Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
PhosphoSitePlus
HomeAbout PhosphoSiteUsing PhosphoSiteprivacy & cookiesCuration ProcessContact
logos LINCs Logo Mt Sinai Logo NIH Logo NCI Logo
Protein Page:
ABCD1 (human)

Overview
ABCD1 Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. Defects in ABCD1 are the cause of adrenoleukodystrophy X- linked (X-ALD). X-ALD is a peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31. Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. Note: This description may include information from UniProtKB.
Protein type: Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Transporter; Transporter, ABC family
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: cytoplasm; cytosol; integral to peroxisomal membrane; membrane; perinuclear region of cytoplasm; peroxisomal membrane; peroxisome
Molecular Function: ATP binding; ATPase activity; enzyme binding; identical protein binding; long-chain fatty acid transporter activity; peroxisomal fatty acyl CoA transporter activity; protein binding; protein homodimerization activity
Biological Process: fatty acid beta-oxidation; fatty acid beta-oxidation using acyl-CoA oxidase; linoleic acid metabolic process; long-chain fatty acid catabolic process; peroxisomal long-chain fatty acid import; peroxisome organization and biogenesis; transmembrane transport; very-long-chain fatty acid catabolic process
Disease: Adrenoleukodystrophy
Reference #:  P33897 (UniProtKB)
Alt. Names/Synonyms: ABC42; ABCD1; Adrenoleukodystrophy protein; ALD; ALDP; AMN; ATP-binding cassette sub-family D member 1; ATP-binding cassette, sub-family D (ALD), member 1
Gene Symbols: ABCD1
Molecular weight: 82,937 Da
Basal Isoelectric point: 9.09  Predict pI for various phosphorylation states
Select Structure to View Below

ABCD1

Protein Structure Not Found.


STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Scansite  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene