InnateDB Protein
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IDBP-169428.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Bloc1s2a
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Protein Name
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biogenesis of lysosome-related organelles complex-1, subunit 2
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Synonyms
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2410089B13Rik; Bloc1s2a; BLOS2;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000078042
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InnateDB Gene
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IDBG-169426 (Bloc1s2a)
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Protein Structure
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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. Plays a role in intracellular vesicle trafficking. May play a role in cell proliferation. {ECO:0000269PubMed:16760431, ECO:0000269PubMed:19546860, ECO:0000269PubMed:21998198}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Note=Localizes to the centrosomes in a microtubule- dependent manner. {ECO:0000250}.
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Disease Associations |
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
GO:0008089
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anterograde axon cargo transport
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GO:0008284
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positive regulation of cell proliferation
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GO:0008625
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extrinsic apoptotic signaling pathway via death domain receptors
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GO:0031175
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neuron projection development
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GO:0045893
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positive regulation of transcription, DNA-templated
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0048490
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anterograde synaptic vesicle transport
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GO:0097345
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mitochondrial outer membrane permeabilization
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Cellular Component |
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PDB ID |
MGI:1920939
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InterPro |
IPR019269
Biogenesis of lysosome-related organelles complex-1, subunit 2
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PFAM |
PF10046
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9CWG9
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PhosphoSite |
PhosphoSite-Q9CWG9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
73689
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UniGene |
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RefSeq |
NP_082883
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MGI ID |
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MGI Symbol |
Bloc1s2
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OMIM |
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CCDS |
CCDS50445
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HPRD |
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IMGT |
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EMBL |
AK010745
AL928960
BC065806
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GenPept |
AAH65806
BAB27155
CAM23662
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