ACBD5

Protein identityUniProt · HPA

UniProt accession

Q5T8D3

Gene

ACBD5

Ensembl

ENSG00000107897

Chromosome

10

Canonical length

534 aa

Protein class

Disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Peroxisomes

OverviewNCBI Gene

This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

534 residues, UniProt reviewed canonical sequence.

>Q5T8D3|ACBD5
     1  MFQFHAGSWE SWCCCCLIPA DRPWDRGQHW QLEMADTRSV HETRFEAAVK VIQSLPKNGS
    61  FQPTNEMMLK FYSFYKQATE GPCKLSRPGF WDPIGRYKWD AWSSLGDMTK EEAMIAYVEE
   121  MKKIIETMPM TEKVEELLRV IGPFYEIVED KKSGRSSDIT SVRLEKISKC LEDLGNVLTS
   181  TPNAKTVNGK AESSDSGAES EEEEAQEEVK GAEQSDNDKK MMKKSADHKN LEVIVTNGYD
   241  KDGFVQDIQN DIHASSSLNG RSTEEVKPID ENLGQTGKSA VCIHQDINDD HVEDVTGIQH
   301  LTSDSDSEVY CDSMEQFGQE ESLDSFTSNN GPFQYYLGGH SSQPMENSGF REDIQVPPGN
   361  GNIGNMQVVA VEGKGEVKHG GEDGRNNSGA PHREKRGGET DEFSNVRRGR GHRMQHLSEG
   421  TKGRQVGSGG DGERWGSDRG SRGSLNEQIA LVLMRLQEDM QNVLQRLQKL ETLTALQAKS
   481  STSTLQTAPQ PTSQRPSWWP FEMSPGVLTF AIIWPFIAQW LVYLYYQRRR RKLN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACBD5 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

1

Mean surface accessibility (rSASA)

0.59

Highest tissue expression

69 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACBD5.

Disease | AllUniProt

Conditions ACBD5 is implicated in, by any mechanism.

• Retinal dystrophy with leukodystrophy (RDLKD) MIM:618863

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 446 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Retinal dystrophy with leukodystrophy
• Retinal disorder
• 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)

0.53

gnomAD pLI

0.01

gnomAD missense Z

0.87

DepMap mean gene effect

0.06

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

• fatty acid catabolic process
• fatty acid metabolic process
• pexophagy

Molecular functions

• fatty-acyl-CoA binding

Cellular components

• cytoplasm
• cytosol
• membrane
• nucleoplasm
• peroxisomal membrane
• peroxisome

Protein domainsUniProt · Pfam · InterPro

• Acyl-CoA-binding protein, ACBP
• FERM/acyl-CoA-binding protein superfamily
• Acyl-CoA-binding protein, ACBP, conserved site
• Acyl-CoA binding protein superfamily
• Acyl CoA binding protein
• Acyl-CoA-binding domain-containing protein 5

KeywordsUniProt

• Acetylation
• Autophagy
• Coiled coil
• Leukodystrophy
• Lipid-binding
• Membrane
• Peroxisome
• Phosphoprotein
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of ACBD5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• VAPA
• VAPB