GO_REF:0000024

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

GO_REF:0000033

Annotation inferences using phylogenetic trees

GO_REF:0000044

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

GO_REF:0000052

Gene Ontology annotation based on curation of immunofluorescence data

GO_REF:0000107

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:15102850

Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

Snapin, BLOS1, BLOS2 and BLOS3 associate with BLOC-1; target-specific dysbindin interaction records retain their binary versus co-complex scope.

PMID:16980328

Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.

Human brain fractionation and separate mouse/macaque ultrastructural studies support synaptic and membrane-associated pools; SNAPIN association is demonstrated in cellular/extract assays.

PMID:17043677

Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia.

The interaction screen includes DTNBP1–SYBU and DTNBP1–PDE4B source records.

PMID:19349376

TRIM32 is an E3 ubiquitin ligase for dysbindin.

TRIM32 acts as an E3 ubiquitin ligase for dysbindin.

PMID:20921223

Nucleocytoplasmic shuttling of dysbindin-1, a schizophrenia-related protein, regulates synapsin I expression.

Dysbindin shuttles between nucleus and cytoplasm and affects synapsin I expression in the studied systems.

PMID:22203680

Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

Reconstituted human BLOC-1 establishes its subunit architecture and co-complex interactions.

PMID:23414517

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.

A human muscle fragment-library screen identifies dysbindin-associated proteins.

PMID:25416956

A proteome-scale map of the human interactome network.

A proteome-scale binary interaction screen supplies target-specific human interaction records.

PMID:32296183

A reference map of the human binary protein interactome.

The human binary interactome map provides selected dysbindin pairwise screen records.

PMID:33961781

Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.

BioPlex detects selected dysbindin associations by affinity purification/mass spectrometry.

PMID:40205054

Multimodal cell maps as a foundation for structural and functional genomics.

The primary AP-MS network contains dysbindin edges to RAD51B, TRIM69, COG5 and COG6.

Reactome:R-HSA-429815

Formation Of Bloc-1 Complex

The BLOC-1 assembly record contains the human Q96EV8 entity R-HSA-429819, residues 1–351, in cytosol.

PMID:1936982

Sandy: a new mouse model for platelet storage pool deficiency.

The sandy mouse has platelet dense-granule and serotonin abnormalities.

PMID:11316798

Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain.

Dysbindin associates with dystrobrevins and is reported at the sarcolemma and in brain axon bundles and selected axon terminals.

PMID:12923531

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).

Human DTNBP1 loss causes HPS-7; mouse genetic and biochemical studies establish dysbindin as a BLOC-1 subunit.

PMID:15345706

Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia.

The abstract reports positive regulation of glutamate release and other neuronal effects of dysbindin.

PMID:16837549

BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes.

Endogenous human MNT-1 dysbindin labels endosomal tubules and a smaller melanosomal limiting-membrane pool; BLOC-1 associates with AP-3 and BLOC-2 in cargo sorting.

PMID:17182842

BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.

BLOC-1 deficiency disrupts selective endosomal cargo sorting toward melanosomes.

PMID:17989303

Evidence that the BLOC-1 protein dysbindin modulates dopamine D2 receptor internalization and signaling but not D1 internalization.

Dysbindin depletion alters dopamine D2 receptor surface abundance, internalization and agonist-dependent signaling.

PMID:18504299

DTNBP1, a schizophrenia susceptibility gene, affects kinetics of transmitter release.

Mouse dysbindin loss changes release parameters; acute purified-protein delivery restores fusion-event kinetics and quantal size without immediately restoring release probability or total release.

PMID:19142223

Dysbindin-1, a schizophrenia-related protein, functionally interacts with the DNA- dependent protein kinase complex in an isoform-dependent manner.

Endogenous human dysbindin occurs in both nuclear and cytoplasmic pools; introduced products differ in Ku association and distribution.

PMID:19428785

Direct interaction of Dysbindin with the AP-3 complex via its mu subunit.

The abstract reports presynaptic and growth-cone localization in the context of AP-3 association.

PMID:19546860

The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth.

BLOC-1 forms a soluble complex and displays selective associations with SNARE proteins in extract/purified-complex studies.

PMID:19887632

Role of dysbindin in dopamine receptor trafficking and cortical GABA function.

Dysbindin deficiency alters dopamine D2 receptor trafficking and neuronal responses in mice.

PMID:20531346

Dysbindin-1, WAVE2 and Abi-1 form a complex that regulates dendritic spine formation.

Dysbindin supports WAVE2/Abi1-associated regulation of neuronal morphology, with assay-dependent effects on actin polymerization.

PMID:21390302

Synaptic dysbindin-1 reductions in schizophrenia occur in an isoform-specific manner indicating their subsynaptic location.

Human brain studies report different distributions of historical dysbindin A/B/C products among subcellular fractions.

PMID:21998198

The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse.

BLOC-1 supports selective axonal delivery of membrane cargo and associates with AP-3/PI4KII-containing trafficking machinery.

PMID:22423091

Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1.

A current mouse donor record cites this publication for BLOC-1 membership.

PMID:23954924

Developmental expression of dysbindin in Muller cells of rat retina.

Dysbindin expression varies with retinal development and Müller-cell context.

PMID:26725201

BLOC-1 Brings Together the Actin and Microtubule Cytoskeletons to Generate Recycling Endosomes.

BLOC-1 coordinates endosomal carrier extension with KIF13A and actin-associated machinery.

PMID:28137951

Correction for BLOC-1 Is Required for Cargo-specific Sorting from Vacuolar Early Endosomes toward Lysosome-related Organelles.

Validated transferrin recycling experiments replace an invalid control and reveal a slight early defect, while the major cargo-sorting conclusions persist.

PMID:36169638

PI4P and BLOC-1 remodel endosomal membranes into tubules.

Purified human BLOC-1 containing dysbindin 1–259 bends negatively charged membranes into tubules.

PMID:37070456

Correction to: Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.

Corrected figure presentation addresses issues in the earlier synaptic/microtubule study; the editors state that the results remain supported.

PMID:38507352

Expression of Concern: Synaptic Dysbindin-1 Reductions in Schizophrenia Occur in an Isoform-Specific Manner Indicating Their Subsynaptic Location.

An Expression of Concern leaves Figure 5A marker-blot similarities unresolved while distinguishing issues considered resolved or not critical.

file:human/DTNBP1/DTNBP1-uniprot.txt

UniProt record for DTNBP1 (Q96EV8)

Official identity, three alternative products and curated location statements retain their source-specific evidence codes.

https://www.proteinatlas.org/ENSG00000047579-DTNBP1/subcellular

Subcellular - DTNBP1 - The Human Protein Atlas

The target summary assigns Enhanced reliability to microtubules and Approved reliability to midbody; these are distinct location-specific scores.

file:human/DTNBP1/DTNBP1-bioinformatics/interactions/RESULTS.md

DTNBP1 interaction reference-identity audit

Saved MITAB records and independent reference sequences verify the literal target and partner pairs, publication identifiers and assay stages. Matching database-reference ROGIDs do not authenticate experimental insert sequences or prove physiological co-localization.