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

ABCD3 (P28288) - Overview - Molecular Target Synopsis

Protein


ABCD3, ATP-binding cassette sub-family D member 3
UniProt P28288

Also Known as ABCD3_HUMAN, ABCD3, PMP70, PXMP1

Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239). Can form heterodimers with ABCD1/ALD and ABCD2/ALDR. Dimerization is necessary to form an active transporter. Interacts with PEX19.

Isoforms / Transcripts (Protein Coding)


Sub-cellular localization


UniProt: ABCD3 is active in the following subcellular-locations: peroxisome membrane.
GO terms: ABCD3 is active in the following subcellular-locations: cytosol, integral component of membrane, intracellular membrane-bounded organelle, membrane, mitochondrion, peroxisomal matrix, peroxisomal membrane, peroxisome.



UniProt
GO terms

Gene Copy Number Variation


In COSMIC - Cell Lines Project ABCD3 has gain in 6 cell-lines, loss in 2 cell-lines and no signal in 997 cell-lines. (see details)

Gene Expression


In NCI60, the highest expressing cell lines are: MDA_MB_231, HS578T, SNB_75

In Array Express (RNA-seq of 675 commonly used human cancer cell lines), the highest expressing cell lines are: RERF-LC-KJ, G122, DMS 53

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: NHLF, HMEC, AG445

(see details)