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BLOC1S3

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GENERAL INFORMATION

Gene name

 BLOC1S3

Gene description

 Biogenesis of lysosomal organelles complex-1, subunit 3

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the Golgi apparatus.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Golgi apparatus (approved)

DATA RELIABILITY

Reliability score

 Approved based on 1 antibody.
HPA050111
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the Golgi apparatus.

Main location

 Golgi apparatus (approved)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA050111 HEK 293 Golgi apparatus
HPA050111 PC-3 Golgi apparatus
HPA050111 U-2 OS Golgi apparatus

GENE INFORMATION

Gene name

 BLOC1S3 (HGNC Symbol)

Synonyms

 BLOS3, HPS8

Description

 Biogenesis of lysosomal organelles complex-1, subunit 3 (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]

Chromosome

 19

Cytoband

 q13.32

Chromosome location (bp)

 45178745 - 45181801

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000189114 (version 83.38)

Entrez gene

 388552

UniProt

 Q6QNY0 (UniProt - Evidence at protein level)

neXtProt

 NX_Q6QNY0

Antibodypedia

 BLOC1S3 antibodies

PROTEIN BROWSER
BLOC1S3-001
BLOC1S3-002
BLOC1S3-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BLOC1S3-001
ENSP00000393840
ENST00000433642
Q6QNY0 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 3
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001654 [eye development]
GO:0003674 [molecular_function]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0007596 [blood coagulation]
GO:0008089 [anterograde axon cargo transport]
GO:0008320 [protein transmembrane transporter activity]
GO:0030133 [transport vesicle]
GO:0030168 [platelet activation]
GO:0031083 [BLOC-1 complex]
GO:0031175 [neuron projection development]
GO:0032402 [melanosome transport]
GO:0032438 [melanosome organization]
GO:0032816 [positive regulation of natural killer cell activation]
GO:0033299 [secretion of lysosomal enzymes]
GO:0035646 [endosome to melanosome transport]
GO:0042493 [response to drug]
GO:0043473 [pigmentation]
GO:0048066 [developmental pigmentation]
GO:0048490 [anterograde synaptic vesicle transport]
GO:0060155 [platelet dense granule organization]
GO:0061024 [membrane organization]
GO:0071806 [protein transmembrane transport]
Show all
 202 aa
21.3 kDa 		No 0
BLOC1S3-002
ENSP00000468281
ENST00000587722
Q6QNY0 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 3
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001654 [eye development]
GO:0003674 [molecular_function]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0008089 [anterograde axon cargo transport]
GO:0030133 [transport vesicle]
GO:0030168 [platelet activation]
GO:0031083 [BLOC-1 complex]
GO:0031175 [neuron projection development]
GO:0032402 [melanosome transport]
GO:0032438 [melanosome organization]
GO:0035646 [endosome to melanosome transport]
GO:0043473 [pigmentation]
GO:0048490 [anterograde synaptic vesicle transport]
GO:0060155 [platelet dense granule organization]
GO:0061024 [membrane organization]
Show all
 202 aa
21.3 kDa 		No 0
BLOC1S3-003
ENSP00000466798
ENST00000592910
K7EN58 [Direct mapping]
Biogenesis of lysosome-related organelles complex 1 subunit 3
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   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 78 aa
7.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.