LOCUS       NM_002858               3604 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily D member 3 (ABCD3),
            transcript variant 1, mRNA.
ACCESSION   NM_002858
VERSION     NM_002858.4
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 3604)
  AUTHORS   Tawbeh,A., Gondcaille,C., Trompier,D. and Savary,S.
  TITLE     Peroxisomal ABC Transporters: An Update
  JOURNAL   Int J Mol Sci 22 (11), 6093 (2021)
   PUBMED   34198763
  REMARK    GeneRIF: Peroxisomal ABC Transporters: An Update.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3604)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3604)
  AUTHORS   Violante,S., Achetib,N., van Roermund,C.W.T., Hagen,J., Dodatko,T.,
            Vaz,F.M., Waterham,H.R., Chen,H., Baes,M., Yu,C., Argmann,C.A. and
            Houten,S.M.
  TITLE     Peroxisomes can oxidize medium- and long-chain fatty acids through
            a pathway involving ABCD3 and HSD17B4
  JOURNAL   FASEB J 33 (3), 4355-4364 (2019)
   PUBMED   30540494
  REMARK    GeneRIF: In HEK293 cells, the D-bifunctional protein (HSD17B4) and
            the peroxisomal ABC transporter ABCD3 are essential in peroxisomal
            oxidation of lauric and palmitic acid.
REFERENCE   4  (bases 1 to 3604)
  AUTHORS   Okamoto,T., Kawaguchi,K., Watanabe,S., Agustina,R., Ikejima,T.,
            Ikeda,K., Nakano,M., Morita,M. and Imanaka,T.
  TITLE     Characterization of human ATP-binding cassette protein subfamily D
            reconstituted into proteoliposomes
  JOURNAL   Biochem Biophys Res Commun 496 (4), 1122-1127 (2018)
   PUBMED   29397936
REFERENCE   5  (bases 1 to 3604)
  AUTHORS   Kawaguchi,K. and Morita,M.
  TITLE     ABC Transporter Subfamily D: Distinct Differences in Behavior
            between ABCD1-3 and ABCD4 in Subcellular Localization, Function,
            and Human Disease
  JOURNAL   Biomed Res Int 2016, 6786245 (2016)
   PUBMED   27766264
  REMARK    GeneRIF: ABCD1 and ABCD2 are involved in the transport of long and
            very long chain fatty acids (VLCFA) or their CoA-derivatives into
            peroxisomes with different substrate specificities, while ABCD3 is
            involved in the transport of branched chain acyl-CoA into
            peroxisomes.ABCD4 is deduced to take part in the transport of
            vitamin B12 from lysosomes into the cytosol.
            Review article
REFERENCE   6  (bases 1 to 3604)
  AUTHORS   Gartner,J. and Valle,D.
  TITLE     The 70 kDa peroxisomal membrane protein: an ATP-binding cassette
            transporter protein involved in peroxisome biogenesis
  JOURNAL   Semin Cell Biol 4 (1), 45-52 (1993)
   PUBMED   8453064
  REMARK    Review article
REFERENCE   7  (bases 1 to 3604)
  AUTHORS   Gartner,J., Kearns,W., Rosenberg,C., Pearson,P., Copeland,N.G.,
            Gilbert,D.J., Jenkins,N.A. and Valle,D.
  TITLE     Localization of the 70-kDa peroxisomal membrane protein to human
            1p21-p22 and mouse 3
  JOURNAL   Genomics 15 (2), 412-414 (1993)
   PUBMED   8449508
REFERENCE   8  (bases 1 to 3604)
  AUTHORS   Gartner,J., Obie,C., Moser,H. and Valle,D.
  TITLE     A polymorphic synonymous mutation (K54K) in the human 70 kD
            peroxisomal membrane protein gene (PMP1)
  JOURNAL   Hum Mol Genet 1 (8), 654 (1992)
   PUBMED   1301179
REFERENCE   9  (bases 1 to 3604)
  AUTHORS   Gartner,J., Moser,H. and Valle,D.
  TITLE     Mutations in the 70K peroxisomal membrane protein gene in Zellweger
            syndrome
  JOURNAL   Nat Genet 1 (1), 16-23 (1992)
   PUBMED   1301993
REFERENCE   10 (bases 1 to 3604)
  AUTHORS   Kamijo,K., Kamijo,T., Ueno,I., Osumi,T. and Hashimoto,T.
  TITLE     Nucleotide sequence of the human 70 kDa peroxisomal membrane
            protein: a member of ATP-binding cassette transporters
  JOURNAL   Biochim Biophys Acta 1129 (3), 323-327 (1992)
   PUBMED   1536884
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC317792.1, M81182.1 and
            BC068509.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002858.3.
            
            Summary: The protein encoded by this gene is a member of the
            superfamily of ATP-binding cassette (ABC) transporters. ABC
            proteins transport various molecules across extra- and
            intra-cellular membranes. ABC genes are divided into seven distinct
            subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This
            protein is a member of the ALD subfamily, which is involved in
            peroxisomal import of fatty acids and/or fatty acyl-CoAs in the
            organelle. All known peroxisomal ABC transporters are half
            transporters which require a partner half transporter molecule to
            form a functional homodimeric or heterodimeric transporter. This
            peroxisomal membrane protein likely plays an important role in
            peroxisome biogenesis. Mutations have been associated with some
            forms of Zellweger syndrome, a heterogeneous group of peroxisome
            assembly disorders. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            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 :: SRR1660807.189353.1,
                                           SRR1660809.189092.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370214.9/ ENSP00000359233.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-489               DC317792.1         91-579
            490-2180            M81182.1           400-2090
            2181-3455           BC068509.1         1824-3098
            3456-3604           BC068509.1         3101-3249
FEATURES             Location/Qualifiers
     source          1..3604
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.3"
     gene            1..3604
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /note="ATP binding cassette subfamily D member 3"
                     /db_xref="GeneID:5825"
                     /db_xref="HGNC:HGNC:67"
                     /db_xref="MIM:170995"
     exon            1..200
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..2070
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /note="isoform a is encoded by transcript variant 1;
                     Peroxisomal membrane protein-1 (70kD); peroxisomal
                     membrane protein 1 (70kD, Zellweger syndrome); ATP-binding
                     cassette sub-family D member 3; dJ824O18.1 (ATP-binding
                     cassette, sub-family D (ALD), member 3 (PMP70, PXMP1)); 70
                     kDa peroxisomal membrane protein; peroxisomal membrane
                     protein 70 kDa"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family D member 3
                     isoform a"
                     /protein_id="NP_002849.1"
                     /db_xref="CCDS:CCDS749.1"
                     /db_xref="GeneID:5825"
                     /db_xref="HGNC:HGNC:67"
                     /db_xref="MIM:170995"
                     /translation="MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGKKSGKPP
                     LQNNEKEGKKERAVVDKVFFSRLIQILKIMVPRTFCKETGYLVLIAVMLVSRTYCDVW
                     MIQNGTLIESGIIGRSRKDFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTK
                     YLYEEYLQAFTYYKMGNLDNRIANPDQLLTQDVEKFCNSVVDLYSNLSKPFLDIVLYI
                     FKLTSAIGAQGPASMMAYLVVSGLFLTRLRRPIGKMTITEQKYEGEYRYVNSRLITNS
                     EEIAFYNGNKREKQTVHSVFRKLVEHLHNFILFRFSMGFIDSIIAKYLATVVGYLVVS
                     RPFLDLSHPRHLKSTHSELLEDYYQSGRMLLRMSQALGRIVLAGREMTRLAGFTARIT
                     ELMQVLKDLNHGKYERTMVSQQEKGIEGVQVIPLIPGAGEIIIADNIIKFDHVPLATP
                     NGDVLIRDLNFEVRSGANVLICGPNGCGKSSLFRVLGELWPLFGGRLTKPERGKLFYV
                     PQRPYMTLGTLRDQVIYPDGREDQKRKGISDLVLKEYLDNVQLGHILEREGGWDSVQD
                     WMDVLSGGEKQRMAMARLFYHKPQFAILDECTSAVSVDVEGYIYSHCRKVGITLFTVS
                     HRKSLWKHHEYYLHMDGRGNYEFKQITEDTVEFGS"
     exon            201..237
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            238..336
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            337..425
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            426..495
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            496..593
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            594..717
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            718..774
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            775..917
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            918..987
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1057
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1155
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..1247
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1339
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1340..1412
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..1476
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1477..1554
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1555..1620
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1621..1710
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1711..1830
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1831..1935
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..1992
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1993..3604
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3582..3587
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /note="hexamer: AATAAA"
     polyA_site      3604
                     /gene="ABCD3"
                     /gene_synonym="ABC43; CBAS5; PMP70; PXMP1; ZWS2"
                     /note="major polyA site"
ORIGIN      
        1 cccagtctcc cccgcgctgc gtgcagtaag gtagccgccg ccgccgccgc cgccgcgtcc
       61 cctcgccggc tcgctggtac cggcagtgcc atggcggcct tcagcaagta cttgacggcg
      121 cgaaactcct cgctggctgg tgccgcgttc ctgctgctct gcctgctcca caagcggcgc
      181 cgcgccctcg gcctgcacgg taagaaaagt ggaaaaccac cattacagaa caatgagaaa
      241 gaggggaaaa aggagcgagc tgtggtggac aaggtgtttt tctcaaggct catacagatt
      301 ctgaaaatca tggtccctag aacattttgt aaagagacag gttacttggt acttattgct
      361 gttatgctgg tgtctcgaac atattgtgat gtttggatga ttcaaaatgg gacactaatt
      421 gaaagtggta tcattggtcg tagcaggaaa gatttcaaga gatacttact caacttcatc
      481 gctgccatgc ctcttatctc tctggttaat aacttcttga agtatgggtt aaatgagctt
      541 aaactgtgct tccgagtaag gctcactaaa tacctctatg aggagtatct tcaagctttc
      601 acatattata aaatggggaa tctggacaac agaatagcta atccagacca gctgcttaca
      661 caagatgtag aaaaattttg taacagtgta gtcgatctgt attcaaatct tagtaagcca
      721 tttttagaca tagttttgta tatctttaag ttaacgagtg caattggagc tcagggccca
      781 gcgagcatga tggcctactt ggttgtttct gggctattcc taactcgact tcgaagaccc
      841 attggtaaga tgacaataac tgagcaaaag tatgaaggag aatatagata tgttaattct
      901 cggctcatca caaacagtga agaaattgcc ttttacaatg ggaataaaag agaaaagcag
      961 acagtccact cagtcttccg aaaactggtg gaacacctac ataatttcat tttgtttcgg
     1021 ttttcaatgg gcttcattga tagtattatt gccaaatacc ttgccactgt tgttggttac
     1081 ctagttgtca gtcgcccttt cttagatttg tctcatcctc gacatctcaa gagtacacat
     1141 tcggaacttc tagaggatta ctaccaaagt ggaagaatgc ttttgcgaat gtctcaagct
     1201 ctgggtcgaa tagttttggc tgggcgtgaa atgactagat tggccggttt tactgctcgg
     1261 attacagaat taatgcaagt actgaaggat ttaaatcatg gcaaatatga gcgcacaatg
     1321 gtctcacaac aggaaaaggg tattgaagga gtacaagtca ttcccttgat acctggtgct
     1381 ggagaaatca ttattgcaga taacattata aagtttgatc atgttccttt agcaacgcca
     1441 aatggagatg ttttgatccg agaccttaat tttgaagttc gatctggggc taatgttcta
     1501 atttgtggtc caaatggctg cggaaagagt tcacttttcc gtgttcttgg tgaattatgg
     1561 cctctttttg gaggacgtct aactaaacct gaaagaggaa aattatttta tgttcctcag
     1621 agaccttaca tgacccttgg aacacttcga gatcaagtga tatatccaga tggacgagaa
     1681 gatcagaaaa ggaagggaat ttctgaccta gtactgaagg aatacttaga caatgtccag
     1741 ttgggtcata tccttgaacg tgaaggaggc tgggacagtg ttcaggattg gatggacgta
     1801 ctcagtggtg gagaaaagca aagaatggcg atggcaagat tattttatca taaaccccag
     1861 tttgccattt tggatgaatg cacaagtgca gttagtgtcg acgtggaagg ctacatttat
     1921 agtcattgtc gaaaggttgg catcactctc ttcactgtgt ctcataggaa atctctttgg
     1981 aaacatcatg agtactacct gcatatggat ggcagaggca actatgaatt caaacagata
     2041 acagaagata cagttgagtt tggctcttag agaaatctgg agaactatac ctgcttcagt
     2101 gaaataatta cagaatatac ttagaaaggc aaagtacatt gtaaaataaa gttgagctta
     2161 gtttttttta aaaaaaaaaa caaagcaaca aattaactag atacagaata atggagaaca
     2221 agttgttaaa acatttaata ttatatagga tattgctaat tgtgtatatg ttggtttaat
     2281 taataatatg tactaagaat gtccttattc ttgtggttaa aaacctgcct aaattaaatt
     2341 gggcttcaat cactgtaacc tgattcatcc tgggatgtaa accattcgaa gtcagctaat
     2401 tggactttta tggctctatc ttttccttca gtgaagaacc ctatttaaaa ctgggtcatc
     2461 atttgtcctg ttctagcaag atagtcttca gtttcatttt cctgtgccct gtggtagttg
     2521 gaaacaaatc ataatgtatt atttaaatgt ttaacatcat tgcataacag cgtttattat
     2581 acagtggcag atttctttag ctgccacagt aatactcatt ccttgtgtgt gtcttggagt
     2641 gcatttgact ccaggaaaag ccattttggt tttccttaac taaatgataa atgtacccct
     2701 ctcagtctgc agtattgagt tgtttaaagt atatgtgcag tcttgcttac aaggaggggt
     2761 taccatgtat cacacctaat cttcccaatg tttgggatat taaaacacaa agtccttaac
     2821 atgccaggct caaggtctta taagagttct agatttttaa gagaattaga caaatttgtg
     2881 tgtgttagaa gcccattcat tagaagtgtg gtggttattt ggtattaaac tccaaatgag
     2941 ccataggaag gcactacatg aaataatgca ctgagtatgc aatgctatca ctgtctttga
     3001 ctgtgatttt atgtttaaaa agtatgttct aaaattatta tatatacatg ggtgaattat
     3061 gtttccgagg cactgtttta tctctgtgaa tcttgaataa cttttttata tttgggttat
     3121 gatgtcaaac gatcctaagc gaagatgatt tcagttcatc aaatcatcat taatgacttt
     3181 atgtattatt tgcacaggga gaattgaaac tgagtataat caataagcta gatacgaaat
     3241 cagtttctca aactgagctt cagaaagggg cattttgtac tcttgttttt gcataactgg
     3301 ttttgttttt ttgcagaatt aactataaca atcactggct accgaagtaa actgatgtac
     3361 tgaattccat aatacataac attcaatttt taccacttct gtttagcgaa cttgtatact
     3421 tattttctgt tcagattaaa aaaaaaaaaa aaaaactcag atatcctata caacctttgc
     3481 ttgttctttt tattctggta tctaaatact gagaagttca tttataattc agccttgact
     3541 tgaaaacata gatagtttaa tcttgacttg aaaaacacaa aaataaattc agaaaatgct
     3601 ttta
//
