LOCUS       NM_001353599            3066 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily D member 4 (ABCD4),
            transcript variant 14, mRNA.
ACCESSION   NM_001353599
VERSION     NM_001353599.2
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 3066)
  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 3066)
  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 3066)
  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 3066)
  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 3066)
  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 3066)
  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 3066)
  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 3066)
  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 3066)
  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 3066)
  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_001353599.1.
            
            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].
            
            Transcript Variant: This variant (14), as well as variants 15 and
            16, encodes isoform j.
            
            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 :: SRR1660803.165236.1 [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
            308-424             AC005519.4         98253-98369
            425-550             AC005519.4         98723-98848
            551-601             AC005519.4         99504-99554
            602-696             AC005519.4         101454-101548
            697-818             AC005519.4         101833-101954
            819-910             AC005519.4         102060-102151
            911-1000            AC005519.4         102326-102415
            1001-1209           AC005519.4         104203-104411
            1210-1301           AC005519.4         104584-104675
            1302-1338           AC005519.4         105183-105219
            1339-1388           AC005519.4         105937-105986
            1389-1441           AC005519.4         106443-106495
            1442-1518           AC005519.4         106816-106892
            1519-3066           AC005519.4         107886-109433
FEATURES             Location/Qualifiers
     source          1..3066
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..3066
                     /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"
     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..424
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             360..1661
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /EC_number="7.6.2.8"
                     /note="isoform j is encoded by transcript variant 14;
                     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 j"
                     /protein_id="NP_001340528.1"
                     /db_xref="GeneID:5826"
                     /db_xref="HGNC:HGNC:68"
                     /db_xref="MIM:603214"
                     /translation="MASKLIISPFTLVYYTYQCFQSTGWLGPVSIFGYFILGTVVNKT
                     LMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYRAGHVEHMRTDRRLQRLLQTQR
                     ELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGDLSPAELSTLVSKNAFVCIY
                     LISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILGESEWGLDTPPGW
                     PAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLITGNTGTGKTSLLRVLG
                     GLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADDERI
                     LRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYLQPKYAVLDEAT
                     SALTEEVESELYRIGQQLGMTFISVGHRQSLEKVPVLTRMA"
     exon            425..550
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            551..601
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            602..696
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            697..818
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            819..910
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1000
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1209
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1301
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1338
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1388
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1389..1441
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1442..1518
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1519..3066
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2332..2337
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: ATTAAA"
     regulatory      2342..2347
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: ATTACA"
     polyA_site      2364
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="major polyA site"
     polyA_site      2372
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
     regulatory      2893..2898
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: AATAAA"
     polyA_site      2912
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
     regulatory      3040..3045
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: AATAAA"
     polyA_site      3066
                     /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 ctccacggga ccagcgcatc agccaggacg tggagcgatt ctgccggcag ctcagcagca
      361 tggccagcaa gctcatcatc tccccgttca ccctcgtcta ctacacttac cagtgcttcc
      421 aaagcacagg ctggctcggg cctgtgagca tcttcgggta tttcatcctg gggaccgtgg
      481 tgaacaaaac tttgatgggc cccattgtga tgaagctggt gcatcaggag aagctggagg
      541 gagattttag gttcaagcac atgcagattc gggtgaatgc ggagcctgct gctttctaca
      601 gagctgggca tgtggagcac atgaggacag accgcaggct gcagagactc cttcagaccc
      661 agagggagct gatgtccaag gagctctggc tgtacatcgg catcaacacc tttgactatc
      721 tgggcagcat cctgagttac gttgtcatcg caatccccat tttcagcggg gtctatggag
      781 acctgagtcc cgcagagctt agcaccctgg tcagcaagaa tgcctttgtg tgcatctacc
      841 tcatcagctg cttcacccag ctcatcgacc tgtccacgac gctctcagat gtggctggct
      901 acacgcacag aattgggcag cttcgggaga cgcttctgga catgtccctg aagtcacagg
      961 actgcgagat cctgggcgag agcgagtggg gcttggacac acccccaggg tggccagcgg
     1021 cagagccagc agacacagca tttctccttg agcgggtctc catctctgcc ccctcctctg
     1081 acaaacccct aatcaaggat ctgagcctaa agatctccga gggacagagc ctgctcatca
     1141 caggcaacac gggcactggc aagacctcct tgctccgggt tctgggtggc ctctggacga
     1201 gtacacgggg ctcagtgcag atgctgacgg actttgggcc ccatggggtg ctattcctgc
     1261 cacaaaagcc attcttcact gacgggaccc ttcgggagca ggtgatatat cccctgaagg
     1321 aggtctaccc cgactcaggt tctgccgatg atgagaggat cttgaggttc ttggaattgg
     1381 caggcctgtc caacttggtg gcaaggacag agggcctgga ccagcaggtg gactggaact
     1441 ggtatgatgt tctgtccccg ggggagatgc aacggctctc ctttgcccga ctcttctacc
     1501 tgcagccgaa gtacgcagtg cttgatgaag ccaccagtgc cctgacagag gaagtggaga
     1561 gcgagctcta tcgcatcggc cagcagctgg ggatgacgtt catcagtgtg ggacatcggc
     1621 agagccttga gaaggtaccc gtgctcacaa ggatggcctg aggaggagaa agaacccaaa
     1681 ggctcagcct ggccagggcc agaggcccct caaaacgggg agtagcagta gcagagagaa
     1741 ccgagtggcc tcctctgcca gcggccaggg cagcctgatc tccatgtggt ggtggtctct
     1801 tgtagtttca ttccttggtt ctgaaactct gtggaggagg aagatgggag ctgatgagaa
     1861 tcaaagtgga atgaagctct ggcttttgga aggagagcca cactgtggcg ggtcggcggc
     1921 cctcaggaga gaccaggagg actgacagcg aagatcgagc tcaggttcgc cacatagatc
     1981 ccgtgcagga gccacatggg tcctgtgcag gacccctagc agtggtgggc tgagcccagg
     2041 tctaggtttc tgtgggggac actgaatctc ccagtgttca gtctcccagg actctgctgc
     2101 ctcagccaga gcctccatat gcttgaagtg ctgattacct acaaatgatt tcagatcatg
     2161 tttgctaaag agaaatctgg aagtgtgaga tctgtaagaa atgaaagaaa tgactcttgg
     2221 agtcaagaga tctggaaatc ttttaatcag ttaaattgtg cagcaataga tttttaactt
     2281 taactgacca tttaagtttt ttaataagtt ttttacaaag aaaagttaaa cattaaaaag
     2341 aattacagct ttctgtcttc tctatcatgg aatgatcttt tttattgaat ctccagattt
     2401 gtatttgaca gcttggtggg aagggaagca cactctgctg ttctggaatc ttatgcccag
     2461 ggtttttcac ttctccccac atctcccttt ccacttgcca gtgttgtgta gttagaacct
     2521 gaaccactaa cttccagggg cctttggtct gccctacctt aacccaaatg aaagtaaatc
     2581 cctttcccct tagccaaaat aaggttgggt tttctaaaaa aatagtctat attagggaac
     2641 aacaacagca aattagacaa aacccagaaa gcacaaagca tgaggtggag ttactgtgcc
     2701 caaagtcctc actcagacca gtgcccctcc agttcagttg tctatgtatt accttcctta
     2761 ccttcataat ttttgccagg cttctgtact tctagtactt gagttactta atatttttaa
     2821 aaacaaacct tttaagttta aatggatttt taagtgaaat tttacactta acatagatgg
     2881 aaagtaacta aaaataaata caagaaaaac catcggtgtt attaacttac ggctagatgc
     2941 tgttgcctgc atagactctg ggcctgaggc ttgttcattt tgtaaaaaag agaggtgagg
     3001 agttagacgg actggcactc aactgagatt tttctcctta ataaaatcag aaagatggag
     3061 tgagaa
//
