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FLASH GENE

Symbol

HPS4

contributors: mct/npt - updated : 23-10-2019

HGNC name	Hermansky-Pudlak syndrome 4
HGNC id	15844

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HPS4 Hermansky-Pudlak syndrome 4
Location	22q12.1      Physical location : 26.847.446 - 26.879.820
Synonym name	mouse 'light ear' protein homolog
	light-ear protein homolog
Synonym symbol(s)	KIAA1667, LE, bK1048E9, BLOC-3, BLOC3S2

DNA

TYPE	functioning gene
STRUCTURE	40.75 kb     14 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_022081 14 splicing 4539 NP_071364 76.9 708 - 2012 23084991 NM_152841 12 splicing 4069 NP_690054 76.4 703 - 2012 23084991 NM_001349905 14 - 4118 NP_001336834 - 655 - 2012 23084991 NM_001349902 12 - 4813 NP_001336831 - 649 - 2012 23084991 NM_001349896 14 - 5055 NP_001336825 - 708 - 2012 23084991 NM_001349901 15 - 5109 NP_001336830 - 726 - 2012 23084991 NM_001349898 15 - 5194 NP_001336827 - 708 - 2012 23084991 NM_001349899 14 - 4995 NP_001336828 - 708 - 2012 23084991 NM_001349900 15 - 5120 NP_001336829 - 726 - 2012 23084991 NM_001349903 14 - 4824 NP_001336832 - 649 - 2012 23084991 NM_001349904 14 - 4129 NP_001336833 - 655 - 2012 23084991

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 Digestive liver         Nervous brain         Reproductive male system testis         male system prostate       Respiratory lung

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to murine Hps4

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic

basic FUNCTION	may be functioning in the pathway of organelle biogenesis
	might function as a RAB9A effector in the biogenesis of lysosome-related organelles (Kloer 2010)
	can promote specific membrane recruitment of RAB32/RAB38, suggesting a novel Rab GEF family with a specific function in the biogenesis of lysosome-related organelles
	encodes a subunit protein of the biogenesis of lysosome-related organelles complex (BLOC)-3, which is involved in late endosomal trafficking
	potential involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia
	HPS4 regulates recycling of VAMP7 from melanosomes, most likely by recruiting RAB38 and consequently ANKRD27 to initiate and/or complete tubule formation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC3, BLOC4, and BLOC5
	components of a cytosolic complex involved in the biogenesis of lysosomal-related organelles by a mechanism distinct from that operated by AP-3 complex
	HPS1/HPS4 heterodimer (Nazarian 2008)

INTERACTION

DNA

RNA

small molecule

protein	mediating interaction between BLOC1S3 and and the switch I and II regions of RAB9A (Kloer 2010)
	specific and strong interaction of HPS1, HPS4 with the GTP-bound form of the endosomal GTPase, RAB9A, RAB9B
	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)
	VAMP7 mediates fusion of BLOC1S6-dependent transport carriers with melanosomes, and illuminate SNARE recycling from melanosomes as a critical HPS4-dependent step
	HPS4 is required for activation of RAB32/RAB38 GTPases in melanogenesis, but its RAB9 activity is dispensable for melanogenesis

cell & other

REGULATION

Other

regulated by RAB9A (regulates its function in lysosome-related organelles biogenesis from an endosomal compartment) (Kloer 2010)

ASSOCIATED DISORDERS

corresponding disease(s)

HPS4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS