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FLASH GENE

Symbol

HPS5

contributors: mct/npt - updated : 08-06-2010

HGNC name	Hermansky-Pudlak syndrome 5
HGNC id	17022

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HPS5 Hermansky-Pudlak syndrome 5
Location	11p15.1      Physical location : 18.300.216 - 18.343.721
Synonym name	alpha integrin binding protein 63
	ruby-eye protein 2 homolog
Synonym symbol(s)	KIAA1017, AIBP63, RU2

DNA

TYPE	functioning gene
STRUCTURE	43.51 kb     22 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_181507 23 splicing 4880 NP_852608 127.4 1129 - Zhang, Helip-Wooley (2007) NM_007216 22 - 4723 NP_009147 - 1015 - Zhang, Helip-Wooley (2007) NM_181508 22 splicing 4536 NP_852609 - 1015 - Zhang, Helip-Wooley (2007)

EXPRESSION

Type

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 Endocrine pancreas         Lymphoid/Immune thymus         Nervous brain         Reproductive male system prostate         male system testis       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

intraspecies

homolog to KIAA0329

Homologene

FAMILY

HPS5 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION

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

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	with HSP3 and HSP6 in a complex known as biogenesis of lysosome-related organelles complex-2 (or BLOC2)
	component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2) (Helip-Wooley 2007)

INTERACTION

DNA

RNA

small molecule

protein

HSP6

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HPS5

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS