCVPTIFRLLVQEDLTR
                     YQFQSLRHCLTGGEALNPDVREKWKHQTGVELYEGYGQSETVVICANPKGMKIKSGSM
                     GKASPPYDVQIVDDEGNVLPPGEEGNVAVRIRPTRPFCFFNCYLDNPEKTAASEQGDF
                     YITGDRARMDKDGYFWFMGRNDDVINSSSYRIGPVEVESALAEHPAVLESAVVSSPDP
                     IRGEVVKAFIVLTPAYSSHDPEALTRELQEHVKRVTAPYKYPRKVAFVSELPKTVSGK
                     IQRSKLRSQEWGK"
     exon            352..562
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            563..770
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            771..914
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            915..1068
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1148
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1149..1272
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1353
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1354..1455
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1456..1583
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1584..1683
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1803
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     exon            1804..2796
                     /gene="ACSM5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2770..2775
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACSM5"
                     /note="hexamer: AATGAA"
     polyA_site      2796
                     /gene="ACSM5"
                     /note="major polyA site"
ORIGIN      
        1 gcatttgggg ctgaagttcc ctgtgggagg ctgttttctg agggagctga gtgtttacag
       61 ccactcagcc ctgctctgct cagctgaagc agaaaacaga gaccttttgc attactttgg
      121 ttcaagagca agacaggagg cgactgcatg agaccatggc tgagacacct agtcctccag
      181 gcactgagga actccagggc attctgtggg tctcatggga agccagcacc tctacctgtt
      241 cctcagaaga tcgtggccac ctgggaagcc atcagcctgg gaaggcagct ggtgcctgag
      301 tacttcaact tcgcccatga tgtgctggat gtgtggagtc ggctggaaga ggctggacac
      361 cgccccccaa atcctgcctt ctggtgggtc aatggcacag gagcagagat caagtggagc
      421 tttgaggagc tggggaagca gtccaggaag gcagccaatg tgctgggggg tgcatgcggc
      481 ctgcagcctg gggacagaat gatgctggta ctcccacggc tcccggagtg gtggctggtc
      541 agtgtggctt gcatgcggac agggactgtg atgattccgg gtgtgactca gctgacagag
      601 aaggacctca agtaccggct gcaggcgtcc agggccaagt ccattatcac cagtgactcc
      661 ctagctccaa gggtggatgc catcagtgcc gaatgcccct ccctccagac caagctgctg
      721 gtgtcagaca gcagtcggcc aggctggttg aacttcaggg aactcctccg ggaggcttct
      781 acagagcaca actgcatgag gacaaagagt cgagacccgc tggccatcta ctttaccagc
      841 ggaaccaccg gggcccccaa gatggtcgag cactcccaga gcagctacgg actgggtttt
      901 gtggccagcg gaagacggtg ggtggccttg accgaatctg acatcttctg gaacacgact
      961 gacactggct gggtgaaggc agcctggact ctcttctctg cctggcctaa tggatcttgc
     1021 atttttgtgc atgagctgcc ccgagttgat gccaaagtta tcctgaatac tctctccaaa
     1081 ttcccgataa ccaccctctg ctgtgtccca accatctttc ggctgcttgt gcaggaggat
     1141 ctgaccaggt accagtttca gagcctgagg cactgtctga ccggaggaga ggccctcaac
     1201 cctgacgtga gggagaagtg gaaacaccag actggtgtgg agctgtacga aggctatggc
     1261 cagtctgaaa cggttgtcat ctgtgccaat ccaaaaggca tgaaaatcaa gtctggatcc
     1321 atggggaagg cgtccccacc ctacgatgtg cagattgtgg atgatgaggg caacgtcctg
     1381 cctcctggag aagaggggaa tgttgccgtc cgtatcagac ccactcggcc cttctgtttc
     1441 ttcaattgct atttggacaa tcctgagaag acagctgcat cagaacaagg ggacttttac
     1501 atcacagggg accgagctcg catggacaag gatggctact tttggttcat gggaagaaac
     1561 gacgatgtga tcaattcttc aagctaccgg atcgggcctg ttgaagtgga aagtgccctg
     1621 gcagagcatc ctgctgtcct ggagtcggct gtggtcagca gcccagaccc catcagggga
     1681 gaggtggtaa aggcatttat agtccttact ccagcctact cctctcatga cccagaggca
     1741 ctaacgcggg aactccagga gcatgtgaaa agggtgactg ctccatacaa ataccccagg
     1801 aaggtggcct ttgtttcaga actgccaaag acggtttctg gaaagatcca aaggagtaaa
     1861 ttgcgaagtc aggagtgggg gaaatgaggt gcaccccagg aaggccccgt agacctccga
     1921 agactccaca agaaactaat ggatcactgg tcagtcccca tggggagcat catctcttcg
     1981 accctaaaga tgtcaaaggt gtgcagcttc caaacggcat ccccaggatc actgggcaat
     2041 gctggaaaga gcaaaagaat atcattggcc ctgatcacat agatgctgcg ccgcctagca
     2101 aatgcttggt ggttcgactt ctccctctgt ctgggggcag gctcagcatc tgcccactgg
     2161 tctcactaag agctttcaga tttccctcca taggacaggt taccatagac ttggggcact
     2221 tgtgggtact cattttctgc cagtgggaat gtaaaggctt catcctttgt atgtaaccat
     2281 ttggcaaaag tatgcaggaa cataaaataa aatatccttt agctcagaaa ttctatcttc
     2341 gggagtcacc acaaaagaaa aaaatcaaaa tgcagaaaat gtgtggtgca ctaagatgat
     2401 cacacagcat taaaactaaa aaaaaaaaag aaaaaattaa caattaacat ccaaacaaca
     2461 aggaaatgat taacaaaatt gtagtagatt aactcaatta catatgatgt agccactaaa
     2521 atatttgaga gcagtttagt atgtcttggg aaaagtgtaa gctatattaa ttttaaaaat
     2581 cagagcaaaa atattcatac tggagaatcc caactctgaa aaataaaggg aaaactgtgg
     2641 ttaattgtaa tcctcctgga gattgaggag ggagggagag aaaataatgg atggtagttt
     2701 ttcttcttcc tttttccatt acatttctgt attttccaag tttttgtacg aagcacatac
     2761 aactatttta atgaaaaagt tatgttaaag aaagca
//
