LOCUS       NM_001101667            2804 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript
            variant 2, mRNA.
ACCESSION   NM_001101667
VERSION     NM_001101667.2
KEYWORDS    RefSeq.
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 2804)
  AUTHORS   Kim,J.T., Won,S.Y., Kang,K., Kim,S.H., Park,M.S., Choi,K.H.,
            Nam,T.S., Denis,S.W., Ferdinandusse,S., Lee,J.E., Choi,S.Y. and
            Kim,M.K.
  TITLE     ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous
            Vasospasm of Internal Carotid Artery
  JOURNAL   Transl Stroke Res 11 (5), 1041-1051 (2020)
   PUBMED   31975215
  REMARK    GeneRIF: ACOX3 Dysfunction as a Potential Cause of Recurrent
            Spontaneous Vasospasm of Internal Carotid Artery.
REFERENCE   2  (bases 1 to 2804)
  AUTHORS   Wade,R., Di Bernardo,M.C., Richards,S., Rossi,D.,
            Crowther-Swanepoel,D., Gaidano,G., Oscier,D.G., Catovsky,D. and
            Houlston,R.S.
  TITLE     Association between single nucleotide polymorphism-genotype and
            outcome of patients with chronic lymphocytic leukemia in a
            randomized chemotherapy trial
  JOURNAL   Haematologica 96 (10), 1496-1503 (2011)
   PUBMED   21659360
REFERENCE   3  (bases 1 to 2804)
  AUTHORS   Shimada,M., Miyagawa,T., Kawashima,M., Tanaka,S., Honda,Y.,
            Honda,M. and Tokunaga,K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2804)
  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   5  (bases 1 to 2804)
  AUTHORS   Ghosh,D. and Berg,J.M.
  TITLE     A proteome-wide perspective on peroxisome targeting signal
            1(PTS1)-Pex5p affinities
  JOURNAL   J Am Chem Soc 132 (11), 3973-3979 (2010)
   PUBMED   20178365
REFERENCE   6  (bases 1 to 2804)
  AUTHORS   Zha,S., Ferdinandusse,S., Hicks,J.L., Denis,S., Dunn,T.A.,
            Wanders,R.J., Luo,J., De Marzo,A.M. and Isaacs,W.B.
  TITLE     Peroxisomal branched chain fatty acid beta-oxidation pathway is
            upregulated in prostate cancer
  JOURNAL   Prostate 63 (4), 316-323 (2005)
   PUBMED   15599942
  REMARK    GeneRIF: ACOX3, which is expressed at extremely low level in other
            human organs studied including the liver, might contribute
            significantly to peroxisomal branched chain fatty acid
            beta-oxidation in human prostate tissue and some prostate cancer
            cell lines
REFERENCE   7  (bases 1 to 2804)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   8  (bases 1 to 2804)
  AUTHORS   Vanhooren,J.C., Marynen,P., Mannaerts,G.P. and Van Veldhoven,P.P.
  TITLE     Evidence for the existence of a pristanoyl-CoA oxidase gene in man
  JOURNAL   Biochem J 325 (Pt 3) (Pt 3), 593-599 (1997)
   PUBMED   9271077
REFERENCE   9  (bases 1 to 2804)
  AUTHORS   Baumgart,E., Vanhooren,J.C., Fransen,M., Mannaerts,G.P. and Van
            Veldhoven,P.P.
  TITLE     Mammalian peroxisomal acyl-CoA oxidases. III. Molecular
            characterization of human branched chain fatty acyl-CoA oxidase
  JOURNAL   Ann N Y Acad Sci 804, 678-679 (1996)
   PUBMED   8993592
REFERENCE   10 (bases 1 to 2804)
  AUTHORS   Vanhove,G.F., Van Veldhoven,P.P., Fransen,M., Denis,S.,
            Eyssen,H.J., Wanders,R.J. and Mannaerts,G.P.
  TITLE     The CoA esters of 2-methyl-branched chain fatty acids and of the
            bile acid intermediates di- and trihydroxycoprostanic acids are
            oxidized by one single peroxisomal branched chain acyl-CoA oxidase
            in human liver and kidney
  JOURNAL   J Biol Chem 268 (14), 10335-10344 (1993)
   PUBMED   8387517
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104825.4.
            
            On Nov 1, 2019 this sequence version replaced NM_001101667.1.
            
            Summary: Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA
            oxidase (ACOX3)is involved in the desaturation of 2-methyl branched
            fatty acids in peroxisomes.  Unlike the rat homolog, the human gene
            is expressed in very low amounts in liver such that its mRNA was
            undetectable by routine Northern-blot analysis or its product by
            immunoblotting or by enzyme activity measurements.  However the
            human cDNA encoding a 700 amino acid protein with a peroxisomal
            targeting C-terminal tripeptide S-K-L was isolated and is thought
            to be expressed under special conditions such as specific
            developmental stages or in a tissue specific manner in tissues that
            have not yet been examined. [provided by RefSeq, Jul 2008].
            
            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 :: AK225080.1, BC017053.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-76                AC104825.4         121201-121276       c
            77-234              AC104825.4         96931-97088         c
            235-468             AC104825.4         96319-96552         c
            469-543             AC104825.4         95407-95481         c
            544-633             AC104825.4         94845-94934         c
            634-777             AC104825.4         90765-90908         c
            778-866             AC104825.4         86508-86596         c
            867-963             AC104825.4         80109-80205         c
            964-1146            AC104825.4         77490-77672         c
            1147-1269           AC104825.4         75173-75295         c
            1270-1390           AC104825.4         72886-73006         c
            1391-1513           AC104825.4         70165-70287         c
            1514-1627           AC104825.4         69726-69839         c
            1628-1743           AC104825.4         62045-62160         c
            1744-1918           AC104825.4         55531-55705         c
            1919-2005           AC104825.4         51461-51547         c
            2006-2804           AC104825.4         46835-47633         c
FEATURES             Location/Qualifiers
     source          1..2804
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.1"
     gene            1..2804
                     /gene="ACOX3"
                     /note="acyl-CoA oxidase 3, pristanoyl"
                     /db_xref="GeneID:8310"
                     /db_xref="HGNC:HGNC:121"
                     /db_xref="MIM:603402"
     exon            1..76
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            77..234
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..1965
                     /gene="ACOX3"
                     /EC_number="1.3.3.6"
                     /note="isoform b is encoded by transcript variant 2;
                     acyl-Coenzyme A oxidase 3, pristanoyl; peroxisomal
                     acyl-coenzyme A oxidase 3; BRCACox; pristanoyl-CoA
                     oxidase; branched-chain acyl-CoA oxidase"
                     /codon_start=1
                     /product="peroxisomal acyl-coenzyme A oxidase 3 isoform b"
                     /protein_id="NP_001095137.1"
                     /db_xref="CCDS:CCDS47017.1"
                     /db_xref="GeneID:8310"
                     /db_xref="HGNC:HGNC:121"
                     /db_xref="MIM:603402"
                     /translation="MASTVEGGDTALLPEFPRGPLDAYRARASFSWKELALFTEGEGM
                     LRFKKTIFSALENDPLFARSPGADLSLEKYRELNFLRCKRIFEYDFLSVEDMFKSPLK
                     VPALIQCLGMYDSSLAAKYLLHSLVFGSAVYSSGSERHLTYIQKIFRMEIFGCFALTE
                     LSHGSNTKAIRTTAHYDPATEEFIIHSPDFEAAKFWVGNMGKTATHAVVFAKLCVPGD
                     QCHGLHPFIVQIRDPKTLLPMPGVMVGDIGKKLGQNGLDNGFAMFHKVRVPRQSLLNR
                     MGDVTPEGTYVSPFKDVRQRFGASLGSLSSGRVSIVSLAILNLKLAVAIALRFSATRR
                     QFGPTEEEEIPVLEYPMQQWRLLPYLAAVYALDHFSKSLFLDLVELQRGLASGDRSAR
                     QAELGREIHALASASKPLASWTTQQGIQECREACGGHGYLAMNRLGVLRDDNDPNCTY
                     EGDNNILLQQTSNYLLGLLAHQVHDGACFRSPLKSVDFLDAYPGILDQKFEVSSVADC
                     LDSAVALAAYKWLVCYLLRETYQKLNQEKRSGSSDFEARNKCQVSHGRPLALAFVELT
                     VVQRFHEHVHQPSVPPSLRAVLGRLSALYALWSLSRHAALLYRAERRCSCPGRRDRSS
                     "
     exon            235..468
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            469..543
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            544..633
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            634..777
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            778..866
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            867..963
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1146
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1269
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1390
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1513
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1627
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1628..1743
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..1918
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            1919..2005
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     exon            2006..2804
                     /gene="ACOX3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2444..2449
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACOX3"
                     /note="hexamer: AGTAAA"
     polyA_site      2482
                     /gene="ACOX3"
                     /note="major polyA site"
     polyA_site      2655
                     /gene="ACOX3"
     polyA_site      2742
                     /gene="ACOX3"
     polyA_site      2804
                     /gene="ACOX3"
ORIGIN      
        1 aaatgagaat ggcgccgctg gagatccttt cctgcttttg gtttccctgg caggggttga
       61 actgtggagt gtgtgggctc ttatcacgcg atggcatcca ctgtggaagg aggcgacaca
      121 gctctgctcc cagaattccc cagggggccc ctcgatgcct accgagcaag agcgtccttc
      181 agctggaagg agctggcgct gttcacggaa ggggagggca tgctccgctt taagaaaacc
      241 atcttctcag ctcttgagaa tgaccctctt ttcgctcgtt cccctggagc cgatctgtcc
      301 ttggagaagt atcgcgagct gaacttcctt cgatgcaagc ggatcttcga gtatgacttc
      361 ctcagtgtcg aagacatgtt caagagccct ctgaaggtcc ccgccttgat tcagtgcctg
      421 ggcatgtatg actcttctct ggctgccaag tacctcctcc atagcttggt ttttggatca
      481 gcagtttaca gttctggttc tgaaagacat ctcacatata ttcaaaagat cttcaggatg
      541 gagatttttg gatgttttgc tctgaccgaa ttaagccacg gcagtaatac caaggccatt
      601 cgcacaactg cccactacga tcctgccact gaggaattca tcatacattc ccctgatttc
      661 gaagctgcca agttttgggt tggcaacatg ggcaagacag ccactcacgc ggtggtgttt
      721 gctaagctgt gtgtgccagg ggaccagtgc catgggctgc atccctttat cgtgcagatc
      781 cgggacccga agacccttct tcccatgcct ggagtgatgg ttggcgacat aggaaaaaaa
      841 ctcgggcaga acggtctgga taatggtttc gccatgttcc acaaggtcag agttcctcgc
      901 cagagccttc tgaaccggat gggagacgtc acccccgagg gcacctatgt cagccccttt
      961 aaggacgtca ggcagcgctt tggagcgtcc ctggggagcc tgtcctcggg ccgggtctcc
     1021 atcgtgagcc tggccatcct taacctaaag ctggccgtgg ccatcgctct tcgcttctca
     1081 gccactcggc gtcagtttgg acccacagag gaggaggaaa taccagtgct tgagtatcca
     1141 atgcagcaat ggcgcttgct tccatatctg gcagctgtct acgccttaga ccatttctcc
     1201 aagtcgctct tcctggacct ggtggagctc cagcgaggac ttgcatcggg agaccgcagc
     1261 gccagacagg cagagcttgg acgtgagatc cacgccctgg catcggccag caagcccctg
     1321 gcctcgtgga ccacccagca aggaattcag gaatgccggg aggcgtgtgg aggacacggc
     1381 tatctggcca tgaaccggtt gggtgtcctt agagatgaca acgatcccaa ctgcacatac
     1441 gaaggtgaca acaacatcct gctgcagcag acaagcaact atttgctggg tctcctggca
     1501 caccaggtcc acgatggagc ttgcttccgc agtccgctga agtcagtgga ctttctggac
     1561 gcctatcccg gcatccttga ccagaagttt gaggtctcca gtgttgccga ctgcttggac
     1621 tctgcagtcg ccctggcagc atacaagtgg ctggtttgct acctgctccg agagacttat
     1681 caaaaattaa accaagagaa aagatcagga agcagtgact ttgaagcaag gaacaaatgc
     1741 caggtgtccc acggccgtcc gttggcgctg gccttcgtgg agctcacggt ggtccagagg
     1801 ttccacgagc acgtgcacca gccttccgtg ccgccctcgc tgcgggccgt gctggggcgg
     1861 ctcagtgctc tgtacgccct gtggtccctg agccgccacg cggccctgct ctaccgagct
     1921 gaaagacgat gcagttgccc tggtagacgt gatcgctcct cctgactttg ttctggactc
     1981 accgattggc agagccgacg gcgagctcta caaaaacctc tggggcgctg tcctgcagga
     2041 aagcaaggtg ttggagcggg catcctggtg gccagagttt tctgtgaaca aacctgtcat
     2101 aggaagtctg aaatcgaagc tctagtggga ctggcacaca ttcagccaag tctaatgaaa
     2161 cgaagggaac taatcagacg tggacctcaa cttctgattc cagaacacgc cggagattgc
     2221 tgctgctttc tgagcccgca cctgtgcgcc taaactgctg attggcctca actgcccagg
     2281 cggacgggag ggaggcaccc ggccggctgg actaatctgg gatcgcggtg atttgcagcg
     2341 tggaaaagaa atgcagatga tcatgtctac ctgatgcgcc gtgggttttt tgataattag
     2401 aatttcgcac attcagtttt cagggttcag ctcctttctc taaagtaaac agcccattgt
     2461 cagggatctt ctggtcagac aacctgtgat tcatctagat tttttaccga gctccacttc
     2521 attgagaagt caatgatgcc agtctggttc tttgtcaact ctccctcggc tttgtcacat
     2581 aattgaatta tgtcataacc ttattaattt gcacatagat catctgaatg tcgtggttta
     2641 agacttaagg aggaacatct gtttgattac tttcttttgt ggaactggaa atttccatcg
     2701 aggaaatgtt tttttaaaaa gtctaatgat ttgaatgggc aattcagtct ccaaccgccc
     2761 ccctccccct gccgccagtt atatacaaat cactttattg gtaa
//
