LOCUS       NM_001353591            2909 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily D member 4 (ABCD4),
            transcript variant 6, mRNA.
ACCESSION   NM_001353591 XM_017021532
VERSION     NM_001353591.2
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 2909)
  AUTHORS   Pillai,N.R., Miller,D., Pierpont,E.I., Berry,S.A. and Aggarwal,A.
  TITLE     Cobalamin J disease detected on newborn screening: Novel variant
            and normal neurodevelopmental course
  JOURNAL   Am J Med Genet A 185 (6), 1870-1874 (2021)
   PUBMED   33729671
  REMARK    GeneRIF: Cobalamin J disease detected on newborn screening: Novel
            variant and normal neurodevelopmental course.
REFERENCE   2  (bases 1 to 2909)
  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 2909)
  AUTHORS   Kitai,K., Kawaguchi,K., Tomohiro,T., Morita,M., So,T. and
            Imanaka,T.
  TITLE     The lysosomal protein ABCD4 can transport vitamin B12 across
            liposomal membranes in vitro
  JOURNAL   J Biol Chem 296, 100654 (2021)
   PUBMED   33845046
REFERENCE   4  (bases 1 to 2909)
  AUTHORS   Xu,D., Feng,Z., Hou,W.T., Jiang,Y.L., Wang,L., Sun,L., Zhou,C.Z.
            and Chen,Y.
  TITLE     Cryo-EM structure of human lysosomal cobalamin exporter ABCD4
  JOURNAL   Cell Res 29 (12), 1039-1041 (2019)
   PUBMED   31467407
  REMARK    GeneRIF: Cryo-EM structure of human lysosomal cobalamin exporter
            ABCD4.
REFERENCE   5  (bases 1 to 2909)
  AUTHORS   Liu,Y., Kang,L., Li,D., Jin,Y., Song,J., Li,H., Wang,J. and Yang,Y.
  TITLE     Patients with cobalamin G or J defect missed by the current newborn
            screening program: diagnosis and novel mutations
  JOURNAL   J Hum Genet 64 (4), 305-312 (2019)
   PUBMED   30651581
  REMARK    GeneRIF: Utilizing whole-exome sequencing, we found two novel MTR
            variants c.871C>T (p.Pro291Ser) and c.1771C>T (p.Arg591*) in
            Patient 1, and a ABCD4 homozygous variant c.423C>G (p.Asn141Lys) in
            Patient 2. Our study identified the first Cobalamin Gpatient and
            cobalamin J patient in mainland China, and highlighted
            comprehensive metabolic analyses and genetic tests in patients
            suspected of cobalamin defects
REFERENCE   6  (bases 1 to 2909)
  AUTHORS   Holzinger,A., Roscher,A.A., Landgraf,P., Lichtner,P. and
            Kammerer,S.
  TITLE     Genomic organization and chromosomal localization of the human
            peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding
            a peroxisomal ABC transporter
  JOURNAL   FEBS Lett 426 (2), 238-242 (1998)
   PUBMED   9599016
REFERENCE   7  (bases 1 to 2909)
  AUTHORS   Gartner,J., Jimenez-Sanchez,G., Roerig,P. and Valle,D.
  TITLE     Genomic organization of the 70-kDa peroxisomal membrane protein
            gene (PXMP1)
  JOURNAL   Genomics 48 (2), 203-208 (1998)
   PUBMED   9521874
REFERENCE   8  (bases 1 to 2909)
  AUTHORS   Shani,N., Jimenez-Sanchez,G., Steel,G., Dean,M. and Valle,D.
  TITLE     Identification of a fourth half ABC transporter in the human
            peroxisomal membrane
  JOURNAL   Hum Mol Genet 6 (11), 1925-1931 (1997)
   PUBMED   9302272
REFERENCE   9  (bases 1 to 2909)
  AUTHORS   Holzinger,A., Kammerer,S. and Roscher,A.A.
  TITLE     Primary structure of human PMP69, a putative peroxisomal
            ABC-transporter
  JOURNAL   Biochem Biophys Res Commun 237 (1), 152-157 (1997)
   PUBMED   9266848
REFERENCE   10 (bases 1 to 2909)
  AUTHORS   Sloan,J.L., Carrillo,N., Adams,D. and Venditti,C.P.
  TITLE     Disorders of Intracellular Cobalamin Metabolism
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301503
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005519.4.
            
            On May 31, 2019 this sequence version replaced NM_001353591.1.
            
            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. The
            function of this peroxisomal membrane protein is unknown. However,
            it is speculated that it may function as a heterodimer for another
            peroxisomal ABC transporter and, therefore, may modify the
            adrenoleukodystrophy phenotype. It may also play a role in the
            process of peroxisome biogenesis. Alternative splicing results in
            several protein-coding and non-protein-coding variants. [provided
            by RefSeq, Jul 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR1803612.66533.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-60                AC005519.4         91768-91827
            61-179              AC005519.4         94434-94552
            180-307             AC005519.4         95027-95154
            308-447             AC005519.4         96633-96772
            448-564             AC005519.4         98253-98369
            565-615             AC005519.4         99504-99554
            616-710             AC005519.4         101454-101548
            711-832             AC005519.4         101833-101954
            833-924             AC005519.4         102060-102151
            925-1014            AC005519.4         102326-102415
            1015-1223           AC005519.4         104203-104411
            1224-1315           AC005519.4         104584-104675
            1316-1352           AC005519.4         105183-105219
            1353-1402           AC005519.4         105937-105986
            1403-1455           AC005519.4         106443-106495
            1456-1532           AC005519.4         106816-106892
            1533-1648           AC005519.4         107886-108001
            1649-2909           AC005519.4         108173-109433
FEATURES             Location/Qualifiers
     source          1..2909
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..2909
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="ATP binding cassette subfamily D member 4"
                     /db_xref="GeneID:5826"
                     /db_xref="HGNC:HGNC:68"
                     /db_xref="MIM:603214"
     exon            1..60
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..1717
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /EC_number="7.6.2.8"
                     /note="isoform d is encoded by transcript variant 6;
                     ATP-binding cassette sub-family D member 4; peroxisomal
                     membrane protein 69; 69 kDa peroxisomal ABC-transporter;
                     PMP70-related protein; PXMP1-L; ATP-binding cassette,
                     sub-family D (ALD), member 4; lysosomal cobalamin
                     transporter ABCD4"
                     /codon_start=1
                     /product="lysosomal cobalamin transporter ABCD4 isoform d"
                     /protein_id="NP_001340520.1"
                     /db_xref="GeneID:5826"
                     /db_xref="HGNC:HGNC:68"
                     /db_xref="MIM:603214"
                     /translation="MAVAGPAPGAGARPRLDLQFLQRFLQILKVLFPSWSSQNALMFL
                     TLLCLTLLEQFVIYQVGLIPSQYYGVLGNKDLEGFKTLTFLAVMLIVLNSTLKSFDQF
                     TCNLLYVSWRKDLTEHLHRLYFRGRAYYTLNVLRDDIDNPDQRISQDVERFCRQLSSM
                     ASKLIISPFTLVYYTYQCFQRFKHMQIRVNAEPAAFYRAGHVEHMRTDRRLQRLLQTQ
                     RELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGDLSPAELSTLVSKNAFVCI
                     YLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILGESEWGLDTPPG
                     WPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLITGNTGTGKTSLLRVL
                     GGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADDER
                     ILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYLQPKYAVLDEA
                     TSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWELMRIKVE"
     exon            61..179
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            180..307
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            308..447
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            448..564
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            565..615
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            616..710
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            711..832
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            833..924
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            925..1014
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1223
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..1315
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1316..1352
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1353..1402
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1403..1455
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1456..1532
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1533..1648
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..2909
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2175..2180
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: ATTAAA"
     regulatory      2185..2190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: ATTACA"
     polyA_site      2207
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="major polyA site"
     polyA_site      2215
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
     regulatory      2736..2741
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: AATAAA"
     polyA_site      2755
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
     regulatory      2883..2888
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: AATAAA"
     polyA_site      2909
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
ORIGIN      
        1 agagtccctc gggtctcagg tcatggcggt cgcggggccc gcgcccggag ctggcgccag
       61 gcccaggtta gatctgcaat ttctccagcg gttcctgcag atactgaagg ttttgtttcc
      121 ttcttggtca tcacaaaatg ccttgatgtt cctgaccctt ttgtgcctga ccctactgga
      181 gcaatttgtg atctaccagg ttggcttgat ccccagtcag tactatgggg tcctgggaaa
      241 caaagacttg gaagggttta agactctgac attcctggct gtcatgctca ttgttctgaa
      301 ctccacgctg aagagctttg atcagttcac ctgcaacctg ctgtatgtga gctggaggaa
      361 ggacctcact gagcaccttc accgcctcta cttccggggc cgtgcgtact acaccctcaa
      421 cgtgctgcgg gatgacatcg ataacccgga ccagcgcatc agccaggacg tggagcgatt
      481 ctgccggcag ctcagcagca tggccagcaa gctcatcatc tccccgttca ccctcgtcta
      541 ctacacttac cagtgcttcc aaaggttcaa gcacatgcag attcgggtga atgcggagcc
      601 tgctgctttc tacagagctg ggcatgtgga gcacatgagg acagaccgca ggctgcagag
      661 actccttcag acccagaggg agctgatgtc caaggagctc tggctgtaca tcggcatcaa
      721 cacctttgac tatctgggca gcatcctgag ttacgttgtc atcgcaatcc ccattttcag
      781 cggggtctat ggagacctga gtcccgcaga gcttagcacc ctggtcagca agaatgcctt
      841 tgtgtgcatc tacctcatca gctgcttcac ccagctcatc gacctgtcca cgacgctctc
      901 agatgtggct ggctacacgc acagaattgg gcagcttcgg gagacgcttc tggacatgtc
      961 cctgaagtca caggactgcg agatcctggg cgagagcgag tggggcttgg acacaccccc
     1021 agggtggcca gcggcagagc cagcagacac agcatttctc cttgagcggg tctccatctc
     1081 tgccccctcc tctgacaaac ccctaatcaa ggatctgagc ctaaagatct ccgagggaca
     1141 gagcctgctc atcacaggca acacgggcac tggcaagacc tccttgctcc gggttctggg
     1201 tggcctctgg acgagtacac ggggctcagt gcagatgctg acggactttg ggccccatgg
     1261 ggtgctattc ctgccacaaa agccattctt cactgacggg acccttcggg agcaggtgat
     1321 atatcccctg aaggaggtct accccgactc aggttctgcc gatgatgaga ggatcttgag
     1381 gttcttggaa ttggcaggcc tgtccaactt ggtggcaagg acagagggcc tggaccagca
     1441 ggtggactgg aactggtatg atgttctgtc cccgggggag atgcaacggc tctcctttgc
     1501 ccgactcttc tacctgcagc cgaagtacgc agtgcttgat gaagccacca gtgccctgac
     1561 agaggaagtg gagagcgagc tctatcgcat cggccagcag ctggggatga cgttcatcag
     1621 tgtgggacat cggcagagcc ttgagaagtt tcattccttg gttctgaaac tctgtggagg
     1681 aggaagatgg gagctgatga gaatcaaagt ggaatgaagc tctggctttt ggaaggagag
     1741 ccacactgtg gcgggtcggc ggccctcagg agagaccagg aggactgaca gcgaagatcg
     1801 agctcaggtt cgccacatag atcccgtgca ggagccacat gggtcctgtg caggacccct
     1861 agcagtggtg ggctgagccc aggtctaggt ttctgtgggg gacactgaat ctcccagtgt
     1921 tcagtctccc aggactctgc tgcctcagcc agagcctcca tatgcttgaa gtgctgatta
     1981 cctacaaatg atttcagatc atgtttgcta aagagaaatc tggaagtgtg agatctgtaa
     2041 gaaatgaaag aaatgactct tggagtcaag agatctggaa atcttttaat cagttaaatt
     2101 gtgcagcaat agatttttaa ctttaactga ccatttaagt tttttaataa gttttttaca
     2161 aagaaaagtt aaacattaaa aagaattaca gctttctgtc ttctctatca tggaatgatc
     2221 ttttttattg aatctccaga tttgtatttg acagcttggt gggaagggaa gcacactctg
     2281 ctgttctgga atcttatgcc cagggttttt cacttctccc cacatctccc tttccacttg
     2341 ccagtgttgt gtagttagaa cctgaaccac taacttccag gggcctttgg tctgccctac
     2401 cttaacccaa atgaaagtaa atccctttcc ccttagccaa aataaggttg ggttttctaa
     2461 aaaaatagtc tatattaggg aacaacaaca gcaaattaga caaaacccag aaagcacaaa
     2521 gcatgaggtg gagttactgt gcccaaagtc ctcactcaga ccagtgcccc tccagttcag
     2581 ttgtctatgt attaccttcc ttaccttcat aatttttgcc aggcttctgt acttctagta
     2641 cttgagttac ttaatatttt taaaaacaaa ccttttaagt ttaaatggat ttttaagtga
     2701 aattttacac ttaacataga tggaaagtaa ctaaaaataa atacaagaaa aaccatcggt
     2761 gttattaact tacggctaga tgctgttgcc tgcatagact ctgggcctga ggcttgttca
     2821 ttttgtaaaa aagagaggtg aggagttaga cggactggca ctcaactgag atttttctcc
     2881 ttaataaaat cagaaagatg gagtgagaa
//
