LOCUS       NM_001353603            2812 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily D member 4 (ABCD4),
            transcript variant 18, mRNA.
ACCESSION   NM_001353603 XM_017021536
VERSION     NM_001353603.2
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 2812)
  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 2812)
  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 2812)
  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 2812)
  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 2812)
  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 2812)
  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 2812)
  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 2812)
  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 2812)
  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 2812)
  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_001353603.1.
            
            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 (18), as well as variants 17, 19,
            and 20, encodes isoform k.
            
            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 :: SRR1803611.32946.1,
                                           SRR1803611.114247.1 [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
            437-562             AC005519.4         98723-98848
            563-613             AC005519.4         99504-99554
            614-735             AC005519.4         101833-101954
            736-827             AC005519.4         102060-102151
            828-917             AC005519.4         102326-102415
            918-1126            AC005519.4         104203-104411
            1127-1218           AC005519.4         104584-104675
            1219-1255           AC005519.4         105183-105219
            1256-1305           AC005519.4         105937-105986
            1306-1358           AC005519.4         106443-106495
            1359-1435           AC005519.4         106816-106892
            1436-1551           AC005519.4         107886-108001
            1552-2812           AC005519.4         108173-109433
FEATURES             Location/Qualifiers
     source          1..2812
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..2812
                     /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"
     exon            320..436
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            437..562
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            563..613
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             589..1620
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /EC_number="7.6.2.8"
                     /note="isoform k is encoded by transcript variant 18;
                     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 k"
                     /protein_id="NP_001340532.1"
                     /db_xref="GeneID:5826"
                     /db_xref="HGNC:HGNC:68"
                     /db_xref="MIM:603214"
                     /translation="MRSLLLSTVGINTFDYLGSILSYVVIAIPIFSGVYGDLSPAELS
                     TLVSKNAFVCIYLISCFTQLIDLSTTLSDVAGYTHRIGQLRETLLDMSLKSQDCEILG
                     ESEWGLDTPPGWPAAEPADTAFLLERVSISAPSSDKPLIKDLSLKISEGQSLLITGNT
                     GTGKTSLLRVLGGLWTSTRGSVQMLTDFGPHGVLFLPQKPFFTDGTLREQVIYPLKEV
                     YPDSGSADDERILRFLELAGLSNLVARTEGLDQQVDWNWYDVLSPGEMQRLSFARLFY
                     LQPKYAVLDEATSALTEEVESELYRIGQQLGMTFISVGHRQSLEKFHSLVLKLCGGGR
                     WELMRIKVE"
     exon            614..735
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            736..827
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            828..917
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1126
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1218
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1255
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1256..1305
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1306..1358
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1359..1435
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1436..1551
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1552..2812
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2078..2083
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: ATTAAA"
     regulatory      2088..2093
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: ATTACA"
     polyA_site      2110
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="major polyA site"
     polyA_site      2118
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
     regulatory      2639..2644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: AATAAA"
     polyA_site      2658
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
     regulatory      2786..2791
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD4"
                     /gene_synonym="ABC41; EST352188; MAHCJ; P70R; P79R; PMP69;
                     PXMP1L"
                     /note="hexamer: AATAAA"
     polyA_site      2812
                     /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 ccaaagcaca ggctggctcg ggcctgtgag catcttcggg tatttcatcc
      481 tggggaccgt ggtgaacaaa actttgatgg gccccattgt gatgaagctg gtgcatcagg
      541 agaagctgga gggagatttt aggttcaagc acatgcagat tcgggtgaat gcggagcctg
      601 ctgctttcta cagtcggcat caacaccttt gactatctgg gcagcatcct gagttacgtt
      661 gtcatcgcaa tccccatttt cagcggggtc tatggagacc tgagtcccgc agagcttagc
      721 accctggtca gcaagaatgc ctttgtgtgc atctacctca tcagctgctt cacccagctc
      781 atcgacctgt ccacgacgct ctcagatgtg gctggctaca cgcacagaat tgggcagctt
      841 cgggagacgc ttctggacat gtccctgaag tcacaggact gcgagatcct gggcgagagc
      901 gagtggggct tggacacacc cccagggtgg ccagcggcag agccagcaga cacagcattt
      961 ctccttgagc gggtctccat ctctgccccc tcctctgaca aacccctaat caaggatctg
     1021 agcctaaaga tctccgaggg acagagcctg ctcatcacag gcaacacggg cactggcaag
     1081 acctccttgc tccgggttct gggtggcctc tggacgagta cacggggctc agtgcagatg
     1141 ctgacggact ttgggcccca tggggtgcta ttcctgccac aaaagccatt cttcactgac
     1201 gggacccttc gggagcaggt gatatatccc ctgaaggagg tctaccccga ctcaggttct
     1261 gccgatgatg agaggatctt gaggttcttg gaattggcag gcctgtccaa cttggtggca
     1321 aggacagagg gcctggacca gcaggtggac tggaactggt atgatgttct gtccccgggg
     1381 gagatgcaac ggctctcctt tgcccgactc ttctacctgc agccgaagta cgcagtgctt
     1441 gatgaagcca ccagtgccct gacagaggaa gtggagagcg agctctatcg catcggccag
     1501 cagctgggga tgacgttcat cagtgtggga catcggcaga gccttgagaa gtttcattcc
     1561 ttggttctga aactctgtgg aggaggaaga tgggagctga tgagaatcaa agtggaatga
     1621 agctctggct tttggaagga gagccacact gtggcgggtc ggcggccctc aggagagacc
     1681 aggaggactg acagcgaaga tcgagctcag gttcgccaca tagatcccgt gcaggagcca
     1741 catgggtcct gtgcaggacc cctagcagtg gtgggctgag cccaggtcta ggtttctgtg
     1801 ggggacactg aatctcccag tgttcagtct cccaggactc tgctgcctca gccagagcct
     1861 ccatatgctt gaagtgctga ttacctacaa atgatttcag atcatgtttg ctaaagagaa
     1921 atctggaagt gtgagatctg taagaaatga aagaaatgac tcttggagtc aagagatctg
     1981 gaaatctttt aatcagttaa attgtgcagc aatagatttt taactttaac tgaccattta
     2041 agttttttaa taagtttttt acaaagaaaa gttaaacatt aaaaagaatt acagctttct
     2101 gtcttctcta tcatggaatg atctttttta ttgaatctcc agatttgtat ttgacagctt
     2161 ggtgggaagg gaagcacact ctgctgttct ggaatcttat gcccagggtt tttcacttct
     2221 ccccacatct ccctttccac ttgccagtgt tgtgtagtta gaacctgaac cactaacttc
     2281 caggggcctt tggtctgccc taccttaacc caaatgaaag taaatccctt tccccttagc
     2341 caaaataagg ttgggttttc taaaaaaata gtctatatta gggaacaaca acagcaaatt
     2401 agacaaaacc cagaaagcac aaagcatgag gtggagttac tgtgcccaaa gtcctcactc
     2461 agaccagtgc ccctccagtt cagttgtcta tgtattacct tccttacctt cataattttt
     2521 gccaggcttc tgtacttcta gtacttgagt tacttaatat ttttaaaaac aaacctttta
     2581 agtttaaatg gatttttaag tgaaatttta cacttaacat agatggaaag taactaaaaa
     2641 taaatacaag aaaaaccatc ggtgttatta acttacggct agatgctgtt gcctgcatag
     2701 actctgggcc tgaggcttgt tcattttgta aaaaagagag gtgaggagtt agacggactg
     2761 gcactcaact gagatttttc tccttaataa aatcagaaag atggagtgag aa
//
