ABCD4

Protein identityUniProt · HPA

UniProt accession

O14678

Gene

ABCD4

Ensembl

ENSG00000119688

Chromosome

14

Canonical length

606 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

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. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

606 residues, UniProt reviewed canonical sequence.

>O14678|ABCD4
     1  MAVAGPAPGA GARPRLDLQF LQRFLQILKV LFPSWSSQNA LMFLTLLCLT LLEQFVIYQV
    61  GLIPSQYYGV LGNKDLEGFK TLTFLAVMLI VLNSTLKSFD QFTCNLLYVS WRKDLTEHLH
   121  RLYFRGRAYY TLNVLRDDID NPDQRISQDV ERFCRQLSSM ASKLIISPFT LVYYTYQCFQ
   181  STGWLGPVSI FGYFILGTVV NKTLMGPIVM KLVHQEKLEG DFRFKHMQIR VNAEPAAFYR
   241  AGHVEHMRTD RRLQRLLQTQ RELMSKELWL YIGINTFDYL GSILSYVVIA IPIFSGVYGD
   301  LSPAELSTLV SKNAFVCIYL ISCFTQLIDL STTLSDVAGY THRIGQLRET LLDMSLKSQD
   361  CEILGESEWG LDTPPGWPAA EPADTAFLLE RVSISAPSSD KPLIKDLSLK ISEGQSLLIT
   421  GNTGTGKTSL LRVLGGLWTS TRGSVQMLTD FGPHGVLFLP QKPFFTDGTL REQVIYPLKE
   481  VYPDSGSADD ERILRFLELA GLSNLVARTE GLDQQVDWNW YDVLSPGEMQ RLSFARLFYL
   541  QPKYAVLDEA TSALTEEVES ELYRIGQQLG MTFISVGHRQ SLEKFHSLVL KLCGGGRWEL
   601  MRIKVE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCD4 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

5

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

8.2 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCD4.

Disease | AllUniProt

Conditions ABCD4 is implicated in, by any mechanism.

• Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) MIM:614857

Disease | GeneticClinVar

44 pathogenic / likely-pathogenic of 567 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Methylmalonic acidemia with homocystinuria, type cblJ
• Cobalamin C disease
• Familial cancer of breast

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)

0.9

gnomAD pLI

0

gnomAD missense Z

0.17

DepMap mean gene effect

-0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to leukemia inhibitory factor
• cobalamin metabolic process
• cobalamin transport
• fatty acid beta-oxidation
• long-chain fatty acid import into peroxisome
• peroxisome organization
• transmembrane transport
• very long-chain fatty acid catabolic process

Molecular functions

• ABC-type vitamin B12 transporter activity
• ATP binding
• ATP hydrolysis activity
• ATPase-coupled transmembrane transporter activity
• identical protein binding
• long-chain fatty acid transmembrane transporter activity

Cellular components

• ATP-binding cassette (ABC) transporter complex
• endoplasmic reticulum membrane
• lysosomal membrane
• membrane
• peroxisomal membrane
• peroxisome

Protein domainsUniProt · Pfam · InterPro

• ABC transporter-like, ATP-binding domain
• AAA+ ATPase domain
• 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

• ATP-binding
• Endoplasmic reticulum
• Lysosome
• Membrane
• Nucleotide-binding
• Translocase
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of ABCD4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• LMBRD1
• MMACHC