InnateDB Protein
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IDBP-86392.7
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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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BLOC1S2
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Protein Name
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biogenesis of lysosomal organelles complex-1, subunit 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000359398
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InnateDB Gene
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IDBG-86384 (BLOC1S2)
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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:15102850, ECO:0000269PubMed:15381421, ECO:0000269PubMed:17182842}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:15381421}. Note=Localizes to the centrosomes in a microtubule-dependent manner.
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Disease Associations |
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Tissue Specificity |
Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level). {ECO:0000269PubMed:15381421}.
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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 30 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
30
[view]
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Protein-Protein |
30
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0007020
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microtubule nucleation
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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:0032438
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melanosome organization
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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:0060155
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platelet dense granule organization
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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 |
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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 |
Q6QNY1
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PhosphoSite |
PhosphoSite-Q6QNY1
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TrEMBL |
F1T0F0
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UniProt Splice Variant |
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Entrez Gene |
282991
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UniGene |
Hs.715064
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RefSeq |
NP_776170
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HUGO |
HGNC:20984
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OMIM |
609768
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CCDS |
CCDS7490
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HPRD |
12526
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IMGT |
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EMBL |
AB593084
AK298969
AL138921
AL139819
AY278457
AY531265
BC020494
CH471066
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GenPept |
AAH20494
AAQ19606
AAT00461
BAG61064
BAJ84024
CAH72396
CAH72821
EAW49836
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