ACBD3: Acyl-CoA Binding Domain Containing 3
Key regulator of Golgi structure, lipid metabolism, and viral replication
Gene Information Card
| Symbol | ACBD3 |
|---|---|
| Full Name | Acyl-CoA Binding Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.12 |
| NCBI Gene ID | 64746 ncbi.nlm.nih.gov/gene/64746 |
| Ensembl ID | ENSG00000182872 |
| UniProt ID | Q9H3P7 |
| OMIM ID | 606809 |
| HGNC ID | 15457 |
| Aliases | GCP60, PAP7, GOCAP1, GOLPH1 |
Description
ACBD3 encodes a protein containing an acyl-CoA binding domain and a Golgi dynamics domain. It is involved in maintaining Golgi structure, lipid metabolism, and acts as a scaffold for protein complexes. ACBD3 also plays a role in viral replication, particularly for enteroviruses and hepatitis C virus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | ACBD3 overexpression may promote tumor growth via altered lipid signaling and Golgi dysfunction. | PMID: 25636841 |
| Neurological disorders | Mutations in ACBD3 have been linked to intellectual disability and microcephaly, possibly due to disrupted Golgi trafficking. | PMID: 28554332 |
| Viral infections | ACBD3 is hijacked by enteroviruses (e.g., poliovirus) to form replication complexes; also interacts with HCV NS5A. | PMID: 22482731 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 10.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 14.2 | Medium expression |
| HepG2 | 11.9 | Medium expression |
| SH-SY5Y | 9.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | Rare | Alters Golgi localization; associated with intellectual disability |
| c.1456G>A (p.Glu486Lys) | Missense | Rare | May affect protein stability; reported in cancer |
| c.1789_1791del (p.Phe597del) | In-frame deletion | Rare | Disrupts Golgi dynamics domain; linked to microcephaly |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., truncations) impair Golgi integrity and lipid binding, leading to cellular stress.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression in cancer may confer a growth advantage.
Dominant Negative (DN)
Dominant-negative effects have been proposed for missense mutations that disrupt protein-protein interactions without complete loss of function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000062 - acyl-CoA binding | • GO:0005794 - Golgi apparatus |
| • GO:0016020 - membrane | • GO:0008289 - lipid binding |
| • GO:0047485 - protein N-terminus binding |
Pathways
• Golgi vesicle transport
• Lipid metabolism
• Enterovirus replication
Protein Summary
The ACBD3 protein (also known as GCP60, PAP7) is a 528-amino acid protein that localizes to the Golgi apparatus. It contains an N-terminal acyl-CoA binding domain and a C-terminal Golgi dynamics domain. ACBD3 interacts with giantin, Rab1, and other Golgi proteins to maintain organelle structure. It also binds to the HCV NS5A protein and enterovirus 3A protein, facilitating viral replication. The protein is ubiquitously expressed with highest levels in brain and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACBD3 Knockout HEK293 Cell Line | EDJ-KQ11482 | Human | 64746 | Details Get a Quote |
| ACBD3 Knockout A-549 Cell Line | EDJ-KQ41041 | Human | 64746 | Details Get a Quote |
| ACBD3 Knockout HCT 116 Cell Line | EDJ-KQ41043 | Human | 64746 | Details Get a Quote |
| ACBD3 Knockout HeLa Cell Line | EDJ-KQ41044 | Human | 64746 | Details Get a Quote |
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