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FLASH GENE

Symbol

HPS3

contributors: mct - updated : 19-04-2017

HGNC name	Hermansky-Pudlak syndrome 3
HGNC id	15597

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HPS3 Hermansky-Pudlak syndrome 3
Location	3q24      Physical location : 148.847.370 - 148.891.305
Synonym name	cocoa
Synonym symbol(s)	FLJ22704, SUTAL, DKFZp686F0413, BLOC2S1

DNA

TYPE	functioning gene
STRUCTURE	43.61 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D3S1764 - D3S1583 - D3S1608 - D3S1744 - D3S3618 - D3S3626 - AGTR1 - CPA3 - GYG1 - SMARCA3 - HPS3 HPS3 - CP - D3S3705 - D3S1308 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001308258 16 - 3648 NP_001295187 - 839 - - NM_032383 17 - 4143 NP_115759 113 1004 - -

EXPRESSION

Type	ubiquitous

constitutive of

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         Endocrine pancreas         Nervous brain         Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol   digestive

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a clathrin binding motif in N terminal region,
	two consensus dileucine signals,
	twelve tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage
	a possible ER membrane retention signal at C terminus

HOMOLOGY

interspecies

homolog to murine Hps53

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic,vesicle

basic FUNCTION	playing a role in organelle biogenesis, associated with melanosomes, lysosomes, platelet dense granules
	playing a role in regulation of vesicle trafficking to lysosome-related organelles at the physiological level
	HPS3 is part of BLOC (biogenesis of lysosome-related organelles complex), which sorts and traffics proteins such as tyrosinase (TYR) and tyrosinase-related protein-1 (TYRP1) to developing melanosomes

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	maybe involved in the formation of new vesicles in specialized cells

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

components of the BLOC-2 (biogenesis of lysosome-related organelles complex-2) protein complex

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HPS3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS