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FLASH GENE

Symbol

OSBP

contributors: mct - updated : 09-02-2014

HGNC name	oxysterol binding protein
HGNC id	8503

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Endocrine pancreas         Hearing/Equilibrium ear       highly Lymphoid/Immune spleen       moderately Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective adipose       Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

fetal, pregnancy

Text	placenta, fetal eye, retina, lens, optic nerve, RPE, choroid

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N terminus (1-88) rich in glycine and alanine (Gly-Ala domain), controling the binding of cholesterol, but not 25-hydroxycholesterol
	a PH domain (90-183)
	a leucine zipper (209-244)
	a FFAT motif (360-364) that binds the ER protein VAP
	a potential casein kinase II phosphorylation site
	a highly conserved OSBP type sterol binding domain in the C terminus, ligand-binding (LB) domain

mono polymer

homomer , heteromer , dimer , trimer , oligo

HOMOLOGY

interspecies	homolog to murine Osbp
	homolog to C.elegans y47D3A.17
	homolog to yeast kes1p

intraspecies	homolog to KIAA1534
	homolog to OSBP2

Homologene

FAMILY	OSBP family
	family of sterol-binding proteins

CATEGORY

regulatory , receptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
text	phosphorylation attenuates OSBP Golgi localization in response to 25-hydroxycholesterol and cholesterol depletion, impairs COL4A3BP Golgi localization, and promotes Golgi fragmentation

basic FUNCTION	involved in the regulation of cholesterol metabolism
	transport of sterols from lysosome to the nucleus
	functioning as a cholesterol-binding scaffolding protein coordinating the activity of two phosphatases to control the extracellular signal-regulated kinase (ERK) signaling pathway
	having dual specific phosphatase activity for phosphorylated ERK (pERK)
	involved in cellular lipid metabolism, vesicle transport and signal transduction
	having a major function in connecting sterol metabolism to critical cell signaling pathways that regulate the cholesterol level of cellular membranes
	possible functional role of OSBP in the HCV (Hepatitis C virus) maturation process
	OSBP/ORPs implicated in sterol signalling and/or sterol transport functions
	implicated in the integration of sterol sensing/transport with sphingomyelin synthesis and cell signaling
	involved in diverse biological processes, including non-vesicular sterol transport and vesicle trafficking
	key regulator of membrane trafficking through the TGN (trans-Golgi network) and endosomal membranes
	acts as a sterol-regulated rheostat for TGN/endosomal phosphatidylinositol 4-phosphate signalling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

linked to a critical signaling pathway in the cell

a component

formed a 440-kilodalton cytosolic oligomer with a member of the PTPPBS family of tyrosine phosphatases, the serine/threonine phosphatase PP2A, and cholesterol

INTERACTION

DNA

RNA

small molecule	other,
	oxysterol
	cholesterol

protein	a member of the PTPPBS family of tyrosine phosphatases
	the serine/threonine phosphatase PP2A
	receptor for 25-OHC, an oxygenated cholesterol
	interacting with NR1H3 (opposes the activity of NR1H3 by negatively regulating ABCA1 activity in the cytoplasm by sterol-binding domain-dependent protein destabilization)
	substrate of PRKD1 at the Golgi
	VAPA, VAPB are endoplasmic reticulum (ER)-resident integral membrane protein that controls a nonvesicular mode of ceramide and cholesterol transfer from the ER to the Golgi complex by interacting with COL4A3BP and oxysterol-binding protein (OSBP), respectively

cell & other

REGULATION

Phosphorylated by

PRKD1 in the Golgi, that does not modulate dimerization, sterol binding, or affinity for PI(4)P

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   enhanced transcription of sterol-regulated proteins, such as low-density lipoprotein (LDL) receptor , whereas it repressed enzymatic activity of ACAT for cholesterol esterification

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	negative regulation of ABCA1 expression by OSBP identifies those receptor as potential therapeutic targets to enhance cholesterol efflux from sensitive tissues

ANIMAL & CELL MODELS