Dtnbp1
entrez
641528
canonical
uniprot
Q5M834
canonical
ensembl
ENSRNOG00000048719
resolver
ensembl
ENSRNOG00055007547
resolver
ensembl
ENSRNOG00060018629
resolver
ensembl
ENSRNOG00065010043
resolver
ensp
ENSRNOP00000099408
resolver
ensp
ENSRNOP00055010042
resolver
ensp
ENSRNOP00060026141
resolver
ensp
ENSRNOP00065012268
resolver
enst
ENSRNOT00000145594
resolver
enst
ENSRNOT00055012625
resolver
enst
ENSRNOT00060032126
resolver
enst
ENSRNOT00065016198
resolver
genesymbol
Dtnbp1
resolver
genesymbol_syn
Bloc1s8
resolver
uniprot
Q6GX90
resolver
uniprot_entry
DTBP1_RAT
resolver
uniprot_sec
Q6GX90
resolver
amino_acid_sequence
MLETLRERLLSVQQDFTSGLKTLSDKSKEAKVKSRPRTAPYLPKYSAGLDLLSRYEDTWAALHRRAKECADAGELVDSEVVMLSAHWEKKRTSLAELQEQLQQLPALLQDVESLMASLAHLETSFEEVENHLLHLEDLCGQCELERHKQAHARHLEDYKKSKRKELEAFKAELDTEHAQKILEMEHTQQLKLKERQKFFEEAFQQDMEQYLSTGHLQIAERREPMGSMSSMEVNVDVLEQMDLMDLSDQEALDVFLNSGGEDNTVISPGLEMESNPSQNEMNLQIPNPSESASQPPASPSACTDLDTADAPLIQADEEEVQVDTALVTLNTDRKSTPGVSDDSDQCDSTQDI
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:16448387, ECO:0000269|PubMed:16760431, ECO:0000269|PubMed:17989303, ECO:0000269|PubMed:19428785}.
uniprot
proteins
mass_dalton
39742
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by TRIM32. Ubiquitination leads to DTNBP1 degradation. {ECO:0000250}.
uniprot
proteins
protein_family
Dysbindin family
uniprot
proteins
pubmed
11316798
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16288221
uniprot
proteins
pubmed
16448387
uniprot
proteins
pubmed
16760431
uniprot
proteins
pubmed
17989303
uniprot
proteins
pubmed
19010779
uniprot
proteins
pubmed
19428785
uniprot
proteins
sequence_length
352
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:19428785}; Peripheral membrane protein {ECO:0000269|PubMed:19428785}; Cytoplasmic side {ECO:0000269|PubMed:19428785}. Endosome membrane {ECO:0000269|PubMed:19428785}; Peripheral membrane protein {ECO:0000269|PubMed:19428785}; Cytoplasmic side {ECO:0000269|PubMed:19428785}. Melanosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Nucleus {ECO:0000250}. Postsynaptic density {ECO:0000269|PubMed:19428785}. Presynaptic cell membrane {ECO:0000269|PubMed:19428785}. Endoplasmic reticulum {ECO:0000250}. 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 (By similarity). Detected in neuron cell bodies, axons and dendrites. Detected at synapses, at postsynaptic density, at presynaptic vesicle membranes and microtubules. Associated with the AP-3 complex at presynaptic terminals. 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. {ECO:0000250}.
uniprot
proteins