LOCUS       NM_001353598            2788 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily D member 4 (ABCD4),
            transcript variant 13, mRNA.
ACCESSION   NM_001353598 XM_005267946
VERSION     NM_001353598.2
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 2788)
  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 2788)
  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 2788)
  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 2788)
  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 2788)
  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 2788)
  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 2788)
  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 2788)
  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 2788)
  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 2788)
  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_001353598.1.
            
            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 (13), as well as variant 3,
            encodes isoform c.
            
            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 :: SRR1803614.130205.1,
                                           ERR3218374.461002.1 [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
            61-200              AC005519.4         96633-96772
            201-317             AC005519.4         98253-98369
            318-443             AC005519.4         98723-98848
            444-494             AC005519.4         99504-99554
            495-589             AC005519.4         101454-101548
            590-711             AC005519.4         101833-101954
            712-803             AC005519.4         102060-102151
            804-893             AC005519.4         102326-102415
            894-1102            AC005519.4         104203-104411
            1103-1194           AC005519.4         104584-104675
            1195-1231           AC005519.4         105183-105219
            1232-1281           AC005519.4         105937-105986
            1282-1334           AC005519.4         106443-106495
            1335-1411           AC005519.4         106816-106892
            1412-1527           AC005519.4         107886-108001
            1528-2788           AC005519.4         108173-109433
FEATURES             Location/Qualifiers
     source          1..2788
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..2788
                     /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..200
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            201..317
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             253..1596
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /EC_number="7.6.2.8"
                     /note="isoform c is encoded by transcript variant 13;
                     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 c"
                     /protein_id="NP_001340527.1"
                     /db_xref="GeneID:5826"
                     /db_xref="HGNC:HGNC:68"
                     /db_xref="MIM:603214"
                     /translation="MASKLIISPFTLVYYTYQCFQSTGWLGPVSIFGYFILGTVVNKT
                     LMGPIVMKLVHQEKLEGDFRFKHMQIRVNAEPAAFYRAGHVEHMRTDRRLQRLLQTQR
                     ELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGDLSPAELSTLVSKNAFVCIY
                     LISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILGESEWGLDTPPGW
                     PAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLITGNTGTGKTSLLRVLG
                     GLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSADDERI
                     LRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYLQPKYAVLDEAT
                     SALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWELMRIKVE"
     exon            318..443
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            444..494
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            495..589
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            590..711
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            712..803
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            804..893
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1102
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1194
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1195..1231
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1281
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1334
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1335..1411
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1412..1527
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..2788
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2054..2059
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: ATTAAA"
     regulatory      2064..2069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: ATTACA"
     polyA_site      2086
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="major polyA site"
     polyA_site      2094
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
     regulatory      2615..2620
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: AATAAA"
     polyA_site      2634
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
     regulatory      2762..2767
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: AATAAA"
     polyA_site      2788
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
ORIGIN      
        1 agagtccctc gggtctcagg tcatggcggt cgcggggccc gcgcccggag ctggcgccag
       61 ctgaagagct ttgatcagtt cacctgcaac ctgctgtatg tgagctggag gaaggacctc
      121 actgagcacc ttcaccgcct ctacttccgg ggccgtgcgt actacaccct caacgtgctg
      181 cgggatgaca tcgataaccc ggaccagcgc atcagccagg acgtggagcg attctgccgg
      241 cagctcagca gcatggccag caagctcatc atctccccgt tcaccctcgt ctactacact
      301 taccagtgct tccaaagcac aggctggctc gggcctgtga gcatcttcgg gtatttcatc
      361 ctggggaccg tggtgaacaa aactttgatg ggccccattg tgatgaagct ggtgcatcag
      421 gagaagctgg agggagattt taggttcaag cacatgcaga ttcgggtgaa tgcggagcct
      481 gctgctttct acagagctgg gcatgtggag cacatgagga cagaccgcag gctgcagaga
      541 ctccttcaga cccagaggga gctgatgtcc aaggagctct ggctgtacat cggcatcaac
      601 acctttgact atctgggcag catcctgagt tacgttgtca tcgcaatccc cattttcagc
      661 ggggtctatg gagacctgag tcccgcagag cttagcaccc tggtcagcaa gaatgccttt
      721 gtgtgcatct acctcatcag ctgcttcacc cagctcatcg acctgtccac gacgctctca
      781 gatgtggctg gctacacgca cagaattggg cagcttcggg agacgcttct ggacatgtcc
      841 ctgaagtcac aggactgcga gatcctgggc gagagcgagt ggggcttgga cacaccccca
      901 gggtggccag cggcagagcc agcagacaca gcatttctcc ttgagcgggt ctccatctct
      961 gccccctcct ctgacaaacc cctaatcaag gatctgagcc taaagatctc cgagggacag
     1021 agcctgctca tcacaggcaa cacgggcact ggcaagacct ccttgctccg ggttctgggt
     1081 ggcctctgga cgagtacacg gggctcagtg cagatgctga cggactttgg gccccatggg
     1141 gtgctattcc tgccacaaaa gccattcttc actgacggga cccttcggga gcaggtgata
     1201 tatcccctga aggaggtcta ccccgactca ggttctgccg atgatgagag gatcttgagg
     1261 ttcttggaat tggcaggcct gtccaacttg gtggcaagga cagagggcct ggaccagcag
     1321 gtggactgga actggtatga tgttctgtcc ccgggggaga tgcaacggct ctcctttgcc
     1381 cgactcttct acctgcagcc gaagtacgca gtgcttgatg aagccaccag tgccctgaca
     1441 gaggaagtgg agagcgagct ctatcgcatc ggccagcagc tggggatgac gttcatcagt
     1501 gtgggacatc ggcagagcct tgagaagttt cattccttgg ttctgaaact ctgtggagga
     1561 ggaagatggg agctgatgag aatcaaagtg gaatgaagct ctggcttttg gaaggagagc
     1621 cacactgtgg cgggtcggcg gccctcagga gagaccagga ggactgacag cgaagatcga
     1681 gctcaggttc gccacataga tcccgtgcag gagccacatg ggtcctgtgc aggaccccta
     1741 gcagtggtgg gctgagccca ggtctaggtt tctgtggggg acactgaatc tcccagtgtt
     1801 cagtctccca ggactctgct gcctcagcca gagcctccat atgcttgaag tgctgattac
     1861 ctacaaatga tttcagatca tgtttgctaa agagaaatct ggaagtgtga gatctgtaag
     1921 aaatgaaaga aatgactctt ggagtcaaga gatctggaaa tcttttaatc agttaaattg
     1981 tgcagcaata gatttttaac tttaactgac catttaagtt ttttaataag ttttttacaa
     2041 agaaaagtta aacattaaaa agaattacag ctttctgtct tctctatcat ggaatgatct
     2101 tttttattga atctccagat ttgtatttga cagcttggtg ggaagggaag cacactctgc
     2161 tgttctggaa tcttatgccc agggtttttc acttctcccc acatctccct ttccacttgc
     2221 cagtgttgtg tagttagaac ctgaaccact aacttccagg ggcctttggt ctgccctacc
     2281 ttaacccaaa tgaaagtaaa tccctttccc cttagccaaa ataaggttgg gttttctaaa
     2341 aaaatagtct atattaggga acaacaacag caaattagac aaaacccaga aagcacaaag
     2401 catgaggtgg agttactgtg cccaaagtcc tcactcagac cagtgcccct ccagttcagt
     2461 tgtctatgta ttaccttcct taccttcata atttttgcca ggcttctgta cttctagtac
     2521 ttgagttact taatattttt aaaaacaaac cttttaagtt taaatggatt tttaagtgaa
     2581 attttacact taacatagat ggaaagtaac taaaaataaa tacaagaaaa accatcggtg
     2641 ttattaactt acggctagat gctgttgcct gcatagactc tgggcctgag gcttgttcat
     2701 tttgtaaaaa agagaggtga ggagttagac ggactggcac tcaactgaga tttttctcct
     2761 taataaaatc agaaagatgg agtgagaa
//
