Details for: ABCD1
Associated with
Other Information
Genular Protein ID: 3541784732
Symbol: ABCD1_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8441467
Title: Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
PubMed ID: 8441467
DOI: 10.1038/361726a0
PubMed ID: 15772651
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 10551832
Title: Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
PubMed ID: 10551832
PubMed ID: 11248239
Title: Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.
PubMed ID: 11248239
PubMed ID: 10777694
Title: Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.
PubMed ID: 10777694
PubMed ID: 10704444
Title: PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.
PubMed ID: 10704444
PubMed ID: 16213491
Title: X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism.
PubMed ID: 16213491
PubMed ID: 15781447
Title: Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved.
PubMed ID: 15781447
PubMed ID: 15682271
Title: Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.
PubMed ID: 15682271
PubMed ID: 16946495
Title: ATP-binding and -hydrolysis activities of ALDP (ABCD1) and ALDRP (ABCD2), human peroxisomal ABC proteins, overexpressed in Sf21 cells.
PubMed ID: 16946495
DOI: 10.1248/bpb.29.1836
PubMed ID: 17609205
Title: Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3).
PubMed ID: 17609205
PubMed ID: 18757502
Title: The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters.
PubMed ID: 18757502
DOI: 10.1096/fj.08-110866
PubMed ID: 21145416
Title: Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid beta-oxidation.
PubMed ID: 21145416
PubMed ID: 23671276
Title: Impaired very long-chain acyl-CoA beta-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.
PubMed ID: 23671276
PubMed ID: 18691976
Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
PubMed ID: 18691976
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 29397936
Title: Characterization of human ATP-binding cassette protein subfamily D reconstituted into proteoliposomes.
PubMed ID: 29397936
PubMed ID: 33500543
Title: Acyl-CoA thioesterase activity of peroxisomal ABC protein ABCD1 is required for the transport of very long-chain acyl-CoA into peroxisomes.
PubMed ID: 33500543
PubMed ID: 7904210
Title: Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.
PubMed ID: 7904210
PubMed ID: 7849723
Title: Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
PubMed ID: 7849723
PubMed ID: 8040304
Title: Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
PubMed ID: 8040304
DOI: 10.1172/jci117363
PubMed ID: 7825602
Title: Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
PubMed ID: 7825602
PubMed ID: 7717396
Title: Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.
PubMed ID: 7717396
PubMed ID: 7668254
Title: Altered expression of ALDP in X-linked adrenoleukodystrophy.
PubMed ID: 7668254
PubMed ID: 7860075
Title: De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.
PubMed ID: 7860075
DOI: 10.1007/bf00209412
PubMed ID: 7581394
Title: Mutational analysis of patients with X-linked adrenoleukodystrophy.
PubMed ID: 7581394
PubMed ID: 7561948
Title: Molecular analysis of X-linked adrenoleukodystrophy patients.
PubMed ID: 7561948
PubMed ID: 8651290
Title: Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
PubMed ID: 8651290
PubMed ID: 8566952
Title: Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
PubMed ID: 8566952
DOI: 10.1007/bf02265264
PubMed ID: 9452087
Title: First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
PubMed ID: 9452087
PubMed ID: 9584268
Title: A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation.
PubMed ID: 9584268
PubMed ID: 9553942
Title: Clinical and genetic aspects of X-linked adrenoleukodystrophy.
PubMed ID: 9553942
PubMed ID: 10190819
Title: Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.
PubMed ID: 10190819
PubMed ID: 10480364
Title: X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
PubMed ID: 10480364
PubMed ID: 10369742
Title: Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
PubMed ID: 10369742
PubMed ID: 10227685
Title: X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
PubMed ID: 10227685
PubMed ID: 10737980
Title: Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
PubMed ID: 10737980
DOI: 10.1002/(sici)1098-1004(200004)15:4<348::aid-humu7>3.0.co;2-n
PubMed ID: 10980539
Title: Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.
PubMed ID: 10980539
DOI: 10.1002/1098-1004(200009)16:3<271::aid-humu15>3.0.co;2-d
PubMed ID: 11810273
Title: Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.
PubMed ID: 11810273
PubMed ID: 11438993
Title: Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange.
PubMed ID: 11438993
DOI: 10.1002/humu.1149
PubMed ID: 11748843
Title: ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
PubMed ID: 11748843
DOI: 10.1002/humu.1227
PubMed ID: 11992258
Title: Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
PubMed ID: 11992258
DOI: 10.1086/340849
PubMed ID: 15643618
Title: Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
PubMed ID: 15643618
DOI: 10.1002/humu.9303
PubMed ID: 34337821
PubMed ID: 21889498
Title: Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
PubMed ID: 21889498
PubMed ID: 21700483
Title: X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
PubMed ID: 21700483
PubMed ID: 20661612
Title: Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
PubMed ID: 20661612
PubMed ID: 21966424
Title: Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.
PubMed ID: 21966424
PubMed ID: 23651979
Title: Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
PubMed ID: 23651979
DOI: 10.1159/000346680
PubMed ID: 26686776
Title: Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.
PubMed ID: 26686776
PubMed ID: 28456143
Title: A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene.
PubMed ID: 28456143
Sequence Information:
- Length: 745
- Mass: 82937
- Checksum: 82F90905F71FFDC8
- Sequence:
MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA GEPTQEASGV AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA LVSRTFLSVY VARLDGRLAR CIVRKDPRAF GWQLLQWLLI ALPATFVNSA IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY YRVSNMDGRL RNPDQSLTED VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT AWPSAIAGLV VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP IITATGYSES DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE RIMSSYKEVT ELAGYTARVH EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI GRSGVRVEGP LKIRGQVVDV EQGIICENIP IVTPSGEVVV ASLNIRVEEG MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF YIPQRPYMSV GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA GIALLSITHR PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE QQLAGIPKMQ RRLQELCQIL GEAVAPAHVP APSPQGPGGL QGAST
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.