DBI Gene: Diazepam Binding Inhibitor
Acyl-CoA Binding Protein (ACBP) – Gene, Function, and Clinical Significance
Gene Information Card
| Symbol | DBI |
|---|---|
| Full Name | Diazepam Binding Inhibitor |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.3 |
| NCBI Gene ID | 1622 ncbi.nlm.nih.gov/gene/1622 |
| Ensembl ID | ENSG00000155380 |
| UniProt ID | P07108 |
| OMIM ID | 125950 |
| HGNC ID | 2690 |
| Aliases | ACBP, ACBD1, EP, CCK-RP, DBI-1, DBI-2 |
Description
The DBI gene encodes diazepam binding inhibitor (DBI), also known as acyl-CoA binding protein (ACBP). DBI is a 10 kDa protein that binds medium- and long-chain acyl-CoA esters and modulates GABA-A receptor activity by interacting with the benzodiazepine binding site. It is involved in lipid metabolism, neurosteroidogenesis, and regulation of anxiety and feeding behavior. DBI is expressed in multiple tissues, with highest levels in liver, kidney, and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | DBI overexpression promotes lipid accumulation and tumor growth via acyl-CoA binding | PMID: 31028171 |
| Anxiety disorders | DBI modulates GABA-A receptor function; altered levels linked to anxiety in animal models | PMID: 1847993 |
| Alzheimer's disease | DBI levels increased in cerebrospinal fluid; may contribute to neuroinflammation | PMID: 31577909 |
| Obesity and metabolic syndrome | DBI/ACBP regulates lipid metabolism and energy homeostasis; polymorphisms associated with BMI | PMID: 25646336 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 123.4 | High |
| Kidney | 89.2 | High |
| Brain | 45.6 | Medium |
| Adipose tissue | 32.1 | Medium |
| Heart | 18.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 156.3 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 67.8 | Neuroblastoma cell line |
| HEK293 | 42.5 | Embryonic kidney cells |
| MCF7 | 29.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; predicted loss of function |
| c.214C>T (p.Arg72Cys) | Missense | 0.02% | Reduced acyl-CoA binding affinity |
| c.328G>A (p.Gly110Ser) | Missense | 0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1?) – loss of start codon, likely null allele.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACTOME: Metabolism of lipids (R-HSA-556833)
• REACTOME: Acyl-CoA binding (R-HSA-75105)
• KEGG: Neuroactive ligand-receptor interaction (hsa04080)
Protein Summary
DBI (diazepam binding inhibitor) is a 10 kDa protein (UniProt P07108) that binds acyl-CoA esters with high affinity, facilitating intracellular lipid transport and metabolism. It also acts as an endogenous ligand for the benzodiazepine binding site of GABA-A receptors, modulating chloride ion flux and neuronal excitability. DBI is processed into smaller bioactive peptides (e.g., octadecaneuropeptide, ODN) that have anxiogenic and orexigenic effects. The protein is ubiquitously expressed, with highest levels in liver, kidney, and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DBI Knockout HEK293 Cell Line | EDJ-KQ2682 | Human | 1622 | Details Get a Quote |
| DBI Knockout A-549 Cell Line | EDJ-KQ23489 | Human | 1622 | Details Get a Quote |
| DBI Knockout HCT 116 Cell Line | EDJ-KQ23490 | Human | 1622 | Details Get a Quote |
| DBI Knockout HeLa Cell Line | EDJ-KQ23491 | Human | 1622 | Details Get a Quote |
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