Gene Gene information from NCBI Gene database.
Entrez ID 91452
Gene name Acyl-CoA binding domain containing 5
Gene symbol ACBD5
Synonyms (NCBI Gene)
RDLKD
Chromosome 10
Chromosome location 10p12.1
Summary 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 plate
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs199700938 A>G Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, intron variant
rs1554837576 T>A Likely-pathogenic Stop gained, coding sequence variant
rs1564574359 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
459
miRTarBase ID miRNA Experiments Reference
MIRT031018 hsa-miR-21-5p Sequencing 20371350
MIRT031018 hsa-miR-21-5p Microarray 18591254
MIRT031914 hsa-miR-16-5p Sequencing 20371350
MIRT705974 hsa-miR-3942-5p HITS-CLIP 23313552
MIRT705975 hsa-miR-4703-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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 TAS
GO:0000425 Process Pexophagy IEA
GO:0000425 Process Pexophagy IMP 24535825
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616618 23338 ENSG00000107897
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T8D3
Protein name Acyl-CoA-binding domain-containing protein 5
Protein function Acyl-CoA binding protein which acts as the peroxisome receptor for pexophagy but is dispensable for aggrephagy and nonselective autophagy. Binds medium- and long-chain acyl-CoA esters.
PDB 3FLV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00887 ACBP 42 126 Acyl CoA binding protein Domain
Sequence
MFQFHAGSWESWCCCCLIPADRPWDRGQHWQLEMADTRSVHETRFEAAVKVIQSLPKNGS
FQPTNEMMLKFYSFYKQATEGPCKLSRPGFWDPIGRYKWDAWSSLGDMTKEEAMIAYVEE
MKKIIE
TMPMTEKVEELLRVIGPFYEIVEDKKSGRSSDITSVRLEKISKCLEDLGNVLTS
TPNAKTVNGKAESSDSGAESEEEEAQEEVKGAEQSDNDKKMMKKSADHKNLEVIVTNGYD
KDGFVQDIQNDIHASSSLNGRSTEEVKPIDENLGQTGKSAVCIHQDINDDHVEDVTGIQH
LTSDSDSEVYCDSMEQFGQEESLDSFTSNNGPFQYYLGGHSSQPMENSGFREDIQVPPGN
GNIGNMQVVAVEGKGEVKHGGEDGRNNSGAPHREKRGGETDEFSNVRRGRGHRMQHLSEG
TKGRQVGSGGDGERWGSDRGSRGSLNEQIALVLMRLQEDMQNVLQRLQKLETLTALQAKS
STSTLQTAPQPTSQRPSWWPFEMSPGVLTFAIIWPFIAQWLVYLYYQRRRRKLN
Sequence length 534
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Peroxisomal lipid metabolism
Class I peroxisomal membrane protein import
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial cancer of breast Likely pathogenic rs778394237 RCV005928383
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder Likely pathogenic; Pathogenic rs1426447692 RCV006272149
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy with leukodystrophy Likely pathogenic; Pathogenic rs2062606991, rs867451420 RCV003143874
RCV000234970
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ACBD5-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ACYL-COA BINDING DOMAIN CONTAINING PROTEIN 5 DEFICIENCY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Leukoencephalopathy Leukoencephalopathy BEFREE 27799409
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 25175022
★☆☆☆☆
Found in Text Mining only
Papillary thyroid carcinoma Papillary thyroid carcinoma BEFREE 25175022
★☆☆☆☆
Found in Text Mining only
Retinal Dystrophies Retinal Dystrophy BEFREE 23105016, 27799409, 27899449
★☆☆☆☆
Found in Text Mining only