LOCUS       NM_001353597            2851 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily D member 4 (ABCD4),
            transcript variant 12, mRNA.
ACCESSION   NM_001353597
VERSION     NM_001353597.2
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 2851)
  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 2851)
  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 2851)
  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 2851)
  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 2851)
  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 2851)
  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 2851)
  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 2851)
  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 2851)
  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 2851)
  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_001353597.1.
            
            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 :: SRR1803616.13947.1 [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
            180-319             AC005519.4         96633-96772
            320-436             AC005519.4         98253-98369
            437-557             AC005519.4         98728-98848
            558-652             AC005519.4         101454-101548
            653-774             AC005519.4         101833-101954
            775-866             AC005519.4         102060-102151
            867-956             AC005519.4         102326-102415
            957-1165            AC005519.4         104203-104411
            1166-1257           AC005519.4         104584-104675
            1258-1294           AC005519.4         105183-105219
            1295-1344           AC005519.4         105937-105986
            1345-1397           AC005519.4         106443-106495
            1398-1474           AC005519.4         106816-106892
            1475-1590           AC005519.4         107886-108001
            1591-2851           AC005519.4         108173-109433
FEATURES             Location/Qualifiers
     source          1..2851
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..2851
                     /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..319
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             304..1659
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /EC_number="7.6.2.8"
                     /note="isoform i is encoded by transcript variant 12;
                     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 i"
                     /protein_id="NP_001340526.1"
                     /db_xref="GeneID:5826"
                     /db_xref="HGNC:HGNC:68"
                     /db_xref="MIM:603214"
                     /translation="MTSITRTSASARTWSDSAGSSAAWPASSSSPRSPSSTTLTSASK
                     GWLGPVSIFGYFILGTVVNKTLMGPIVMKLVHQEKLEGDFRAGHVEHMRTDRRLQRLL
                     QTQRELMSKELWLYIGINTFDYLGSILSYVVIAIPIFSGVYGDLSPAELSTLVSKNAF
                     VCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILGESEWGLDT
                     PPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLITGNTGTGKTSLL
                     RVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEVYPDSGSAD
                     DERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFYLQPKYAVL
                     DEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGRWELMRIKV
                     E"
     exon            320..436
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            437..557
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            558..652
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            653..774
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            775..866
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            867..956
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1165
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1257
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1294
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1344
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1397
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1398..1474
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1475..1590
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..2851
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2117..2122
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: ATTAAA"
     regulatory      2127..2132
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: ATTACA"
     polyA_site      2149
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="major polyA site"
     polyA_site      2157
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
     regulatory      2678..2683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: AATAAA"
     polyA_site      2697
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
     regulatory      2825..2830
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: AATAAA"
     polyA_site      2851
                     /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 ccctactggc
      181 tgaagagctt tgatcagttc acctgcaacc tgctgtatgt gagctggagg aaggacctca
      241 ctgagcacct tcaccgcctc tacttccggg gccgtgcgta ctacaccctc aacgtgctgc
      301 gggatgacat cgataacccg gaccagcgca tcagccagga cgtggagcga ttctgccggc
      361 agctcagcag catggccagc aagctcatca tctccccgtt caccctcgtc tactacactt
      421 accagtgctt ccaaaggctg gctcgggcct gtgagcatct tcgggtattt catcctgggg
      481 accgtggtga acaaaacttt gatgggcccc attgtgatga agctggtgca tcaggagaag
      541 ctggagggag attttagagc tgggcatgtg gagcacatga ggacagaccg caggctgcag
      601 agactccttc agacccagag ggagctgatg tccaaggagc tctggctgta catcggcatc
      661 aacacctttg actatctggg cagcatcctg agttacgttg tcatcgcaat ccccattttc
      721 agcggggtct atggagacct gagtcccgca gagcttagca ccctggtcag caagaatgcc
      781 tttgtgtgca tctacctcat cagctgcttc acccagctca tcgacctgtc cacgacgctc
      841 tcagatgtgg ctggctacac gcacagaatt gggcagcttc gggagacgct tctggacatg
      901 tccctgaagt cacaggactg cgagatcctg ggcgagagcg agtggggctt ggacacaccc
      961 ccagggtggc cagcggcaga gccagcagac acagcatttc tccttgagcg ggtctccatc
     1021 tctgccccct cctctgacaa acccctaatc aaggatctga gcctaaagat ctccgaggga
     1081 cagagcctgc tcatcacagg caacacgggc actggcaaga cctccttgct ccgggttctg
     1141 ggtggcctct ggacgagtac acggggctca gtgcagatgc tgacggactt tgggccccat
     1201 ggggtgctat tcctgccaca aaagccattc ttcactgacg ggacccttcg ggagcaggtg
     1261 atatatcccc tgaaggaggt ctaccccgac tcaggttctg ccgatgatga gaggatcttg
     1321 aggttcttgg aattggcagg cctgtccaac ttggtggcaa ggacagaggg cctggaccag
     1381 caggtggact ggaactggta tgatgttctg tccccggggg agatgcaacg gctctccttt
     1441 gcccgactct tctacctgca gccgaagtac gcagtgcttg atgaagccac cagtgccctg
     1501 acagaggaag tggagagcga gctctatcgc atcggccagc agctggggat gacgttcatc
     1561 agtgtgggac atcggcagag ccttgagaag tttcattcct tggttctgaa actctgtgga
     1621 ggaggaagat gggagctgat gagaatcaaa gtggaatgaa gctctggctt ttggaaggag
     1681 agccacactg tggcgggtcg gcggccctca ggagagacca ggaggactga cagcgaagat
     1741 cgagctcagg ttcgccacat agatcccgtg caggagccac atgggtcctg tgcaggaccc
     1801 ctagcagtgg tgggctgagc ccaggtctag gtttctgtgg gggacactga atctcccagt
     1861 gttcagtctc ccaggactct gctgcctcag ccagagcctc catatgcttg aagtgctgat
     1921 tacctacaaa tgatttcaga tcatgtttgc taaagagaaa tctggaagtg tgagatctgt
     1981 aagaaatgaa agaaatgact cttggagtca agagatctgg aaatctttta atcagttaaa
     2041 ttgtgcagca atagattttt aactttaact gaccatttaa gttttttaat aagtttttta
     2101 caaagaaaag ttaaacatta aaaagaatta cagctttctg tcttctctat catggaatga
     2161 tcttttttat tgaatctcca gatttgtatt tgacagcttg gtgggaaggg aagcacactc
     2221 tgctgttctg gaatcttatg cccagggttt ttcacttctc cccacatctc cctttccact
     2281 tgccagtgtt gtgtagttag aacctgaacc actaacttcc aggggccttt ggtctgccct
     2341 accttaaccc aaatgaaagt aaatcccttt ccccttagcc aaaataaggt tgggttttct
     2401 aaaaaaatag tctatattag ggaacaacaa cagcaaatta gacaaaaccc agaaagcaca
     2461 aagcatgagg tggagttact gtgcccaaag tcctcactca gaccagtgcc cctccagttc
     2521 agttgtctat gtattacctt ccttaccttc ataatttttg ccaggcttct gtacttctag
     2581 tacttgagtt acttaatatt tttaaaaaca aaccttttaa gtttaaatgg atttttaagt
     2641 gaaattttac acttaacata gatggaaagt aactaaaaat aaatacaaga aaaaccatcg
     2701 gtgttattaa cttacggcta gatgctgttg cctgcataga ctctgggcct gaggcttgtt
     2761 cattttgtaa aaaagagagg tgaggagtta gacggactgg cactcaactg agatttttct
     2821 ccttaataaa atcagaaaga tggagtgaga a
//
