DTNBP1
entrez
84062
canonical
uniprot
Q96EV8
canonical
ensembl
ENSG00000047579
resolver
ensp
ENSP00000341680
resolver
ensp
ENSP00000344718
resolver
ensp
ENSP00000348183
resolver
ensp
ENSP00000427239
resolver
ensp
ENSP00000481997
resolver
enst
ENST00000355917
resolver
enst
ENST00000462989
resolver
enst
ENST00000622898
resolver
genesymbol
DTNBP1
resolver
genesymbol_syn
BLOC1S8
resolver
hgnc
HGNC:17328
resolver
uniprot
A0A087WYP9
resolver
uniprot
A0A0S2Z5R2
resolver
uniprot
A0A0S2Z5U8
resolver
uniprot
A6NFV8
resolver
uniprot
A8K3V3
resolver
uniprot
D6RJC6
resolver
uniprot
Q5THY3
resolver
uniprot
Q5THY4
resolver
uniprot
Q96NV2
resolver
uniprot
Q9H0U2
resolver
uniprot
Q9H3J5
resolver
uniprot_entry
A0A087WYP9_HUMAN
resolver
uniprot_entry
A0A0S2Z5R2_HUMAN
resolver
uniprot_entry
A0A0S2Z5U8_HUMAN
resolver
uniprot_entry
A6NFV8_HUMAN
resolver
uniprot_entry
D6RJC6_HUMAN
resolver
uniprot_entry
DTBP1_HUMAN
resolver
uniprot_sec
A8K3V3
resolver
uniprot_sec
Q5THY3
resolver
uniprot_sec
Q5THY4
resolver
uniprot_sec
Q96NV2
resolver
uniprot_sec
Q9H0U2
resolver
uniprot_sec
Q9H3J5
resolver
amino_acid_sequence
MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWAALHRRAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTHLEASFEEVENNLLHLEDLCGQCELERCKHMQSQQLENYKKNKRKELETFKAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSDS
uniprot
proteins
disease_involvement
DISEASE: Hermansky-Pudlak syndrome 7 (HPS7) [MIM:614076]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269|PubMed:12923531}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in DTNBP1 are associated with susceptibility to schizophrenia, a mental disorder characterized by a breakdown of thought processes and by poor emotional responsiveness. Genetic mutations lead to alterations in the glutamatergic transmission in the brain and modified Akt signaling (PubMed:15345706). Protein levels and expression are reduced in nerve terminals of the hippocampus and there is an increased release of glutamate in schizophrenic patients (PubMed:15124027). Levels of isoform 1 are reduced in the pSTG, but not in HF, by about 48% in 92% of schizophrenic patients. In the HF, there is an average of 33% reduction in synaptic expression of isoform 2 in 67% of cases, and of isoform 3, an average reduction of 35% in 80% of cases. In the dorsolateral prefrontal cortex (DLPFC), significant reductions in levels of isoform 3 are observed about 71% of schizophrenic patients showed an average reduction of this isoform of about 60% (PubMed:19617633). {ECO:0000269|PubMed:15124027, ECO:0000269|PubMed:15345706, ECO:0000269|PubMed:19617633}.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:15345706, ECO:0000269|PubMed:16837549, ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:17989303, ECO:0000269|PubMed:19094965, ECO:0000269|PubMed:20180862, ECO:0000269|PubMed:20921223}.
uniprot
proteins
mass_dalton
39493
uniprot
proteins
mutagenesis
MUTAGEN 215; /note="Y->A: Reduced interaction with AP3M1."; /evidence="ECO:0000269|PubMed:19428785"; MUTAGEN 243..256; /note="LMDISDQEALDVFL->AMDASDQEAADVFA: Abolishes cytoplasmic location. Increased expression of SYN1."; /evidence="ECO:0000269|PubMed:20921223
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by TRIM32. Ubiquitination leads to DTNBP1 degradation. {ECO:0000269|PubMed:19349376}.; PTM: Isoforms 1 and 2 highly phosphorylated by PRKDC in vitro. Isoform 3 only weakly phosphorylated by PRKDC in vitro. {ECO:0000269|PubMed:19142223}.
uniprot
proteins
protein_family
Dysbindin family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12923531
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15124027
uniprot
proteins
pubmed
15345706
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16837549
uniprot
proteins
pubmed
16980328
uniprot
proteins
pubmed
17182842
uniprot
proteins
pubmed
17989303
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19094965
uniprot
proteins
pubmed
19142223
uniprot
proteins
pubmed
19349376
uniprot
proteins
pubmed
19428785
uniprot
proteins
pubmed
19617633
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20180862
uniprot
proteins
pubmed
20921223
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21390302
uniprot
proteins
pubmed
22203680
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
351
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Endosome membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Melanosome membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Postsynaptic density {ECO:0000269|PubMed:21390302}. Endoplasmic reticulum {ECO:0000250}. Nucleus {ECO:0000269|PubMed:21390302}. 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. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Endosome membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Melanosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Postsynaptic cell membrane {ECO:0000269|PubMed:21390302}. Endoplasmic reticulum {ECO:0000250}. Nucleus {ECO:0000269|PubMed:21390302}. Note=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. Mainly expressed in the dendritic spine. Predominantly a synaptic vesicle isoform but also highly expressed in the nucleus. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Endosome membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Melanosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Postsynaptic cell membrane {ECO:0000269|PubMed:21390302}. Endoplasmic reticulum {ECO:0000250}. Note=Exclusivley cytoplasmic. Predominantly found in the postsynaptic density (PSD). Little association with synaptic vesicles. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals.
uniprot
proteins