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ATP-binding cassette sub-family D member 1; adrenoleukodystrophy protein; ALDP (ABCD1, ALD)
Function:
1) probable transporter
2) nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity
3) forms heterodimers with ABCD2 & ABCD3/PMP70
4) dimerization (homo 9r heterodimer) necessary to form an active transporter
5) interacts with PEX1
Structure:
- belongs to the ABC transporter family, ALD subfamily
- contains 1 ABC transmembrane type-1 domain
- contains 1 ABC transporter domain
Compartment: peroxisomal membrane
Pathology:
1) defects in ABCD1 are the cause of X-linked adrenoleukodystrophy
2) microdeletions in ABCD1 are involved in the contiguous ABCD1/DXS1375E deletion syndrome (CADDS)
Laboratory:
- adrenoleukodystrophy protein in fibroblasts
General
ATP-binding cassette sub-family D (ABC transporter-D, ABCD)
glycoprotein
membrane protein
phosphoprotein
Properties
SIZE: entity length = 745 aa
MW = 83 kD
COMPARTMENT: peroxisome
MOTIF: PEX19 interaction {67-186}
MOTIF: transmembrane domain {92-112}
ABC transmembrane type-1 {94-386}
MOTIF: transmembrane domain {131-151}
N-glycosylation site {N214}
transmembrane domain {238-258}
transmembrane domain {333-353}
glycosylation site
active site
MOTIF: adenine nucleotide-binding site
transmembrane domain {473-493}
ABC transporter {474-700}
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 507-514
Ser phosphorylation site {S733}
Database Correlations
OMIM correlations
MORBIDMAP 300371
UniProt P33897
Entrez Gene 215
References
- UniProt :accession P33897
- X-ALD gene mutation database
http://www.x-ald.nl/
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCD1