BLOC1S1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0051036Biological processregulation of endosome size
GO_0062196Biological processregulation of lysosome size
GO_0031175Biological processneuron projection development
GO_0008089Biological processanterograde axonal transport
GO_0072384Biological processorganelle transport along microtubule
GO_0032438Biological processmelanosome organization
GO_0018394Biological processpeptidyl-lysine acetylation
GO_0048490Biological processanterograde synaptic vesicle transport
GO_0016197Biological processendosomal transport
GO_0060155Biological processplatelet dense granule organization
GO_0032418Biological processlysosome localization
GO_0009060Biological processaerobic respiration
GO_0005615Cellular componentextracellular space
GO_0099078Cellular componentBORC complex
GO_0005769Cellular componentearly endosome
GO_0005758Cellular componentmitochondrial intermembrane space
GO_0098574Cellular componentcytoplasmic side of lysosomal membrane
GO_0005829Cellular componentcytosol
GO_0005759Cellular componentmitochondrial matrix
GO_0031083Cellular componentBLOC-1 complex
GO_1904115Cellular componentaxon cytoplasm
GO_0005765Cellular componentlysosomal membrane
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameBLOC1S1
Protein nameBiogenesis of lysosome-related organelles complex 1 subunit 1
Biogenesis of lysosomal organelles complex 1 subunit 1
Biogenesis of lysosome-related organelles complex 1 subunit 1 (BLOC-1 subunit 1) (GCN5-like protein 1) (Protein RT14)
SynonymsBLOS1
GCN5L1
RT14
DescriptionFUNCTION: 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 . As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor . .; FUNCTION: May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9. .

FUNCTION: May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9. .

FUNCTION: May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9. .

FUNCTION: May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9. .

AccessionsENST00000548556.1
ENST00000553100.1
F8W606
P78537
ENST00000551926.1
G8JLQ3
ENST00000548925.6 [P78537-1]
H0YHA4
ENST00000547076.5
ENST00000549147.1
F8VP73