Gene name:
DTNBP1 (My031;My031;BLOC1S8) ;
Protein name:
Dysbindin ;
Alternative:
Dystrobrevin-binding protein 1 ;Dysbindin-1 (BLOC-1 subunit 8) ;Hermansky-Pudlak syndrome 7 protein (HPS7 protein) ;Hermansky-Pudlak syndrome 7 protein (HPS7 protein) ;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Part of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). The BLOC-1 complex is composed of BLOC1S1, BLOC1S2, BLOC1S3, DTNBP1, MUTED, PLDN, CNO/cappuccino and SNAPIN. Binds to DTNA and DTNB but may not be a physiological binding partner (PubMed:16980328). Interacts with RNF151 and CMYA5 (By similarity). Identified in a complex with the adapter-related protein complex 3 (AP-3). Interacts with TRIM32, AP3M1 and AP3B2. Identified in a complex with the biogenesis of lysosome-related organelles complex 2 (BLOC-2). Interacts with the DNA-dependent protein kinase complex DNA-PK.
Function:
The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. Plays a role in intracellular vesicle trafficking. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. May be required for normal dopamine homeostasis in the cerebral cortex, hippocampus, and hypothalamus. Plays a role in the regulation of cell surface exposure of DRD2. Contributes to the regulation of dopamine signaling. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation.
Subcellular Location:
Cytoplasm
Cytoplasmic vesicle membrane
Peripheral membrane protein
Cytoplasmic side
Cytoplasmic vesicle
secretory vesicle
synaptic vesicle membrane
Peripheral membrane protein
Cytoplasmic side
Endosome membrane
Peripheral membrane protein
Cytoplasmic side
Melanosome membrane
Peripheral membrane protein
Cytoplasmic side
Nucleus
Cell junction
synapse
postsynaptic cell membrane
postsynaptic density
Endoplasmic reticulum
Detected in neuron cell bodies, axons and dendrites. Detected at synapses, at post-synaptic density, at pre-synaptic vesicle membranes and microtubules. 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.
Protein Attributes:
50:
MLETLRERLL | SVQQDFTSGL | KTLSDKSREA | KVKSKPRTVP | FLPKYSAGLE |
100:
LLSRYEDTWA | ALHRRAKDCA | SAGELVDSEV | VMLSAHWEKK | KTSLVELQEQ |
150:
LQQLPALIAD | LESMTANLTH | LEASFEEVEN | NLLHLEDLCG | QCELERCKHM |
200:
QSQQLENYKK | NKRKELETFK | AELDAEHAQK | VLEMEHTQQM | KLKERQKFFE |
250:
EAFQQDMEQY | LSTGYLQIAE | RREPIGSMSS | MEVNVDMLEQ | MDLMDISDQE |
300:
ALDVFLNSGG | EENTVLSPAL | GPESSTCQNE | ITLQVPNPSE | LRAKPPSSSS |
350:
TCTDSATRDI | SEGGESPVVQ | SDEEEVQVDT | ALATSHTDRE | ATPDGGEDSD |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Bovine
Chicken
Rat
Mouse
ELISA Kit for Human Dysbindin
ELISA Kit for Human Dysbindin
ELISA Kit for Human Dysbindin
ELISA Kit for Human Dysbindin
ELISA Kit for Human Dysbindin
CLIA Kit for Human Dysbindin
CLIA Kit for Human Dysbindin
CLIA Kit for Human Dysbindin
CLIA Kit for Human Dysbindin
CLIA Kit for Human Dysbindin
Polyclonal Antibody for Human Dysbindin
Polyclonal Antibody for Human Dysbindin
Polyclonal Antibody for Human Dysbindin
Polyclonal Antibody for Human Dysbindin
Polyclonal Antibody for Human Dysbindin
Monoclonal Antibody for Human Dysbindin
Monoclonal Antibody for Human Dysbindin
Monoclonal Antibody for Human Dysbindin
Monoclonal Antibody for Human Dysbindin
Monoclonal Antibody for Human Dysbindin
Protein for Human Dysbindin
Protein for Human Dysbindin
Protein for Human Dysbindin
Protein for Human Dysbindin
Protein for Human Dysbindin
R&D Technical Data
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Precision
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Recovery
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Linearity
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References
1.
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[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);INVOLVEMENT IN HPS7
tissue :
Placenta .
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
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Brain .
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
tissue :
Brain .
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[
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[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2)
tissue :
Lung .
tissue :
Neuroblastoma .
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Young L.
,
Younger R.M.
,
Bentley D.R.
,
Coulson A.
,
Durbin R.M.
,
Hubbard T.
,
Sulston J.E.
,
Dunham I.
,
Rogers J.
,
Beck S.
more...
Nature425:805-811(2003)
[
PubMed ]
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Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue :
Muscle .
7.
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Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 109-351 (ISOFORM 1)
tissue :
Fetal brain .
8.
"Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia."
Numakawa T.
,
Yagasaki Y.
,
Ishimoto T.
,
Okada T.
,
Suzuki T.
,
Iwata N.
,
Ozaki N.
,
Taguchi T.
,
Tatsumi M.
,
Kamijima K.
,
Straub R.E.
,
Weinberger D.R.
,
Kunugi H.
,
Hashimoto R.
Hum. Mol. Genet.13:2699-2708(2004)
[
PubMed ]
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Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ASSOCIATION WITH SCHIZOPHRENIA;FUNCTION
9.
"Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia."
Talbot K.
,
Eidem W.L.
,
Tinsley C.L.
,
Benson M.A.
,
Thompson E.W.
,
Smith R.J.
,
Hahn C.G.
,
Siegel S.J.
,
Trojanowski J.Q.
,
Gur R.E.
,
Blake D.J.
,
Arnold S.E.
J. Clin. Invest.113:1353-1363(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ASSOCIATION WITH SCHIZOPHRENIA;TISSUE SPECIFICITY (ISOFORMS 1 AND 2);SUBCELLULAR LOCATION
10.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : TISSUE SPECIFICITY;SUBCELLULAR LOCATION
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION;SUBUNIT;SUBCELLULAR LOCATION
12.
"BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles."
Setty S.R.
,
Tenza D.
,
Truschel S.T.
,
Chou E.
,
Sviderskaya E.V.
,
Theos A.C.
,
Lamoreux M.L.
,
Di Pietro S.M.
,
Starcevic M.
,
Bennett D.C.
,
Dell'Angelica E.C.
,
Raposo G.
,
Marks M.S.
Mol. Biol. Cell18:768-780(2007)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
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Cited for : IDENTIFICATION IN THE BLOC-1 COMPLEX;FUNCTION
13.
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Cited for : FUNCTION
14.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-316 AND SER-321;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Cervix carcinoma .
15.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ASSOCIATION WITH SCHIZOPHRENIA
16.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-316 AND SER-321;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Leukemic T-cell .
17.
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Cited for : REVIEW
18.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : FUNCTION
19.
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Cited for : INTERACTION WITH TRIM32;SUBCELLULAR LOCATION;UBIQUITINATION
20.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH AP3M1;MUTAGENESIS OF TYR-215
21.
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Cited for : SUBCELLULAR LOCATION;ALTERNATIVE SPLICING (ISOFORMS 1; 2 AND 3);INTERACTION WITH AP3B2; XRCC5 AND XRCC6 IN THE DNA-DEPENDENT PROTEIN KINASE COMPLEX DNA-PK;PHOSPHORYLATION
22.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ASSOCIATION WITH SCHIZOPHRENIA;FUNCTION
23.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : SUBCELLULAR LOCATION;FUNCTION;INTERACTION WITH XPO1;MUTAGENESIS OF 243-LEU--LEU-256
24.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
25.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ASSOCIATION WITH SCHIZOPHRENIA;TISSUE SPECIFICITY (ISOFORMS 1; 2 AND 3);SUBCELLULAR LOCATION (ISOFORMS 1; 2 AND 3)
26.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : IDENTIFICATION IN THE BLOC-1 COMPLEX;COMPOSITION OF THE BLOC-1 COMPLEX