Gene Symbol | BLOC1S6 |
Entrez ID | 26258 |
Uniprot ID | Q9UL45 |
Description | biogenesis of lysosomal organelles complex-1, subunit 6, pallidin |
Chromosomal Location | chr15: 45,587,123-45,615,999 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0007596 |
blood coagulation |
The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. |
IEA |
BP |
GO:0008089 |
anterograde axonal transport |
The directed movement of organelles or molecules along microtubules from the cell body toward the cell periphery in nerve cell axons. |
ISS |
BP |
GO:0016081 |
synaptic vesicle docking |
The initial (indirect) attachment of a synaptic vesicle membrane to the presynaptic active zone membrane, mediated by proteins protruding from the membrane and proteins of the presynaptic active zone cytoplasmic component. |
NAS |
BP |
GO:0030318 |
melanocyte differentiation |
The process in which a relatively unspecialized cell acquires specialized features of a melanocyte. |
IEA |
BP |
GO:0031175 |
neuron projection development |
The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
ISS |
BP |
GO:0032402 |
melanosome transport |
The directed movement of melanosomes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
IDA |
BP |
GO:0032438 |
melanosome organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. |
NAS |
BP |
GO:0032816 |
positive regulation of natural killer cell activation |
Any process that activates or increases the frequency, rate or extent of natural killer cell activation. |
IEA |
BP |
GO:0033299 |
secretion of lysosomal enzymes |
The controlled release of lysosomal enzymes by a cell. |
IEA |
BP |
GO:0035646 |
endosome to melanosome transport |
The directed movement of substances from endosomes to the melanosome, a specialised lysosome-related organelle. |
IDA |
BP |
GO:0048490 |
anterograde synaptic vesicle transport |
The directed movement of synaptic vesicle along axonal microtubules from the cell body to the presynapse. |
ISS |
BP |
GO:0050942 |
positive regulation of pigment cell differentiation |
Any process that activates or increases the frequency, rate or extent of pigment cell differentiation. |
IDA |
BP |
GO:0061025 |
membrane fusion |
The membrane organization process that joins two lipid bilayers to form a single membrane. |
IEA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
IDA |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
CC |
GO:0005768 |
endosome |
A vacuole to which materials ingested by endocytosis are delivered. |
IEA |
CC |
GO:0005829 |
cytosol |
The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
TAS |
CC |
GO:0019898 |
extrinsic component of membrane |
The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
IDA |
CC |
GO:0030133 |
transport vesicle |
Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. |
IDA |
CC |
GO:0031083 |
BLOC-1 complex |
A protein complex required for the biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. Many of the protein subunits are conserved between mouse and human; the mouse complex contains the Pallidin, Muted, Cappuccino, Dysbindin, Snapin, BLOS1, BLOS2, AND BLOS3 proteins. |
IDA |
CC |
GO:0031201 |
SNARE complex |
A protein complex involved in membrane fusion; a stable ternary complex consisting of a four-helix bundle, usually formed from one R-SNARE and three Q-SNAREs with an ionic layer sandwiched between hydrophobic layers. One well-characterized example is the neuronal SNARE complex formed of synaptobrevin 2, syntaxin 1a, and SNAP-25. |
IDA |
CC |
GO:0098793 |
presynapse |
The part of a synapse that is part of the presynaptic cell. |
IEA |
CC |
GO:1904115 |
axon cytoplasm |
Any cytoplasm that is part of a axon. |
IEA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0019905 |
syntaxin binding |
Interacting selectively and non-covalently with a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse. |
TAS |
MF |
GO:0042803 |
protein homodimerization activity |
Interacting selectively and non-covalently with an identical protein to form a homodimer. |
IDA|IPI |
MF |
GO:0051015 |
actin filament binding |
Interacting selectively and non-covalently with an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
IDA |
Domain ID | Description |
---|---|
IPR017242 |
BLOC-1 complex, pallidin subunit |
IPR028119 |
Snapin/Pallidin/Snn1 |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
h_anthraxPathway |
Anthrax Toxin Mechanism of Action |
BioCarta |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
appendix |
glandular cells |
appendix |
lymphoid tissue |
breast |
glandular cells |
breast |
myoepithelial cells |
bronchus |
respiratory epithelial cells |
cerebral cortex |
endothelial cells |
cerebral cortex |
glial cells |
cerebral cortex |
neuronal cells |
cervix, uterine |
glandular cells |
cervix, uterine |
squamous epithelial cells |
colon |
endothelial cells |
colon |
glandular cells |
colon |
peripheral nerve/ganglion |
duodenum |
glandular cells |
endometrium |
cells in endometrial stroma |
endometrium |
glandular cells |
epididymis |
glandular cells |
esophagus |
squamous epithelial cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
heart muscle |
myocytes |
kidney |
cells in glomeruli |
kidney |
cells in tubules |
lung |
macrophages |
lung |
pneumocytes |
lymph node |
non-germinal center cells |
nasopharynx |
respiratory epithelial cells |
ovary |
ovarian stroma cells |
parathyroid gland |
glandular cells |
placenta |
decidual cells |
placenta |
trophoblastic cells |
prostate |
glandular cells |
salivary gland |
glandular cells |
seminal vesicle |
glandular cells |
skin |
fibroblasts |
skin |
keratinocytes |
skin |
Langerhans |
skin |
melanocytes |
skin |
epidermal cells |
small intestine |
glandular cells |
soft tissue |
fibroblasts |
soft tissue |
peripheral nerve |
spleen |
cells in red pulp |
spleen |
cells in white pulp |
stomach |
glandular cells |
testis |
cells in seminiferous ducts |
testis |
Leydig cells |
thyroid gland |
glandular cells |
tonsil |
germinal center cells |
tonsil |
non-germinal center cells |
tonsil |
squamous epithelial cells |
urinary bladder |
urothelial cells |
vagina |
squamous epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
ANK1 |
286 |
P16157 |
0.52 |
SLC4A1 |
6521 |
P02730 |
0.52 |
APP |
351 |
P05067 |
0.56 |
RABGEF1 |
27342 |
Q9UJ41 |
0.63 |
PLEKHA5 |
54477 |
Q9HAU0 |
0.63 |
CCHCR1 |
54535 |
Q8TD31 |
0.63 |
CCDC136 |
64753 |
Q96JN2 |
0.63 |
CORO6 |
84940 |
Q6QEF8 |
0.63 |
IFT20 |
90410 |
Q8IY31 |
0.63 |
HAUS1 |
115106 |
Q96CS2 |
0.63 |
LURAP1 |
541468 |
Q96LR2 |
0.63 |
STX12 |
23673 |
Q86Y82 |
0.77 |
BLOC1S4 |
55330 |
Q9NUP1 |
0.78 |
BLOC1S6 |
26258 |
Q9UL45 |
0.84 |
SNAPIN |
23557 |
O95295 |
0.88 |
BLOC1S5 |
63915 |
Q8TDH9 |
0.88 |
BLOC1S2 |
282991 |
Q6QNY1 |
0.88 |
BLOC1S3 |
388552 |
Q6QNY0 |
0.88 |
DTNBP1 |
84062 |
Q96EV8 |
0.89 |
BLOC1S1 |
2647 |
P78537 |
0.90 |
SYCE3 |
644186 |
A1L190 |
0.63 |
ELAVL1 |
1994 |
Q15717 |
0.63 |
EPS8 |
2059 |
Q12929 |
0.63 |
KRT13 |
3860 |
P13646 |
0.63 |
NDN |
4692 |
Q99608 |
0.63 |
TPM3 |
7170 |
P06753 |
0.63 |
STX11 |
8676 |
O75558 |
0.63 |
CDK5R1 |
8851 |
Q15078 |
0.63 |
MED21 |
9412 |
Q13503 |
0.63 |
ABI2 |
10152 |
Q9NYB9 |
0.63 |
NDC80 |
10403 |
O14777 |
0.63 |
DCTN2 |
10540 |
Q13561 |
0.63 |
NUP62 |
23636 |
P37198 |
0.63 |
CCDC22 |
28952 |
O60826 |
0.63 |
CCDC53 |
51019 |
Q9Y3C0 |
0.63 |
AGGF1 |
55109 |
Q8N302 |
0.63 |
BCAS4 |
55653 |
Q8TDM0 |
0.63 |
PLEKHF2 |
79666 |
Q9H8W4 |
0.63 |
OLFM2 |
93145 |
O95897 |
0.63 |
EXOC8 |
149371 |
Q8IYI6 |
0.63 |
SMN1; SMN2 |
6606 |
Q16637 |
0.63 |
WDYHV1 |
55093 |
Q96HA8 |
0.73 |
SKA1 |
220134 |
Q96BD8 |
0.73 |