Protein Description

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

No diseases found.

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

No databases found.

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