Dtnbp1 - dystrobrevin binding protein 1 Gene

Mus musculus

Also known as sdy; Bloc1s8; dysbindin; 5430437B18Rik

Gene ID: 94245 | Gene type: protein coding

About Dtnbp1

Summary

Involved in several processes, including anterograde synaptic vesicle transport; plasma membrane bounded cell projection organization; and regulation of secretion by cell. Acts upstream of or within several processes, including dendrite morphogenesis; negative regulation of protein serine/threonine kinase activity; and platelet dense granule organization. Located in several cellular components, including growth cone; hippocampal mossy fiber to CA3 synapse; and sarcolemma. Part of BLOC-1 complex. Is active in several cellular components, including Schaffer collateral - CA1 synapse; glutamatergic synapse; and synaptic vesicle membrane. Is expressed in central nervous system and retina. Used to study Hermansky-Pudlak syndrome 7; platelet storage pool deficiency; and schizophrenia. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 7 and schizophrenia. Orthologous to human DTNBP1 (dystrobrevin binding protein 1). [provided by Alliance of Genome Resources, Apr 2022]

Dtnbp1 Products(1)

mRNA	Protein	Name
NM_025772.4	NP_080048.2	dysbindin

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11316798	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in actin cytoskeleton organization	IDA IDA: Inferred from direct assay	16980328	MGI
involved in anterograde axonal transport	IMP IMP: Inferred from mutant phenotype	21998198	MGI
involved in anterograde synaptic vesicle transport	IMP IMP: Inferred from mutant phenotype	21998198	MGI
acts upstream of or within blood coagulation	IMP IMP: Inferred from mutant phenotype	1936982	MGI
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	28576874	MGI
acts upstream of or within dendrite morphogenesis	IMP IMP: Inferred from mutant phenotype	25297099	MGI
acts upstream of or within kidney development	IMP IMP: Inferred from mutant phenotype	28576874	MGI
acts upstream of or within memory	IMP IMP: Inferred from mutant phenotype	26294018	MGI
acts upstream of or within negative regulation of protein binding	IMP IMP: Inferred from mutant phenotype	25297099	MGI
acts upstream of or within negative regulation of protein serine/threonine kinase activity	IMP IMP: Inferred from mutant phenotype	25297099	MGI
involved in neuron projection morphogenesis	IDA IDA: Inferred from direct assay	16980328	MGI
involved in organelle organization	IDA IDA: Inferred from direct assay	12923531	MGI
acts upstream of or within platelet dense granule organization	IMP IMP: Inferred from mutant phenotype	1936982	MGI
involved in positive regulation of gene expression	IDA IDA: Inferred from direct assay	20921223	MGI
involved in positive regulation of neurotransmitter secretion	IMP IMP: Inferred from mutant phenotype	18504299	MGI
acts upstream of or within protein transmembrane transport	IMP IMP: Inferred from mutant phenotype	28576874	MGI
involved in regulation of JUN kinase activity	IMP IMP: Inferred from mutant phenotype	19094965	MGI
involved in regulation of dopamine secretion	IMP IMP: Inferred from mutant phenotype	19887632	MGI
involved in regulation of synaptic vesicle exocytosis	IDA IDA: Inferred from direct assay	18504299	MGI
involved in regulation of synaptic vesicle exocytosis	IMP IMP: Inferred from mutant phenotype	18504299	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
part of BLOC-1 complex	IDA IDA: Inferred from direct assay	17182842	MGI
is active in Schaffer collateral - CA1 synapse	IDA IDA: Inferred from direct assay	16980328	MGI
is active in Schaffer collateral - CA1 synapse	IMP IMP: Inferred from mutant phenotype	18504299	MGI
is active in asymmetric synapse	IDA IDA: Inferred from direct assay	16980328	MGI
located in axon	IDA IDA: Inferred from direct assay	11316798	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	11316798	MGI
located in dendritic spine	IDA IDA: Inferred from direct assay	16980328	MGI
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16980328	MGI
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	18504299	MGI
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	18504299	MGI
located in growth cone	IDA IDA: Inferred from direct assay	16980328	MGI
is active in hippocampal mossy fiber to CA3 synapse	IDA IDA: Inferred from direct assay	16980328	MGI
located in nucleus	IDA IDA: Inferred from direct assay	11316798	MGI
located in plasma membrane	IDA IDA: Inferred from direct assay	11316798	MGI
is active in postsynaptic density	IDA IDA: Inferred from direct assay	16980328	MGI
located in postsynaptic density	IDA IDA: Inferred from direct assay	16980328	MGI
located in sarcolemma	IDA IDA: Inferred from direct assay	11316798	MGI
located in sarcoplasm	IDA IDA: Inferred from direct assay	14688250	MGI
is active in synaptic vesicle membrane	IDA IDA: Inferred from direct assay	16980328	MGI
located in synaptic vesicle membrane	IDA IDA: Inferred from direct assay	16980328	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

dysbindin

BLOC-1 subunit 8	HPS7 protein homolog
biogenesis of lysosome-related organelles complex 1 subunit 8	dysbindin-1
hermansky-Pudlak syndrome 7 protein homolog	sandy

Dtnbp1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	Dtnbp1	Q91WZ8	Dtna	Mus musculus	Q9D2N4	Anti Bait CoIP	11316798
Intra	Dtnbp1	Q91WZ8	Dtna	Mus musculus	Q9D2N4	Y2H	11316798
Intra	Dtnbp1	Q91WZ8	Dtna	Mus musculus	Q9D2N4	IF	11316798
Intra	Dtnbp1	Q91WZ8	Cmya5	Mus musculus	Q70KF4	Pull Down	14688250
Intra	Dtnbp1	Q91WZ8	Cmya5	Mus musculus	Q70KF4	Y2H	14688250

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04037	DTNBP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Dtnbp1	NCBI	NCBI:84062

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