Molecular Target Synopsis
Overview
Domains and Structures
Drugs and Clinical Candidates
Druggability
Chemistry
Ligand Efficiency Plot
Pathways
Family Cladogram
Interaction Network
Gene Expression
Gene Copy Number Variation
RNAi
Mutations
Germline Genetics

ABCD1 (P33897) - Overview - Molecular Target Synopsis

Protein


ABCD1, ATP-binding cassette sub-family D member 1
UniProt P33897

Also Known as ABCD1_HUMAN, ABCD1, ALD

Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis (PubMed:15682271, PubMed:11248239, PubMed:16946495). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation (PubMed:23671276). Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial function like, mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs. Can form homooligomers, homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter (PubMed:17609205, PubMed:10551832). Interacts with PEX19; facilitates ABCD1 insertion into the peroxisome membrane (PubMed:10777694, PubMed:10704444).

Isoforms / Transcripts (Protein Coding)


Sub-cellular localization


UniProt: ABCD1 is active in the following subcellular-locations: endoplasmic reticulum membrane, lysosome membrane, mitochondrion membrane, peroxisome membrane.
GO terms: ABCD1 is active in the following subcellular-locations: cytoplasm, cytosol, endoplasmic reticulum membrane, integral component of peroxisomal membrane, lysosomal membrane, membrane, mitochondrial membrane, perinuclear region of cytoplasm, peroxisomal membrane, peroxisome.



UniProt
GO terms

Gene Copy Number Variation


In COSMIC - Cell Lines Project ABCD1 has gain in 1 cell-lines, loss in 17 cell-lines and no signal in 986 cell-lines. (see details)

Gene Expression


In NCI60, the highest expressing cell lines are: MALME_3M, MDA_N, SK_MEL_2

In Array Express (RNA-seq of 675 commonly used human cancer cell lines), the highest expressing cell lines are: HEL, JHH-2, SK-MEL-28

In Array Express (RNA-seq of long poly adenylated RNA and long non poly adenylated RNA from ENCODE cell lines), the highest expressing cell lines are: SK-N-SH, CD14-positive monocyte, NHLF

(see details)