Molecule Information

General Information of the Molecule (ID: Mol04361)

• Name: ATP-binding cassette sub-family D member 1 (ABCD1) ,Homo sapiens
• Synonyms: Adrenoleukodystrophy protein
• Molecule Type: Protein
• Gene Name: ABCD1
• Gene ID: 215
• Sequence:
  MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPARGLQAPAGEPTQEASGV
  AAAKAGMNRVFLQRLLWLLRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLA
  R CIVRKDPRAFGWQLLQWLLIALPATFVNSAIRYLEGQLALSFRSRLVAHAYRLYFSQQ
  TY YRVSNMDGRLRNPDQSLTEDVVAFAASVAHLYSNLTKPLLDVAVTSYTLLRAARSRG
  AGT AWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRKGELRYMHSRVVANSEEIAFY
  GGHE VELALLQRSYQDLASQINLILLERLWYVMLEQFLMKYVWSASGLLMVAVPIITAT
  GYSES DAEAVKKAALEKKEEELVSERTEAFTIARNLLTAAADAIERIMSSYKEVTELAG
  YTARVH EMFQVFEDVQRCHFKRPRELEDAQAGSGTIGRSGVRVEGPLKIRGQVVDVEQG
  IICENIP IVTPSGEVVVASLNIRVEEGMHLLITGPNGCGKSSLFRILGGLWPTYGGVLY
  KPPPQRMF YIPQRPYMSVGSLRDQVIYPDSVEDMQRKGYSEQDLEAILDVVHLHHILQR
  EGGWEAMCD WKDVLSGGEKQRIGMARMFYHRPKYALLDECTSAVSIDVEGKIFQAAKDA
  GIALLSITHR PSLWKYHTHLLQFDGEGGWKFEKLDSAARLSLTEEKQRLEQQLAGIPKM
  QRRLQELCQIL GEAVAPAHVPAPSPQGPGGLQGAST
• Function: ATP-dependent transporter of the ATP-binding cassette family involved in the transport of very long chain fatty acid -CoA from the cytosol to the peroxisome lumen . Coupled to the ATP-dependent transporter activity also has a fatty acyl-CoA thioesteraseactivity and hydrolyzes VLCFA-CoA into VLCFA prior their ATP-dependent transport into peroxisomes, the ACOT activity is essentialduring this transport process . Thus,plays a role in regulation of VLCFAs and energy metabolism namely, inthe degradation and biosynthesis of fatty acids by beta-oxidation,mitochondrial function and microsomal fatty acid elongation. Involved in several processes;namely, controls the active myelination phase by negatively regulatingthe microsomal fatty acid elongation activity and may also play a rolein axon and myelin maintenance. Also controls the cellular response tooxidative stress by regulating mitochondrial functions such asmitochondrial oxidative phosphorylation and depolarization. And finallycontrols the inflammatory response by positively regulating peroxisomalbeta-oxidation of VLCFAs .{ECO:0000250|UniProtKB:P48410, ECO:0000269|PubMed:11248239,ECO:0000269|PubMed:15682271, ECO:0000269|PubMed:16946495,ECO:0000269|PubMed:18757502, ECO:0000269|PubMed:21145416,ECO:0000269|PubMed:23671276, ECO:0000269|PubMed:29397936,ECO:0000269|PubMed:33500543}.
• Uniprot ID: ABCD1_HUMAN
• Ensembl ID: ENSG0000010198612
• HGNC ID: HGNC:61

Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens

Type(s) of Resistant Mechanism of This Molecule

  EADR: Epigenetic Alteration of DNA, RNA or Protein

Drug Resistance Data Categorized by Drug

Approved Drug(s) 1 drug(s) in total

Cycloserine

Drug Resistance Data Categorized by Their Corresponding Mechanisms

Epigenetic Alteration of DNA, RNA or Protein (EADR)

Disease Class: Tuberculosis [ICD-11: 1B10.0] [1]

• Resistant Disease: Tuberculosis [ICD-11: 1B10.0]
• Resistant Drug: Cycloserine
• Molecule Alteration: Mutation; rpsL gene at the 88th amino acid
• Experimental Note: Revealed Based on the Cell Line Data
• Experiment for Molecule Alteration: GeneSeq assay; Bioinformatics assay
• Mechanism Description: Out of total 112 mycobacterial positive cultures, five?M. bovis?were isolated and underwent WGS. All sequenced strains belonged to?Mycobacterium tuberculosis var bovis, spoligotype BOV_1; BOV_11. Resistance gene mutations were determined in 100% of strains to pyrazinamide (pncA?and?rpsA), isoniazid (KatG?and?ahpC), ethambutol (embB,?embC,?embR?and?ubiA), streptomycin (rpsl) and fluoroquinolones (gyrA?and?gyrB). Rifampin (rpoB?and?rpoC) and delamanid (fbiC) resistance genes were found in 80% of strains. The major represented virulence classes were the secretion system, cell surface components and regulation system.

References

• Ref 1: Genetic diversities and drug resistance in Mycobacterium bovis isolates from zoonotic tuberculosis using whole genome sequencing. BMC Genomics. 2024 Nov 1;25(1):1024.