LOCUS       NM_000033               3669 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens ATP binding cassette subfamily D member 1 (ABCD1),
            mRNA.
ACCESSION   NM_000033
VERSION     NM_000033.4
KEYWORDS    RefSeq; MANE Select.
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 3669)
  AUTHORS   Xiong,C., Jia,L.N., Xiong,W.X., Wu,X.T., Xiong,L.L., Wang,T.H.,
            Zhou,D., Hong,Z., Liu,Z. and Tang,L.
  TITLE     Structural insights into substrate recognition and translocation of
            human peroxisomal ABC transporter ALDP
  JOURNAL   Signal Transduct Target Ther 8 (1), 74 (2023)
   PUBMED   36810450
  REMARK    GeneRIF: Structural insights into substrate recognition and
            translocation of human peroxisomal ABC transporter ALDP.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3669)
  AUTHORS   Jia,Y., Zhang,Y., Wang,W., Lei,J., Ying,Z. and Yang,G.
  TITLE     Structural and functional insights of the human peroxisomal ABC
            transporter ALDP
  JOURNAL   Elife 11, e75039 (2022)
   PUBMED   36374178
  REMARK    GeneRIF: Structural and functional insights of the human
            peroxisomal ABC transporter ALDP.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3669)
  AUTHORS   Chen,Z.P., Xu,D., Wang,L., Mao,Y.X., Li,Y., Cheng,M.T., Zhou,C.Z.,
            Hou,W.T. and Chen,Y.
  TITLE     Structural basis of substrate recognition and translocation by
            human very long-chain fatty acid transporter ABCD1
  JOURNAL   Nat Commun 13 (1), 3299 (2022)
   PUBMED   35676282
  REMARK    GeneRIF: Structural basis of substrate recognition and
            translocation by human very long-chain fatty acid transporter
            ABCD1.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3669)
  AUTHORS   Mallack,E.J., Gao,K., Engelen,M. and Kemp,S.
  TITLE     Structure and Function of the ABCD1 Variant Database: 20 Years, 940
            Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy
  JOURNAL   Cells 11 (2), 283 (2022)
   PUBMED   35053399
  REMARK    GeneRIF: Structure and Function of the ABCD1 Variant Database: 20
            Years, 940 Pathogenic Variants, and 3400 Cases of
            Adrenoleukodystrophy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3669)
  AUTHORS   Kok,F., Neumann,S., Sarde,C.O., Zheng,S., Wu,K.H., Wei,H.M.,
            Bergin,J., Watkins,P.A., Gould,S., Sack,G. et al.
  TITLE     Mutational analysis of patients with X-linked adrenoleukodystrophy
  JOURNAL   Hum Mutat 6 (2), 104-115 (1995)
   PUBMED   7581394
REFERENCE   6  (bases 1 to 3669)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   7  (bases 1 to 3669)
  AUTHORS   Raymond,G.V., Moser,A.B. and Fatemi,A.
  TITLE     X-Linked Adrenoleukodystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301491
REFERENCE   8  (bases 1 to 3669)
  AUTHORS   Feil,R., Aubourg,P., Mosser,J., Douar,A.M., Le Paslier,D.,
            Philippe,C. and Mandel,J.L.
  TITLE     Adrenoleukodystrophy: a complex chromosomal rearrangement in the
            Xq28 red/green-color-pigment gene region indicates two possible
            gene localizations
  JOURNAL   Am J Hum Genet 49 (6), 1361-1371 (1991)
   PUBMED   1746561
REFERENCE   9  (bases 1 to 3669)
  AUTHORS   Moser,H.W., Moser,A.E., Singh,I. and O'Neill,B.P.
  TITLE     Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis,
            and therapy
  JOURNAL   Ann Neurol 16 (6), 628-641 (1984)
   PUBMED   6524872
REFERENCE   10 (bases 1 to 3669)
  AUTHORS   Migeon,B.R., Moser,H.W., Moser,A.B., Axelman,J., Sillence,D. and
            Norum,R.A.
  TITLE     Adrenoleukodystrophy: evidence for X linkage, inactivation, and
            selection favoring the mutant allele in heterozygous cells
  JOURNAL   Proc Natl Acad Sci U S A 78 (8), 5066-5070 (1981)
   PUBMED   6795626
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U52111.3, BC025358.1 and
            BC015541.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000033.3.
            
            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. This
            peroxisomal membrane protein is likely involved in the peroxisomal
            transport or catabolism of very long chain fatty acids. Defects in
            this gene have been identified as the underlying cause of
            adrenoleukodystrophy, an X-chromosome recessively inherited
            demyelinating disorder of the nervous system. [provided by RefSeq,
            Jul 2008].
            
            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 :: BC025358.1, Z21876.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000218104.6/ ENSP00000218104.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                U52111.3           108065-108076
            13-3039             BC025358.1         1-3027
            3040-3657           BC015541.1         3009-3626
            3658-3669           BC025358.1         3646-3657
FEATURES             Location/Qualifiers
     source          1..3669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3669
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="ATP binding cassette subfamily D member 1"
                     /db_xref="GeneID:215"
                     /db_xref="HGNC:HGNC:61"
                     /db_xref="MIM:300371"
     exon            1..1311
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /inference="alignment:Splign:2.1.0"
     CDS             412..2649
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /EC_number="7.6.2.4"
                     /note="adrenoleukodystrophy protein; ATP-binding cassette,
                     sub-family D (ALD), member 1"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family D member 1"
                     /protein_id="NP_000024.2"
                     /db_xref="CCDS:CCDS14728.1"
                     /db_xref="GeneID:215"
                     /db_xref="HGNC:HGNC:61"
                     /db_xref="MIM:300371"
                     /translation="MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPAR
                     GLQAPAGEPTQEASGVAAAKAGMNRVFLQRLLWLLRLLFPRVLCRETGLLALHSAALV
                     SRTFLSVYVARLDGRLARCIVRKDPRAFGWQLLQWLLIALPATFVNSAIRYLEGQLAL
                     SFRSRLVAHAYRLYFSQQTYYRVSNMDGRLRNPDQSLTEDVVAFAASVAHLYSNLTKP
                     LLDVAVTSYTLLRAARSRGAGTAWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRK
                     GELRYMHSRVVANSEEIAFYGGHEVELALLQRSYQDLASQINLILLERLWYVMLEQFL
                     MKYVWSASGLLMVAVPIITATGYSESDAEAVKKAALEKKEEELVSERTEAFTIARNLL
                     TAAADAIERIMSSYKEVTELAGYTARVHEMFQVFEDVQRCHFKRPRELEDAQAGSGTI
                     GRSGVRVEGPLKIRGQVVDVEQGIICENIPIVTPSGEVVVASLNIRVEEGMHLLITGP
                     NGCGKSSLFRILGGLWPTYGGVLYKPPPQRMFYIPQRPYMSVGSLRDQVIYPDSVEDM
                     QRKGYSEQDLEAILDVVHLHHILQREGGWEAMCDWKDVLSGGEKQRIGMARMFYHRPK
                     YALLDECTSAVSIDVEGKIFQAAKDAGIALLSITHRPSLWKYHTHLLQFDGEGGWKFE
                     KLDSAARLSLTEEKQRLEQQLAGIPKMQRRLQELCQILGEAVAPAHVPAPSPQGPGGL
                     QGAST"
     exon            1312..1492
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1635
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..1804
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /inference="alignment:Splign:2.1.0"
     exon            1805..1899
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /inference="alignment:Splign:2.1.0"
     exon            1900..2045
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..2191
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /inference="alignment:Splign:2.1.0"
     exon            2192..2276
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /inference="alignment:Splign:2.1.0"
     exon            2277..2402
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /inference="alignment:Splign:2.1.0"
     exon            2403..3669
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3636..3641
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="hexamer: AGTAAA"
     polyA_site      3669
                     /gene="ABCD1"
                     /gene_synonym="ABC42; ALD; ALDP; AMN"
                     /note="major polyA site"
ORIGIN      
        1 actgtcgctt cagccaggct gcggagcgga cggacgcgcc tggtgccccg gggaggggcg
       61 ccaccggggg aggaggagga ggagaaggtg gagaggaaga gacgccccct ctgcccgaga
      121 cctctcaagg ccctgacctc aggggccagg gcactgacag gacaggagag ccaagttcct
      181 ccacttgggc tgcccgaaga ggccgcgacc ctggagggcc ctgagcccac cgcaccaggg
      241 gccccagcac caccccgggg gcctaaagcg acagtctcag gggccatcgc aaggtttcca
      301 gttgcctaga caacaggccc agggtcagag caacaatcct tccagccacc tgcctcaact
      361 gctgccccag gcaccagccc cagtccctac gcggcagcca gcccaggtga catgccggtg
      421 ctctccaggc cccggccctg gcgggggaac acgctgaagc gcacggccgt gctcctggcc
      481 ctcgcggcct atggagccca caaagtctac cccttggtgc gccagtgcct ggccccggcc
      541 aggggtcttc aggcgcccgc cggggagccc acgcaggagg cctccggggt cgcggcggcc
      601 aaagctggca tgaaccgggt attcctgcag cggctcctgt ggctcctgcg gctgctgttc
      661 ccccgggtcc tgtgccggga gacggggctg ctggccctgc actcggccgc cttggtgagc
      721 cgcaccttcc tgtcggtgta tgtggcccgc ctggacggaa ggctggcccg ctgcatcgtc
      781 cgcaaggacc cgcgggcttt tggctggcag ctgctgcagt ggctcctcat cgccctccct
      841 gctaccttcg tcaacagtgc catccgttac ctggagggcc aactggccct gtcgttccgc
      901 agccgtctgg tggcccacgc ctaccgcctc tacttctccc agcagaccta ctaccgggtc
      961 agcaacatgg acgggcggct tcgcaaccct gaccagtctc tgacggagga cgtggtggcc
     1021 tttgcggcct ctgtggccca cctctactcc aacctgacca agccactcct ggacgtggct
     1081 gtgacttcct acaccctgct tcgggcggcc cgctcccgtg gagccggcac agcctggccc
     1141 tcggccatcg ccggcctcgt ggtgttcctc acggccaacg tgctgcgggc cttctcgccc
     1201 aagttcgggg agctggtggc agaggaggcg cggcggaagg gggagctgcg ctacatgcac
     1261 tcgcgtgtgg tggccaactc ggaggagatc gccttctatg ggggccatga ggtggagctg
     1321 gccctgctac agcgctccta ccaggacctg gcctcgcaga tcaacctcat ccttctggaa
     1381 cgcctgtggt atgttatgct ggagcagttc ctcatgaagt atgtgtggag cgcctcgggc
     1441 ctgctcatgg tggctgtccc catcatcact gccactggct actcagagtc agatgcagag
     1501 gccgtgaaga aggcagcctt ggaaaagaag gaggaggagc tggtgagcga gcgcacagaa
     1561 gccttcacta ttgcccgcaa cctcctgaca gcggctgcag atgccattga gcggatcatg
     1621 tcgtcgtaca aggaggtgac ggagctggct ggctacacag cccgggtgca cgagatgttc
     1681 caggtatttg aagatgttca gcgctgtcac ttcaagaggc ccagggagct agaggacgct
     1741 caggcggggt ctgggaccat aggccggtct ggtgtccgtg tggagggccc cctgaagatc
     1801 cgaggccagg tggtggatgt ggaacagggg atcatctgcg agaacatccc catcgtcacg
     1861 ccctcaggag aggtggtggt ggccagcctc aacatcaggg tggaggaagg catgcatctg
     1921 ctcatcacag gccccaatgg ctgcggcaag agctccctgt tccggatcct gggtgggctc
     1981 tggcccacgt acggtggtgt gctctacaag cccccacccc agcgcatgtt ctacatcccg
     2041 cagaggccct acatgtctgt gggctccctg cgtgaccagg tgatctaccc ggactcagtg
     2101 gaggacatgc aaaggaaggg ctactcggag caggacctgg aagccatcct ggacgtcgtg
     2161 cacctgcacc acatcctgca gcgggaggga ggttgggagg ctatgtgtga ctggaaggac
     2221 gtcctgtcgg gtggcgagaa gcagagaatc ggcatggccc gcatgttcta ccacaggccc
     2281 aagtacgccc tcctggatga atgcaccagc gccgtgagca tcgacgtgga aggcaagatc
     2341 ttccaggcgg ccaaggacgc gggcattgcc ctgctctcca tcacccaccg gccctccctg
     2401 tggaaatacc acacacactt gctacagttc gatggggagg gcggctggaa gttcgagaag
     2461 ctggactcag ctgcccgcct gagcctgacg gaggagaagc agcggctgga gcagcagctg
     2521 gcgggcattc ccaagatgca gcggcgcctc caggagctct gccagatcct gggcgaggcc
     2581 gtggccccag cgcatgtgcc ggcacctagc ccgcaaggcc ctggtggcct ccagggtgcc
     2641 tccacctgac acaaccgtcc ccggcccctg ccccgccccc aagctcggat cacatgaagg
     2701 agacagcagc acccacccat gcacgcaccc cgcccctgca tgcctggccc ctcctcctag
     2761 aaaacccttc ccgccctcgg gaaagtagat gtggagggtg gcgccctgcg taaccctcgc
     2821 cctgtccctc ccactccctg ggggcgctgt tccacagtga ctgggccctg tccagggcag
     2881 tgagtcctct actttgctcc gtggaggaag ctggggtaca aggggcccag tgctggccac
     2941 acagcagcgc agccgagccc caggagcccg tcaggccaca gcccctggca ctgcaggtgg
     3001 cctccctcca gagactcgag tccccatgat tccctcctcg tcagtctctc aaagacccca
     3061 tggtccatcc cctgagggtg gtcagccaag gctcccgttc cgtgggatgc cataaaagcc
     3121 gcccagtggg acccacagtc acacagagcg cctcacctgc atcctctccc ccacaagagc
     3181 cccaaagatc ccacgggaga ggggagaggg acgcacagca ctgcctgcca agcgagaatg
     3241 caggccccgc cccctcggcc cctcaccacc tctttctaca gcctaattta ttggattccc
     3301 tattcgtagc catctccgtg gccaatgtga ctaccgtgcc agcagcgggg gcggcccagc
     3361 ctctgagtcc cgtggggccc cggctcccac cggtgccaaa cccagcccct gcggccgtca
     3421 ccccgccagc ctacactgcc agccgccacc ggggcacacg ggcctctgct tgccagccag
     3481 gagtgcggac accatgttcc cagctcagtg ccaaagaggg gtcaccaggg ggagctgtct
     3541 gcggagccag cgcctgcccg agagagaccc caccgccacc gtgtgccttt cccgggccct
     3601 cagccctcgg gccgggcacc acccccagtc cccccagtaa aagcctccac tggcaaatgc
     3661 agtccttcc
//
