BLOC1S6 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0035646Biological processendosome to melanosome transport
GO_0060271Biological processcilium assembly
GO_0046907Biological processintracellular transport
GO_0071364Biological processcellular response to epidermal growth factor stimulus
GO_0031175Biological processneuron projection development
GO_0008089Biological processanterograde axonal transport
GO_0061025Biological processmembrane fusion
GO_0033299Biological processsecretion of lysosomal enzymes
GO_0021542Biological processdentate gyrus development
GO_0035264Biological processmulticellular organism growth
GO_0001822Biological processkidney development
GO_0006541Biological processglutamine metabolic process
GO_0046085Biological processadenosine metabolic process
GO_0046034Biological processATP metabolic process
GO_0048872Biological processhomeostasis of number of cells
GO_0007596Biological processblood coagulation
GO_0014823Biological processresponse to activity
GO_0006605Biological processprotein targeting
GO_0032438Biological processmelanosome organization
GO_0032402Biological processmelanosome transport
GO_0016081Biological processsynaptic vesicle docking
GO_0051017Biological processactin filament bundle assembly
GO_0048490Biological processanterograde synaptic vesicle transport
GO_0006536Biological processglutamate metabolic process
GO_0033484Biological processintracellular nitric oxide homeostasis
GO_1905144Biological processresponse to acetylcholine
GO_0030318Biological processmelanocyte differentiation
GO_0032816Biological processpositive regulation of natural killer cell activation
GO_0003016Biological processrespiratory system process
GO_0002936Biological processbradykinin biosynthetic process
GO_0003158Biological processendothelium development
GO_0050942Biological processpositive regulation of pigment cell differentiation
GO_0042745Biological processcircadian sleep/wake cycle
GO_0007613Biological processmemory
GO_0006644Biological processphospholipid metabolic process
GO_0010467Biological processgene expression
GO_0055088Biological processlipid homeostasis
GO_0009410Biological processresponse to xenobiotic stimulus
GO_0042311Biological processvasodilation
GO_0021854Biological processhypothalamus development
GO_0048286Biological processlung alveolus development
GO_0071806Biological processprotein transmembrane transport
GO_0001726Cellular componentruffle
GO_0098793Cellular componentpresynapse
GO_0043227Cellular componentmembrane-bounded organelle
GO_0031941Cellular componentfilamentous actin
GO_1990742Cellular componentmicrovesicle
GO_0031201Cellular componentSNARE complex
GO_0044291Cellular componentcell-cell contact zone
GO_0005925Cellular componentfocal adhesion
GO_0070938Cellular componentcontractile ring
GO_0001725Cellular componentstress fiber
GO_0005829Cellular componentcytosol
GO_0031083Cellular componentBLOC-1 complex
GO_0005737Cellular componentcytoplasm
GO_0030133Cellular componenttransport vesicle
GO_0005768Cellular componentendosome
GO_1904115Cellular componentaxon cytoplasm
GO_0042803Molecular functionprotein homodimerization activity
GO_0060090Molecular functionmolecular adaptor activity
GO_0051015Molecular functionactin filament binding
GO_0042802Molecular functionidentical protein binding
GO_0005515Molecular functionprotein binding
GO_0019905Molecular functionsyntaxin binding

IV. Literature review

[source]
Gene nameBLOC1S6
Protein nameBiogenesis of lysosomal organelles complex 1 subunit 6
Biogenesis of lysosomal organelles complex 1 subunit 6 (HCG2001986, isoform CRA_g)
Biogenesis of lysosome-related organelles complex 1 subunit 6 (BLOC-1 subunit 6)
Biogenesis of lysosomal organelles complex 1 subunit 6 (HCG2001986, isoform CRA_c)
Biogenesis of lysosome-related organelles complex 1 subunit 6
Biogenesis of lysosome-related organelles complex 1 subunit 6 (BLOC-1 subunit 6) (Pallid protein homolog) (Pallidin) (Syntaxin 13-interacting protein)
SynonymshCG_2001986
PA
PLDN
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. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. .

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. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. .

AccessionsENST00000564765.1
ENST00000567461.5
H3BNE3
H3BST1
ENST00000565216.5
H3BRA4
ENST00000566801.5
H3BPR6
ENST00000565409.5
A0A5F9ZHH0
H3BR42
H3BML5
ENST00000564310.2
H3BN13
Q9UL45
ENST00000220531.9 [Q9UL45-1]
ENST00000568816.5
ENST00000567523.5 [Q9UL45-2]
H3BMT8
H3BN73
ENST00000565323.6
ENST00000562384.5
ENST00000569076.5
ENST00000672455.1
ENST00000568597.5
ENST00000568963.5