ACBD6

Protein identityUniProt · HPA

UniProt accession

Q9BR61

Gene

ACBD6

Ensembl

ENSG00000230124

Chromosome

1

Canonical length

282 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

Enables fatty-acyl-CoA binding activity. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

282 residues, UniProt reviewed canonical sequence.

>Q9BR61|ACBD6
     1  MASSFLPAGA ITGDSGGELS SGDDSGEVEF PHSPEIEETS CLAELFEKAA AHLQGLIQVA
    61  SREQLLYLYA RYKQVKVGNC NTPKPSFFDF EGKQKWEAWK ALGDSSPSQA MQEYIAVVKK
   121  LDPGWNPQIP EKKGKEANTG FGGPVISSLY HEETIREEDK NIFDYCRENN IDHITKAIKS
   181  KNVDVNVKDE EGRALLHWAC DRGHKELVTV LLQHRADINC QDNEGQTALH YASACEFLDI
   241  VELLLQSGAD PTLRDQDGCL PEEVTGCKTV SLVLQRHTTG KA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACBD6 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

42 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACBD6.

Disease | AllUniProt

Conditions ACBD6 is implicated in, by any mechanism.

• Neurodevelopmental disorder with progressive movement abnormalities (NEDPM) MIM:620785

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 80 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with progressive movement abnormalities
• Intellectual disability
• Inborn genetic diseases

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)

1.13

gnomAD pLI

0

gnomAD missense Z

0.11

DepMap mean gene effect

0.08

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

• fatty-acyl-CoA binding
• lipid binding

Cellular components

• cytoplasm
• cytosol
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Acyl-CoA-binding protein, ACBP
• Ankyrin repeat
• FERM/acyl-CoA-binding protein superfamily
• Acyl-CoA binding protein superfamily
• Ankyrin repeat-containing domain superfamily
• Acyl CoA binding protein
• Ankyrin repeats (3 copies)

KeywordsUniProt

• ANK repeat
• Autism spectrum disorder
• Cytoplasm
• Dystonia
• Intellectual disability
• Lipid-binding
• Nucleus
• Parkinsonism
• Phosphoprotein
• Repeat

InteractionsUniProt · HPA

Protein binding partners of ACBD6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NMT1
• NMT2