DTNBP1

Chr 6p22.3

dystrobrevin binding protein 1

Aliases:: Dysbindin, My031, HPS7, DBND, BLOC1S8
MANE:: ENST00000344537.10

OMIM: 607145 ↗NCBI: 84062 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DTNBP1 · Q96EV8

v62025-08-01

Predicted Aligned Error matrix for DTNBP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.9/ 100

Confident

351 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)14%
Low(50–70)20%
Very low(< 50)23%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal
Familial pulmonary fibrosis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Hermansky-Pudlak syndrome 7
0.67
Hermansky-Pudlak syndrome
0.63
Hermansky-Pudlak syndrome type 7
0.52
schizophrenia
0.32
squamous cell carcinoma
0.32
pericarditis
0.29
tympanic membrane disorder
0.29
tympanic membrane perforation
0.29
hidradenitis
0.29
muscular disease
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dysbindin

Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2 pathway