DTNBP1
Dystrobrevin Binding Protein 1
Gene Information Card
| Symbol | DTNBP1 |
|---|---|
| Full Name | dystrobrevin binding protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.3 |
| NCBI Gene ID | 84062 ncbi.nlm.nih.gov/gene/84062 |
| Ensembl ID | ENSG00000047579 |
| UniProt ID | Q96EV8 |
| OMIM ID | 607145 |
| HGNC ID | 17328 |
| Aliases | DBND, dysbindin, HPS7, SDY, My031 |
Description
DTNBP1 encodes dystrobrevin binding protein 1, also known as dysbindin. It is a component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) and is involved in intracellular trafficking, neurotransmitter release, and synaptic function. Mutations in DTNBP1 are associated with Hermansky-Pudlak syndrome type 7 (HPS7) and have been implicated in schizophrenia susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 7 (HPS7) | Loss-of-function mutations in DTNBP1 disrupt BLOC-1 complex assembly, impairing lysosome-related organelle biogenesis, leading to albinism, bleeding diathesis, and pulmonary fibrosis. | OMIM #614076; ClinVar |
| Schizophrenia | Genetic variants (e.g., SNPs in promoter region) may alter DTNBP1 expression, affecting synaptic glutamate/dopamine signaling and neurodevelopment. | NCBI Gene; multiple GWAS studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 10.8 | Common expression system |
| HepG2 (liver) | 7.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.307C>T (p.Arg103*) | Nonsense | <0.01% | Loss of function; causes HPS7 |
| c.1192C>T (p.Arg398Cys) | Missense | 0.02% | Impaired BLOC-1 binding; HPS7 |
| rs1011313 (promoter) | SNP | 30-40% | Associated with schizophrenia risk |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg103*) lead to truncated protein and loss of BLOC-1 function, causing HPS7.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
Not reported; HPS7 is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • dystrobrevin binding |
| • intracellular protein transport | • synaptic vesicle priming |
| • biogenesis of lysosome-related organelles | • dopamine receptor signaling pathway |
Pathways
• BLOC-1 complex pathway
• Lysosome-related organelle biogenesis
• Synaptic vesicle cycle
Protein Summary
Dysbindin (DTNBP1) is a 351-amino acid protein that forms part of the BLOC-1 complex. It localizes to endosomes and synaptic vesicles, regulating protein trafficking to lysosome-related organelles and neurotransmitter release. Dysbindin interacts with dystrobrevin and snapin, influencing synaptic plasticity. Loss of function leads to Hermansky-Pudlak syndrome, while altered expression is linked to schizophrenia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DTNBP1 Knockout HEK293 Cell Line | EDJ-KQ3708 | Human | 84062 | Details Get a Quote |
| DTNBP1 Knockout A-549 Cell Line | EDJ-KQ25734 | Human | 84062 | Details Get a Quote |
| DTNBP1 Knockout HCT 116 Cell Line | EDJ-KQ25735 | Human | 84062 | Details Get a Quote |
| DTNBP1 Knockout HeLa Cell Line | EDJ-KQ25736 | Human | 84062 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
