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FLASH GENE

Symbol

BLOC1S3

contributors: mct/npt - updated : 31-05-2023

HGNC name	biogenesis of lysosome-related organelles complex-1, subunit 3
HGNC id	20914

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HPS8 Hermansky-Pudlak syndrome 8
Location	19q13.32      Physical location : 45.682.002 - 45.685.057
Synonym name	BLOC subunit 3
	reduced pigmentation, mouse, homolog of
Synonym symbol(s)	BLOS3, FLJ26641, FLJ26676, RP, HPS8

DNA

TYPE	functioning gene
STRUCTURE	3.06 kb     2 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_212550 2 - 2617 NP_997715 21.1 202 - 2019 30387913

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly   intestine small intestine     highly Reproductive female system ovary     moderately Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone subchondral

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a predicted coiled-coil domain
	an unstructured amino terminal domain
	a domain with a high helical content, similar to that seen in dysbindin (HGPS7)

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

ortholog to murine Bloc1s3

Homologene

FAMILY

BLOC1S3 family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic
text	extracellular matrix of elastic fibers

basic FUNCTION

required for the normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic 2004)

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

part of the complex containing the coiled-coil-forming proteins, Pallidin, Muted, Cappuccino, and Dysbindin (Starcevic 2004)

INTERACTION

DNA

RNA

small molecule

protein

HPS1 and HPS4 encode the HPS1 and HPS4 proteins, which assemble to form a complex known as Biogenesis of Lysosome-related Organelle Complex 3 (BLOC1S3)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HPS8

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS