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Gene ID: 388552 | BLOC1S3 Antibody Resource


BLOC1S3 Antibody Resource
Gene Full Name: 
biogenesis of lysosomal organelles complex-1, subunit 3
Uniprot: 
Q6QNY0
Protein Name: 
biogenesis of lysosome-related organelles complex 1 subunit 3
Nucleotide: 
NM_212550
Alias: 
RP;HPS8;BLOS3;
Ensembl: 
ENSG00000189114
Location: 
19q13.32
HPRD: 
12527
NCBI Gene: 
388552
MIM: 
609762

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]
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. Plays a role in intracellular vesicle trafficking.
Subcellular location: 
Cytoplasm.
PTM: 
Phosphoprotein;
Disease: 
Hermansky-Pudlak syndrome 8 (HPS8) [MIM:614077]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Note: The disease is caused by mutations affecting the gene represented in this entry.
Biotechnological use: 

Antibodies
TypeCatalogNameClonalitySpecies ReactivityApplicationSizePriceMore Info
Polyclonal Antibody ARP65298_P050 BLOC1S3 antibody - N-terminal region (ARP65298_P050) Human WB 50ug $289 Details
Polyclonal Antibody ARP65297_P050 BLOC1S3 Antibody (ARP65297_P050) Polyclonal Bovine, Dog, Guinea pig, Human, Mouse, Pig, Rat Not tested 50 ug $125 Details
Polyclonal Antibody OAAB15354 BLOC1S3 antibody - C - terminal region (OAAB15354) Human WB 400ul $289 Details

Show all BLOC1S3 antibodies


Product Images
BLOC1S3 antibody - N-terminal region (ARP65298_P050) in Human Heart cells using Western Blot

Sample Type: Human Heart

BLOC1S3 antibody - C - terminal region (OAAB15354) in A2058 cells using Western Blot

Sample Type: A2058


BLOC1S3 Protocols

Publications
Related Gene Trend Categories
Species
CatalogPredicted Species & TargetTarget ReferencePredicted Homology
ARP65297 Bovine BLOC1S3 antibody; Bos taurus BLOC1S3 antibody A5PJP1 93.0%
ARP65298 Bovine BLOC1S3 antibody; Bos taurus BLOC1S3 antibody A5PJP1 93.0%
ARP65298 Chimpanzee BLOC1S3 antibody; Pan troglodytes BLOC1S3 antibody H2QGL0 100.0%
ARP65297 Chimpanzee BLOC1S3 antibody; Pan troglodytes BLOC1S3 antibody H2QGL0 93.0%
ARP65297 Dog BLOC1S3 antibody; Canis familiaris BLOC1S3 antibody E2RMD0 93.0%
ARP65298 Dog BLOC1S3 antibody; Canis familiaris BLOC1S3 antibody E2RMD0 86.0%
ARP65298 European domestic ferret BLOC1S3 antibody; Mustela putorius furo BLOC1S3 antibody M3Z6N6 93.0%
ARP65297 European domestic ferret BLOC1S3 antibody; Mustela putorius furo BLOC1S3 antibody M3Z6N6 86.0%
ARP65297 Giant panda BLOC1S3 antibody; Ailuropoda melanoleuca BLOC1S3 antibody D2HPA8 86.0%
ARP65298 Human BLOC1S3 antibody; Homo sapiens BLOC1S3 antibody Q6QNY0 100.0%
ARP65297 Human BLOC1S3 antibody; Homo sapiens BLOC1S3 antibody K7EN58 100.0%
ARP65297 Human BLOC1S3 antibody; Homo sapiens BLOC1S3 antibody Q6QNY0 100.0%
ARP65298 Mouse BLOC1S3 antibody; Mus musculus BLOC1S3 antibody Q5U5M8 100.0%
ARP65297 Mouse BLOC1S3 antibody; Mus musculus BLOC1S3 antibody Q5U5M8 86.0%
ARP65297 Pig BLOC1S3 antibody; Sus scrofa BLOC1S3 antibody A5A769 93.0%
ARP65297 Pig BLOC1S3 antibody; Sus scrofa BLOC1S3 antibody M3VK25 93.0%
ARP65298 Pig BLOC1S3 antibody; Sus scrofa BLOC1S3 antibody A5A769 86.0%
ARP65298 Pig BLOC1S3 antibody; Sus scrofa BLOC1S3 antibody M3VK25 86.0%
ARP65298 Rat BLOC1S3 antibody; Rattus norvegicus BLOC1S3 antibody D4A3V6 100.0%
ARP65297 Rat BLOC1S3 antibody; Rattus norvegicus BLOC1S3 antibody D4A3V6 86.0%
ARP65297 Rhesus macaque BLOC1S3 antibody; Macaca mulatta BLOC1S3 antibody F6U731 93.0%
ARP65298 Rhesus macaque BLOC1S3 antibody; Macaca mulatta BLOC1S3 antibody F6U731 93.0%
ARP65297 Rhesus macaque BLOC1S3 antibody; Macaca mulatta BLOC1S3 antibody H9F5N8 93.0%
ARP65297 Sumatran orangutan BLOC1S3 antibody; Pongo abelii BLOC1S3 antibody H2NZ74 93.0%
ARP65298 Sumatran orangutan BLOC1S3 antibody; Pongo abelii BLOC1S3 antibody H2NZ74 93.0%
ARP65298 Zebrafish BLOC1S3 antibody; Danio rerio BLOC1S3 antibody Q4V924 79.0%
ARP65298 Zebrafish BLOC1S3 antibody; Danio rerio BLOC1S3 antibody Q5XJ65 79.0%

Tissue & Cell Line Gene Expression Data