Dtnbp1 dystrobrevin binding protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dtnbp1provided by MGI
Official Full Name: dystrobrevin binding protein 1provided by MGI
Primary source: MGI:MGI:2137586
See related: Ensembl:ENSMUSG00000057531 AllianceGenome:MGI:2137586
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: sdy; Bloc1s8; dysbindin; 5430437B18Rik
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]
Expression: Ubiquitous expression in kidney adult (RPKM 38.5), heart adult (RPKM 31.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A5; 13 21.73 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (45075552..45155614, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (44922079..45002096, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exposure to Circadian Disruption During Adolescence Interacts With a Genetic Risk Factor to Modify Schizophrenia-relevant Behaviors in a Sex-dependent Manner.
Title: Exposure to Circadian Disruption During Adolescence Interacts With a Genetic Risk Factor to Modify Schizophrenia-relevant Behaviors in a Sex-dependent Manner.
Dysbindin-1A modulation of astrocytic dopamine and basal ganglia dependent behaviors relevant to schizophrenia.
Title: Dysbindin-1A modulation of astrocytic dopamine and basal ganglia dependent behaviors relevant to schizophrenia.
Dysbindin-1 regulates mitochondrial fission and gamma oscillations.
Title: Dysbindin-1 regulates mitochondrial fission and gamma oscillations.
Interactions between knockout of schizophrenia risk factor Dysbindin-1 and copper metabolism in mice.
Title: Interactions between knockout of schizophrenia risk factor Dysbindin-1 and copper metabolism in mice.
Mice with dopaminergic neuron-specific deletion of DTNBP-1 gene show blunted nucleus accumbens dopamine release and associated behaviors.
Title: Mice with dopaminergic neuron-specific deletion of DTNBP-1 gene show blunted nucleus accumbens dopamine release and associated behaviors.
Schizophrenia-associated dysbindin modulates axonal mitochondrial movement in cooperation with p150(glued).
Title: Schizophrenia-associated dysbindin modulates axonal mitochondrial movement in cooperation with p150(glued).
Dysbindin deficiency Alters Cardiac BLOC-1 Complex and Myozap Levels in Mice.
Title: Dysbindin deficiency Alters Cardiac BLOC-1 Complex and Myozap Levels in Mice.
The epistatic interaction between the dopamine D3 receptor and dysbindin-1 modulates higher-order cognitive functions in mice and humans.
Title: The epistatic interaction between the dopamine D3 receptor and dysbindin-1 modulates higher-order cognitive functions in mice and humans.
Ethologically based behavioural and neurochemical characterisation of mice with isoform-specific loss of dysbindin-1A in the context of schizophrenia.
Title: Ethologically based behavioural and neurochemical characterisation of mice with isoform-specific loss of dysbindin-1A in the context of schizophrenia.
Investigation of the roles of dysbindin-1 and SATB2 in the progression of Parkinson's disease.
Title: Investigation of the roles of dysbindin-1 and SATB2 in the progression of Parkinson's disease.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Targeted (5) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126449 (e-PCR)
- UniSTS:163157

AW048963 (e-PCR)
- UniSTS:164523

NoName (e-PCR)
- UniSTS:237005

35.MMHAP20FLD5.seq (e-PCR)
- UniSTS:124132

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in anterograde axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anterograde synaptic vesicle transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in anterograde synaptic vesicle transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood coagulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dendrite morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome organization	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of dendritic spine morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	NAS Non-traceable Author Statement more info	PubMed
involved_in neuron projection morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in organelle organization	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet dense granule organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within platelet dense granule organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neurotransmitter secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor internalization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of JUN kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of dopamine receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of dopamine secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic vesicle exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of synaptic vesicle exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BLOC-1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of BLOC-1 complex	ISO Inferred from Sequence Orthology more info
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in asymmetric synapse	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in dendritic spine	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
is_active_in hippocampal mossy fiber to CA3 synapse	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in midbody	ISO Inferred from Sequence Orthology more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic density	ISO Inferred from Sequence Orthology more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dysbindin

Names: 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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_025772.4 → NP_080048.2 dysbindin

See identical proteins and their annotated locations for NP_080048.2

Status: VALIDATED

Source sequence(s)

AC159210, AC166074

Consensus CDS

CCDS36647.1

UniProtKB/Swiss-Prot

Q3TWK1, Q6WXQ1, Q80ZN4, Q91WZ8, Q9CY43

UniProtKB/TrEMBL

K3W4R3

Related

ENSMUSP00000072170.8, ENSMUST00000072329.15

Conserved Domains (1) summary

pfam04440
Location:175 → 316

Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

45075552..45155614 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516984.5 → XP_006517047.1 dysbindin isoform X1

Conserved Domains (1) summary

pfam04440
Location:19 → 159

Dysbindin; Dysbindin (Dystrobrevin binding protein 1)