Tissue expression of BLOC1S3 - Summary - The Human Protein Atlas

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

RNA tissue category

HPA:	Mixed
GTEx:	Not detected
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Not detected
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

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 Show all	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 Show all	SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		78 aa 7.9 kDa	No	0