ACBD6 (acyl-CoA binding domain containing 6)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84320
Gene name Acyl-CoA binding domain containing 6
Gene symbol ACBD6
Synonyms (NCBI Gene)
NEDPM
Chromosome 1
Chromosome location 1q25.2-q25.3
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
miRTarBase ID miRNA Experiments Reference
MIRT041521 hsa-miR-193b-3p CLASH 23622248
MIRT762174 hsa-miR-3146 CLIP-seq
MIRT762175 hsa-miR-3148 CLIP-seq
MIRT762176 hsa-miR-323b-3p CLIP-seq
MIRT762177 hsa-miR-3674 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0000062 Function Fatty-acyl-CoA binding IBA
GO:0000062 Function Fatty-acyl-CoA binding IEA
GO:0000062 Function Fatty-acyl-CoA binding IMP 37951597
GO:0005515 Function Protein binding IPI 26621918, 32296183, 33961781
GO:0005634 Component Nucleus IDA 37951597
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616352 23339 ENSG00000230124
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BR61
Protein name Acyl-CoA-binding domain-containing protein 6
Protein function Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids. Plays a role in protein N-myristo
PDB 2COP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00887 ACBP 43 → 123 Acyl CoA binding protein Domain
PF12796 Ank_2 162 → 255 Ankyrin repeats (3 copies) Repeat
Tissue specificity TISSUE SPECIFICITY: Detected in placenta and spleen (at protein level). Detected in placenta, umbilical cord blood, CD34-positive hematopoietic progenitor cells and bone marrow. {ECO:0000269|PubMed:18268358}.
Sequence
Sequence length 282
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Mitochondrial Fatty Acid Beta-Oxidation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Pathogenic rs1412804743 RCV001810074
Neurodevelopmental disorder with progressive movement abnormalities Pathogenic rs1412804743, rs757566117, rs1647942239, rs2525656325, rs2528780273 RCV004577550
RCV004577649
RCV004577650
RCV004577651
RCV004577652
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACBD6-related disorder Likely benign rs778457212, rs1557898101, rs151129855, rs200911700, rs189730262 RCV003981700
RCV003912117
RCV003911538
RCV003952314
RCV003976960
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Motor Disorders Associate 38181310
Non alcoholic Fatty Liver Disease Associate 22215535
Stroke Associate 38181310