UniProtKB - Q91WZ8 (DTBP1_MOUSE)
Dysbindin
Dtnbp1
Functioni
GO - Biological processi
- actin cytoskeleton reorganization Source: UniProtKB
- anterograde axonal transport Source: UniProtKB
- anterograde synaptic vesicle transport Source: UniProtKB
- blood coagulation Source: MGI
- dendrite morphogenesis Source: MGI
- muscle organ development Source: MGI
- negative regulation of dendritic spine morphogenesis Source: MGI
- negative regulation of neuron death Source: MGI
- negative regulation of protein binding Source: MGI
- negative regulation of protein kinase activity Source: GO_Central
- negative regulation of protein serine/threonine kinase activity Source: MGI
- neuron projection development Source: UniProtKB
- neuron projection morphogenesis Source: UniProtKB
- organelle organization Source: UniProtKB
- platelet dense granule organization Source: MGI
- positive regulation of gene expression Source: UniProtKB
- positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization Source: MGI
- positive regulation of neurotransmitter secretion Source: UniProtKB
- positive regulation of protein phosphorylation Source: MGI
- positive regulation of receptor internalization Source: MGI
- regulation of dopamine receptor signaling pathway Source: UniProtKB
- regulation of dopamine secretion Source: UniProtKB
- regulation of JUN kinase activity Source: CACAO
- regulation of synaptic vesicle exocytosis Source: GO_Central
Keywordsi
Biological process | Sensory transduction |
Enzyme and pathway databases
Reactomei | R-MMU-432722, Golgi Associated Vesicle Biogenesis |
Names & Taxonomyi
Protein namesi | Recommended name: DysbindinAlternative name(s): Biogenesis of lysosome-related organelles complex 1 subunit 8 Short name: BLOC-1 subunit 8 Dysbindin-1 Dystrobrevin-binding protein 1 Hermansky-Pudlak syndrome 7 protein homolog Short name: HPS7 protein homolog |
Gene namesi | Name:Dtnbp1 Synonyms:Bloc1s8, Sdy |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:2137586, Dtnbp1 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum By similarity
Nucleus
Endosome
Other locations
Note: Mainly cytoplasmic but shuttles between the cytoplasm and nucleus. Exported out of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of the expression of genes such as SYN1. Detected in neuron cell bodies, axons and dendrites. Mainly located to the postsynaptic density. Detected at tubulovesicular elements in the vicinity of the Golgi apparatus and of melanosomes. Occasionally detected at the membrane of pigmented melanosomes in cultured melanoma cells (By similarity). The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals.By similarity
Endoplasmic reticulum
- Endoplasmic reticulum By similarity
Plasma membrane
Endosome
- Endosome membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
Other locations
- Cytoplasm
- Cytoplasmic vesicle membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
- synaptic vesicle membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
- Melanosome membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
Note: Exclusivley cytoplasmic. Predominantly found in the postsynaptic density (PSD). Little association with synaptic vesicles (By similarity). The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Vesicle membranes and microtubules. Associated with the AP-3 complex at presynaptic terminals.By similarity
Cytoskeleton
- microtubule cytoskeleton Source: MGI
Cytosol
- BLOC-1 complex Source: UniProtKB
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Endosome
- endosome membrane Source: UniProtKB-SubCell
Nucleus
- nucleus Source: UniProtKB
Plasma Membrane
- plasma membrane Source: MGI
- postsynaptic membrane Source: UniProtKB-SubCell
- sarcolemma Source: UniProtKB
Other locations
- axon Source: UniProtKB
- axon cytoplasm Source: GOC
- cytoplasm Source: UniProtKB
- dendritic spine Source: UniProtKB
- growth cone Source: UniProtKB
- melanosome membrane Source: UniProtKB-SubCell
- midbody Source: MGI
- neuron projection Source: UniProtKB
- neuronal cell body Source: MGI
- postsynaptic density Source: UniProtKB
- sarcoplasm Source: MGI
- synaptic vesicle membrane Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Membrane, Nucleus, Postsynaptic cell membrane, SynapsePathology & Biotechi
Involvement in diseasei
Disruption phenotypei
Keywords - Diseasei
Albinism, Hermansky-Pudlak syndromePTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000191002 | 1 – 352 | DysbindinAdd BLAST | 352 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 11 | PhosphoserineBy similarity | 1 | |
Modified residuei | 315 | PhosphoserineBy similarity | 1 | |
Modified residuei | 340 | PhosphoserineCombined sources | 1 | |
Modified residuei | 343 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q91WZ8 |
PaxDbi | Q91WZ8 |
PeptideAtlasi | Q91WZ8 |
PRIDEi | Q91WZ8 |
PTM databases
iPTMneti | Q91WZ8 |
PhosphoSitePlusi | Q91WZ8 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSMUSG00000057531, Expressed in heart left ventricle and 293 other tissues |
Genevisiblei | Q91WZ8, MM |
Interactioni
Subunit structurei
Interacts with AP3M1 and TRIM32.
Interacts (isoform 1 and isoform 2 only) with the DNA-dependent protein kinase complex DNA-PK; the interaction phosphorylates DTNBP1 in vitro.
Interacts directly in this complex with XRCC5 and XRCC6.
Interacts with XPO1; the interaction exports DTNBP1 out of the nucleus (By similarity).
Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. This BLOC-1 complex also associates with the BLOC-2 complex in endosomes. Binds to DTNA and DTNB but may not be a physiological binding partner (PubMed:16448387 and PubMed:16980328).
Interacts (via its coiled coil domain) with KXD1.
Interacts with AP3B2, BLOC1S5, BLOC1S6, CMYA5, PI4K2, RNF151 and SNAPIN/BLOC1S8.
Interacts with XPO1; the interaction exports DTNBP1 out of the nucleus.
By similarity12 PublicationsBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 220491, 6 interactors |
ComplexPortali | CPX-1913, BLOC-1 complex |
CORUMi | Q91WZ8 |
IntActi | Q91WZ8, 12 interactors |
STRINGi | 10090.ENSMUSP00000072170 |
Miscellaneous databases
RNActi | Q91WZ8, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 173 – 325 | DysbindinAdd BLAST | 153 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 88 – 176 | Sequence analysisAdd BLAST | 89 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 243 – 256 | Nuclear export signalBy similarityAdd BLAST | 14 |
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QRS9, Eukaryota |
GeneTreei | ENSGT00940000156479 |
HOGENOMi | CLU_071074_0_0_1 |
InParanoidi | Q91WZ8 |
OMAi | XHLEASF |
OrthoDBi | 862376at2759 |
PhylomeDBi | Q91WZ8 |
TreeFami | TF332997 |
Family and domain databases
InterProi | View protein in InterPro IPR007531, Dysbindin |
PANTHERi | PTHR16294, PTHR16294, 1 hit |
Pfami | View protein in Pfam PF04440, Dysbindin, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MLETLRERLL SVQQDFTSGL KTLSDKSREA KVKGKPRTAP RLPKYSAGLE
60 70 80 90 100
LLSRYEDAWA ALHRRAKECA DAGELVDSEV VMLSAHWEKK RTSLNELQGQ
110 120 130 140 150
LQQLPALLQD LESLMASLAH LETSFEEVEN HLLHLEDLCG QCELERHKQA
160 170 180 190 200
QAQHLESYKK SKRKELEAFK AELDTEHTQK ALEMEHTQQL KLKERQKFFE
210 220 230 240 250
EAFQQDMEQY LSTGYLQIAE RREPMGSMSS MEVNVDVLEQ MDLMDISDQE
260 270 280 290 300
ALDVFLNSGG EDNIVMSPGV EMESNPNQNE MSLQIPSPSE SASQPPASPS
310 320 330 340 350
ACTDLDTADA PLIQSDEEEV QVDTALVTLH TDRKSTPGVS DDSDQCDSTQ
DI
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK3W4R3 | K3W4R3_MOUSE | Dysbindin | Dtnbp1 | 352 | Annotation score: | ||
A0A1Y7VIX4 | A0A1Y7VIX4_MOUSE | Dysbindin | Dtnbp1 | 342 | Annotation score: | ||
A0A1Y7VP73 | A0A1Y7VP73_MOUSE | Dysbindin | Dtnbp1 | 247 | Annotation score: | ||
A0A1Y7VK42 | A0A1Y7VK42_MOUSE | Dysbindin | Dtnbp1 | 178 | Annotation score: | ||
A0A1Y7VND4 | A0A1Y7VND4_MOUSE | Dysbindin | Dtnbp1 | 54 | Annotation score: | ||
A0A1Y7VJD2 | A0A1Y7VJD2_MOUSE | Dysbindin | Dtnbp1 | 66 | Annotation score: | ||
A0A1Y7VKA2 | A0A1Y7VKA2_MOUSE | Dysbindin | Dtnbp1 | 58 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 251 | A → T in BAE35265 (PubMed:16141072).Curated | 1 | |
Sequence conflicti | 280 | E → G in BAE35265 (PubMed:16141072).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_021939 | 1 – 81 | Missing in isoform 3. 1 PublicationAdd BLAST | 81 | |
Alternative sequenceiVSP_009024 | 171 – 222 | Missing in isoform 2. 1 PublicationAdd BLAST | 52 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ404859 mRNA Translation: CAC37976.1 AY265461 mRNA Translation: AAP91871.1 AK010924 mRNA Translation: BAB27270.2 AK159656 mRNA Translation: BAE35265.1 Different initiation. BC018350 mRNA Translation: AAH18350.1 BC048682 mRNA Translation: AAH48682.1 Frameshift. BC058574 mRNA Translation: AAH58574.1 |
CCDSi | CCDS36647.1 [Q91WZ8-1] |
RefSeqi | NP_080048.2, NM_025772.4 [Q91WZ8-1] |
Genome annotation databases
Ensembli | ENSMUST00000072329; ENSMUSP00000072170; ENSMUSG00000057531 [Q91WZ8-1] ENSMUST00000222583; ENSMUSP00000152812; ENSMUSG00000057531 [Q91WZ8-3] |
GeneIDi | 94245 |
KEGGi | mmu:94245 |
UCSCi | uc007qgw.1, mouse [Q91WZ8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ404859 mRNA Translation: CAC37976.1 AY265461 mRNA Translation: AAP91871.1 AK010924 mRNA Translation: BAB27270.2 AK159656 mRNA Translation: BAE35265.1 Different initiation. BC018350 mRNA Translation: AAH18350.1 BC048682 mRNA Translation: AAH48682.1 Frameshift. BC058574 mRNA Translation: AAH58574.1 |
CCDSi | CCDS36647.1 [Q91WZ8-1] |
RefSeqi | NP_080048.2, NM_025772.4 [Q91WZ8-1] |
3D structure databases
SMRi | Q91WZ8 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 220491, 6 interactors |
ComplexPortali | CPX-1913, BLOC-1 complex |
CORUMi | Q91WZ8 |
IntActi | Q91WZ8, 12 interactors |
STRINGi | 10090.ENSMUSP00000072170 |
PTM databases
iPTMneti | Q91WZ8 |
PhosphoSitePlusi | Q91WZ8 |
Proteomic databases
EPDi | Q91WZ8 |
PaxDbi | Q91WZ8 |
PeptideAtlasi | Q91WZ8 |
PRIDEi | Q91WZ8 |
Protocols and materials databases
Antibodypediai | 25035, 417 antibodies |
Genome annotation databases
Ensembli | ENSMUST00000072329; ENSMUSP00000072170; ENSMUSG00000057531 [Q91WZ8-1] ENSMUST00000222583; ENSMUSP00000152812; ENSMUSG00000057531 [Q91WZ8-3] |
GeneIDi | 94245 |
KEGGi | mmu:94245 |
UCSCi | uc007qgw.1, mouse [Q91WZ8-1] |
Organism-specific databases
CTDi | 84062 |
MGIi | MGI:2137586, Dtnbp1 |
Phylogenomic databases
eggNOGi | ENOG502QRS9, Eukaryota |
GeneTreei | ENSGT00940000156479 |
HOGENOMi | CLU_071074_0_0_1 |
InParanoidi | Q91WZ8 |
OMAi | XHLEASF |
OrthoDBi | 862376at2759 |
PhylomeDBi | Q91WZ8 |
TreeFami | TF332997 |
Enzyme and pathway databases
Reactomei | R-MMU-432722, Golgi Associated Vesicle Biogenesis |
Miscellaneous databases
BioGRID-ORCSi | 94245, 0 hits in 19 CRISPR screens |
ChiTaRSi | Dtnbp1, mouse |
PROi | PR:Q91WZ8 |
RNActi | Q91WZ8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000057531, Expressed in heart left ventricle and 293 other tissues |
Genevisiblei | Q91WZ8, MM |
Family and domain databases
InterProi | View protein in InterPro IPR007531, Dysbindin |
PANTHERi | PTHR16294, PTHR16294, 1 hit |
Pfami | View protein in Pfam PF04440, Dysbindin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DTBP1_MOUSE | |
Accessioni | Q91WZ8Primary (citable) accession number: Q91WZ8 Secondary accession number(s): Q3TWK1 Q9CY43 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 28, 2003 |
Last sequence update: | December 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 148 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families