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FLASH GENE

Symbol

BLOC1S1

contributors: shn/npt - updated : 16-09-2018

HGNC name	biogenesis of lysosome-related organelles complex-1, subunit 1
HGNC id	4200

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 4 - 0.59 variant 1 13 125 - Starcevic et al, 2004

EXPRESSION

Type	ubiquitous

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 Cardiovascular heart         Digestive liver       highly Lymphoid/Immune lymph node       highly Reproductive male system prostate       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a coiled-coil forming protein
	an acetyltransferase domain
	a bromodomain

HOMOLOGY

interspecies	homolog to to yeast GCN5 general control of amino-acid synthesis 2
	ortholog to Bloc1s1, Mus musculus
	ortholog to BLOC1S1, Pan troglodytes
	ortholog to Bloc1s1, Rattus norvegicus

Homologene

FAMILY	dysbindin family
	BLOC1S1 family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	having histone acetyltransferase activity
	is implicated in lysosomal trafficking of membrane proteins 8)

CELLULAR PROCESS	nucleotide, transcription, regulation
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules

a component

RAB22A forms a complex with BLOC1S1, BLOC1S2 and the kinesin-3 family motor KIF13A on endosomes

INTERACTION

DNA

RNA

small molecule

protein	BLOC1S1 is a component of the BLOC1 multisubunit protein complex
	distinct roles of AP1B1 and AP3B1 in OCA2 transport to melanosomes, indicating that BLOC1S1 can cooperate with either adaptor during cargo sorting to lysosome-related organelles (LROs)
	interacted with SNX2 (a retromer subunit) and TSG101 (an endosomal sorting complex required for transport subunit-I) to mediate EGFR lysosomal trafficking
	BLOC1S1 coordinates the kinesin KIF13A-dependent pulling of endosomal tubules along microtubules to the ANXA2/actin-dependent stabilization and detachment of recycling tubules
	VAMP7 and TYRP1 traffic to melanosomes in BLOC1S1–dependent membrane tubules

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in Hermansky-Pudlak syndrome (down-regulation of either PI4K2A, BLOC1S1, or AP3B1 complex) (Salazar 2009)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS