ACBD7: Acyl-CoA Binding Domain Containing 7
Gene encoding a member of the acyl-CoA binding protein family involved in lipid metabolism and intracellular acyl-CoA transport.
Gene Information Card
| Symbol | ACBD7 |
|---|---|
| Full Name | Acyl-CoA Binding Domain Containing 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.33 |
| NCBI Gene ID | 414149 ncbi.nlm.nih.gov/gene/414149 |
| Ensembl ID | ENSG00000198719 |
| UniProt ID | Q8N6N7 |
| OMIM ID | Not available |
| HGNC ID | 28337 |
| Aliases | ACBP7, MGC131831 |
Description
ACBD7 (Acyl-CoA Binding Domain Containing 7) is a protein-coding gene belonging to the acyl-CoA binding protein (ACBP) family. The encoded protein contains an acyl-CoA binding domain that binds medium- and long-chain acyl-CoA esters, playing a role in intracellular lipid transport and metabolism. ACBD7 is expressed in various tissues and may be involved in cellular processes such as fatty acid synthesis, β-oxidation, and gene regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect lipid metabolism and signaling pathways, potentially influencing tumor progression. | COSMIC database lists ACBD7 mutations in a small percentage of cancer samples, but no direct causal evidence is established. |
| Metabolic disorders | Given its role in acyl-CoA binding, dysregulation could impact fatty acid metabolism, but no specific disease association is confirmed. | Inferred from functional homology; no clinical evidence in OMIM or ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Testis | 6.5 | Low |
| Brain | 4.2 | Low |
| Heart | 3.1 | Low |
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Testis | 8.1 | Low |
| Brain | 4.3 | Low |
| Heart | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma |
| HEK293 | 9.8 | Embryonic kidney |
| A549 | 7.4 | Lung carcinoma |
| MCF7 | 5.1 | Breast adenocarcinoma |
| HepG2 (liver cancer) | 15.0 | High expression compared to other cell lines |
| A549 (lung cancer) | 5.2 | Moderate expression |
| MCF7 (breast cancer) | 2.1 | Low expression |
| K562 (leukemia) | 1.0 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Gly41=) | Synonymous | 0.001% (gnomAD) | No known effect on protein function |
| c.456A>G (p.Ile152Met) | Missense | 0.0005% (gnomAD) | Potential impact on protein stability, but not clinically validated |
| c.789delC (p.Leu264Trpfs*13) | Frameshift | Not reported in population databases | Predicted to cause loss of function, but no disease association |
Mutation functional classification
Loss of Function (LOF)
Gain of Function (GOF)
Dominant Negative (DN)
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the protein are predicted to result in loss of function, but no clinical phenotype has been linked.
Gain of Function (GOF)
No evidence for gain-of-function mutations in ACBD7.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000062 - acyl-CoA binding | • GO:0005737 - cytoplasm |
| • GO:0006629 - lipid metabolic process | • GO:0016020 - membrane |
Pathways
• Reactome: Metabolism of lipids
• Reactome: Fatty acid metabolism
Protein Summary
The ACBD7 protein (UniProt Q8N6N7) is a 10.6 kDa acyl-CoA binding protein consisting of 92 amino acids. It contains a conserved acyl-CoA binding domain that binds acyl-CoA esters with high affinity, facilitating their intracellular transport and protecting them from hydrolysis. The protein is localized in the cytoplasm and may associate with membranes. Its expression is highest in liver and kidney, consistent with roles in lipid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACBD7 Knockout HEK293 Cell Line | EDJ-KQ12256 | Human | 414149 | Details Get a Quote |
| ACBD7 Knockout A-549 Cell Line | EDJ-KQ41048 | Human | 414149 | Details Get a Quote |
| ACBD7 Knockout HCT 116 Cell Line | EDJ-KQ41049 | Human | 414149 | Details Get a Quote |
| ACBD7 Knockout HeLa Cell Line | EDJ-KQ60357 | Human | 414149 | Details Get a Quote |
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