ABCD3

Protein identityUniProt · HPA

UniProt accession

P28288

Gene

ABCD3

Ensembl

ENSG00000117528

Chromosome

1

Canonical length

659 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

Subcellular location

Peroxisomes

Quaternary structure

Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

659 residues, UniProt reviewed canonical sequence.

>P28288|ABCD3
     1  MAAFSKYLTA RNSSLAGAAF LLLCLLHKRR RALGLHGKKS GKPPLQNNEK EGKKERAVVD
    61  KVFFSRLIQI LKIMVPRTFC KETGYLVLIA VMLVSRTYCD VWMIQNGTLI ESGIIGRSRK
   121  DFKRYLLNFI AAMPLISLVN NFLKYGLNEL KLCFRVRLTK YLYEEYLQAF TYYKMGNLDN
   181  RIANPDQLLT QDVEKFCNSV VDLYSNLSKP FLDIVLYIFK LTSAIGAQGP ASMMAYLVVS
   241  GLFLTRLRRP IGKMTITEQK YEGEYRYVNS RLITNSEEIA FYNGNKREKQ TVHSVFRKLV
   301  EHLHNFILFR FSMGFIDSII AKYLATVVGY LVVSRPFLDL SHPRHLKSTH SELLEDYYQS
   361  GRMLLRMSQA LGRIVLAGRE MTRLAGFTAR ITELMQVLKD LNHGKYERTM VSQQEKGIEG
   421  VQVIPLIPGA GEIIIADNII KFDHVPLATP NGDVLIRDLN FEVRSGANVL ICGPNGCGKS
   481  SLFRVLGELW PLFGGRLTKP ERGKLFYVPQ RPYMTLGTLR DQVIYPDGRE DQKRKGISDL
   541  VLKEYLDNVQ LGHILEREGG WDSVQDWMDV LSGGEKQRMA MARLFYHKPQ FAILDECTSA
   601  VSVDVEGYIY SHCRKVGITL FTVSHRKSLW KHHEYYLHMD GRGNYEFKQI TEDTVEFGS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCD3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

118 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCD3.

Disease | AllUniProt

Conditions ABCD3 is implicated in, by any mechanism.

• Congenital bile acid synthesis defect 5 (CBAS5) MIM:616278

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 234 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital bile acid synthesis defect 5

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.44

gnomAD pLI

0.01

gnomAD missense Z

2.54

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• bile acid and bile salt transport
• bile acid biosynthetic process
• fatty acid beta-oxidation
• fatty acid biosynthetic process
• long-chain fatty acid import into peroxisome
• peroxisome organization
• phytanic acid metabolic process
• response to xenobiotic stimulus
• very long-chain fatty acid catabolic process
• very long-chain fatty acid metabolic process

Molecular functions

• ABC-type transporter activity
• ATP binding
• ATP hydrolysis activity
• ATPase-coupled transmembrane transporter activity
• fatty acyl-CoA hydrolase activity
• long-chain fatty acid transmembrane transporter activity
• protein homodimerization activity

Cellular components

• cytosol
• membrane
• mitochondrion
• peroxisomal matrix
• peroxisomal membrane
• peroxisome

Protein domainsUniProt · Pfam · InterPro

• ABC transporter-like, ATP-binding domain
• AAA+ ATPase domain
• Peroxysomal long chain fatty acyl transporter
• ABC transporter type 1, transmembrane domain
• ABC transporter-like, conserved site
• P-loop containing nucleoside triphosphate hydrolase
• ABC transporter type 1, transmembrane domain superfamily
• ATP-binding cassette sub-family D
• ABC transporter
• ABC transporter transmembrane region 2

KeywordsUniProt

• Acetylation
• ATP-binding
• Glycoprotein
• Hydrolase
• Membrane
• Nucleotide-binding
• Peroxisome
• Phosphoprotein
• Translocase
• Transmembrane
• Transmembrane helix
• Transport
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of ABCD3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PEX19
• ABCD1
• PEX3
• RAB2A