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FLASH GENE

Symbol

HPS6

contributors: mct/npt - updated : 02-04-2010

HGNC name	Hermansky-Pudlak syndrome 6
HGNC id	18817

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HPS6 Hermansky-Pudlak syndrome 6
Location	10q24.32      Physical location : 103.825.146 - 103.827.792
Synonym name	Hermansky-Pudlak syndrome-6 protein
	ruby-eye protein homolog
Synonym symbol(s)	FLJ22501, MGC20522, RP11-302K17.1, RU

DNA

TYPE	functioning gene
STRUCTURE	2.65 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_024747 1 - 2674 NP_079023 83 775 - Zhang (2003)

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       highly Endocrine pancreas       highly Reproductive female system placenta     highly   female system ovary     highly Urinary kidney

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Lymhoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

VWFC domain

HOMOLOGY

interspecies	ortholog to murine Hps6
	ortholog to rattus hps6

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION

may be playing a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

components of the BLOC-2 (biogenesis of lysosome-related organelles complex-2) protein complex with HSP3 and HSP5

INTERACTION

DNA

RNA

small molecule

protein

with HPS5

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HPS6

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS