Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q91WZ8 (DTBP1_MOUSE)

Protein

Dysbindin

Gene

Dtnbp1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.16 Publications

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processSensory transduction

Enzyme and pathway databases

ReactomeiR-MMU-432722 Golgi Associated Vesicle Biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Dysbindin
Alternative 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
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus
Proteomesi
  • UP000000589 Componenti: Chromosome 13

Organism-specific databases

MGIiMGI:2137586 Dtnbp1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Membrane, Nucleus, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Defects in Dtnbp1 are the cause of the sandy (sdy) mutant phenotype, a model for human Hermansky-Pudlak syndrome (HPS). Sdy mice lack dysbindin expression; they have a characteristic sandy coat color and have much fewer melanosomes in the retinal pigment epithelium and choroid. They are fully viable, but present behavioral abnormalities. They have prolonged bleeding times due to platelet storage pool deficiency, and lysosomal storage defects. The number of electron-opaque platelet dense granules is severely reduced, and the platelet serotonin content is strongly reduced. Secretion of lysosomal enzymes from kidney and from thrombin-stimulated platelets is depressed 2- and 3-fold, and ceroid pigment is present in kidney. Sandy mice also display impaired long-term memory retention and working memory and schizophrenia-like behavioral abnormalities. Vesicle morphology and kinetics of transmitter release are affected in both neuroendocrine cells and hippocampal synapses, characterized by larger vesicle size, slower quantal release, fewer release events and reduced readily releasable pool (RRP). Expression levels of SYN1 are lower in both the cortex and the hippocampal formation (HF).8 Publications

Disruption phenotypei

Null mice exhibit cognitive abnormalities including schizophrenia-related behaviors such as impaired working memory under stressful conditions. There is higher acoustic startle reactivity to stimuli. Pyramidal neurons are hypoexcitable on dopamine-2 receptor stimulation. There is reduced expression of Ca2+/calmodulin-dependent protein kinase II (CaMKII) and CaMKKbeta in the medial prefrontal cortex mPFC. There is increased expression levels of cell surface dopamine receptor D2 in cortical neurons. Expression levels of SYN1 are lower in both cortex and in the hippocampal formation (HF).3 Publications

Keywords - Diseasei

Albinism, Hermansky-Pudlak syndrome

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001910021 – 352DysbindinAdd BLAST352

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei11PhosphoserineBy similarity1
Modified residuei315PhosphoserineBy similarity1
Modified residuei340PhosphoserineCombined sources1
Modified residuei343PhosphoserineCombined sources1

Post-translational modificationi

Ubiquitinated by TRIM32. Ubiquitination leads to DTNBP1 degradation.By similarity

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ91WZ8
PaxDbiQ91WZ8
PeptideAtlasiQ91WZ8
PRIDEiQ91WZ8

PTM databases

iPTMnetiQ91WZ8
PhosphoSitePlusiQ91WZ8

Expressioni

Tissue specificityi

Detected in brain, in hippocampus and dentate gyrus neurons. Detected at axon bundles and axon terminals, notably in the cerebellum and hippocampus. Detected in neuropil in hippocampus, lateral septum, basal ganglia and substantia nigra. Highly expressed in pyramidal cells of hippocampus CA2 and CA3. Detected at the heart and skeletal muscle sarcolemma (at protein level). Ubiquitously expressed. The highest expression is observed in testis, liver, kidney, brain, heart and lung. Expressed at lower levels in stomach and small intestine.6 Publications

Gene expression databases

BgeeiENSMUSG00000057531 Expressed in 274 organ(s), highest expression level in heart left ventricle
CleanExiMM_DTNBP1
ExpressionAtlasiQ91WZ8 baseline and differential
GenevisibleiQ91WZ8 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 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi220491, 3 interactors
ComplexPortaliCPX-1913 BLOC-1 complex
CORUMiQ91WZ8
IntActiQ91WZ8, 12 interactors
STRINGi10090.ENSMUSP00000072170

Structurei

3D structure databases

SMRiQ91WZ8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni173 – 325DysbindinAdd BLAST153

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili88 – 176Sequence analysisAdd BLAST89

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi243 – 256Nuclear export signalBy similarityAdd BLAST14

Sequence similaritiesi

Belongs to the dysbindin family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IF9S Eukaryota
ENOG4111YM1 LUCA
GeneTreeiENSGT00390000010667
HOGENOMiHOG000272621
HOVERGENiHBG051416
InParanoidiQ91WZ8
KOiK20189
OMAiNYNAGAD
PhylomeDBiQ91WZ8
TreeFamiTF332997

Family and domain databases

InterProiView protein in InterPro
IPR007531 Dysbindin
PANTHERiPTHR16294 PTHR16294, 1 hit
PfamiView protein in Pfam
PF04440 Dysbindin, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q91WZ8-1) [UniParc]FASTAAdd to basket
Also known as: Dysbindin 1-A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:352
Mass (Da):39,651
Last modified:December 1, 2001 - v1
Checksum:iEE60FB10ECE95361
GO
Isoform 2 (identifier: Q91WZ8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     171-222: Missing.

Show »
Length:300
Mass (Da):33,323
Checksum:iD13F78AB2A09E4C8
GO
Isoform 3 (identifier: Q91WZ8-3) [UniParc]FASTAAdd to basket
Also known as: Dysbindin 1-C

The sequence of this isoform differs from the canonical sequence as follows:
     1-81: Missing.

Show »
Length:271
Mass (Da):30,582
Checksum:i71C7294BC4488139
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K3W4R3K3W4R3_MOUSE
Dysbindin
Dtnbp1
352Annotation score:
A0A1Y7VIX4A0A1Y7VIX4_MOUSE
Dysbindin
Dtnbp1
342Annotation score:
A0A1Y7VP73A0A1Y7VP73_MOUSE
Dysbindin
Dtnbp1
247Annotation score:
A0A1Y7VK42A0A1Y7VK42_MOUSE
Dysbindin
Dtnbp1
178Annotation score:
A0A1Y7VND4A0A1Y7VND4_MOUSE
Dysbindin
Dtnbp1
54Annotation score:
A0A1Y7VJD2A0A1Y7VJD2_MOUSE
Dysbindin
Dtnbp1
66Annotation score:
A0A1Y7VKA2A0A1Y7VKA2_MOUSE
Dysbindin
Dtnbp1
58Annotation score:

Sequence cautioni

The sequence AAH48682 differs from that shown. Reason: Frameshift at position 1.Curated
The sequence BAE35265 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti251A → T in BAE35265 (PubMed:16141072).Curated1
Sequence conflicti280E → G in BAE35265 (PubMed:16141072).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0219391 – 81Missing in isoform 3. 1 PublicationAdd BLAST81
Alternative sequenceiVSP_009024171 – 222Missing in isoform 2. 1 PublicationAdd BLAST52

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
CCDSiCCDS36647.1 [Q91WZ8-1]
RefSeqiNP_080048.2, NM_025772.4 [Q91WZ8-1]
UniGeneiMm.352311

Genome annotation databases

EnsembliENSMUST00000072329; ENSMUSP00000072170; ENSMUSG00000057531 [Q91WZ8-1]
ENSMUST00000222583; ENSMUSP00000152812; ENSMUSG00000057531 [Q91WZ8-3]
GeneIDi94245
KEGGimmu:94245
UCSCiuc007qgw.1 mouse [Q91WZ8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS36647.1 [Q91WZ8-1]
RefSeqiNP_080048.2, NM_025772.4 [Q91WZ8-1]
UniGeneiMm.352311

3D structure databases

SMRiQ91WZ8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi220491, 3 interactors
ComplexPortaliCPX-1913 BLOC-1 complex
CORUMiQ91WZ8
IntActiQ91WZ8, 12 interactors
STRINGi10090.ENSMUSP00000072170

PTM databases

iPTMnetiQ91WZ8
PhosphoSitePlusiQ91WZ8

Proteomic databases

EPDiQ91WZ8
PaxDbiQ91WZ8
PeptideAtlasiQ91WZ8
PRIDEiQ91WZ8

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000072329; ENSMUSP00000072170; ENSMUSG00000057531 [Q91WZ8-1]
ENSMUST00000222583; ENSMUSP00000152812; ENSMUSG00000057531 [Q91WZ8-3]
GeneIDi94245
KEGGimmu:94245
UCSCiuc007qgw.1 mouse [Q91WZ8-1]

Organism-specific databases

CTDi84062
MGIiMGI:2137586 Dtnbp1

Phylogenomic databases

eggNOGiENOG410IF9S Eukaryota
ENOG4111YM1 LUCA
GeneTreeiENSGT00390000010667
HOGENOMiHOG000272621
HOVERGENiHBG051416
InParanoidiQ91WZ8
KOiK20189
OMAiNYNAGAD
PhylomeDBiQ91WZ8
TreeFamiTF332997

Enzyme and pathway databases

ReactomeiR-MMU-432722 Golgi Associated Vesicle Biogenesis

Miscellaneous databases

ChiTaRSiDtnbp1 mouse
PROiPR:Q91WZ8
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000057531 Expressed in 274 organ(s), highest expression level in heart left ventricle
CleanExiMM_DTNBP1
ExpressionAtlasiQ91WZ8 baseline and differential
GenevisibleiQ91WZ8 MM

Family and domain databases

InterProiView protein in InterPro
IPR007531 Dysbindin
PANTHERiPTHR16294 PTHR16294, 1 hit
PfamiView protein in Pfam
PF04440 Dysbindin, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDTBP1_MOUSE
AccessioniPrimary (citable) accession number: Q91WZ8
Secondary accession number(s): Q3TWK1
, Q6WXQ1, Q80ZN4, Q9CY43
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 133 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again