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FLASH GENE
Symbol OSBP contributors: mct - updated : 09-02-2014
HGNC name oxysterol binding protein
HGNC id 8503
Location 11q12.1      Physical location : 59.341.870 - 59.383.617
Synonym symbol(s) OSB1, OSBP1
DNA
TYPE functioning gene
STRUCTURE 41.75 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
CANP 11q12.2 cancer-associated nucleoprotein FLJ22794 11q12.2 FLJ22794 protein KIAA0937 11q12.3 FLJ22794 protein MPEG1 11q12.2 macrophage expressed gene 1 LOC341112 11q12.2 similar to Tryptophanyl-tRNA synthetase (Tryptophan--tRNA ligase) (TrpRS) (IFP53) (hWRS) LOC390192 11 LOC390192 LOC219976 11q12.2 similar to FLJ00239 protein LOC390193 11 similar to olfactory receptor MOR215-1 LOC390194 11 similar to olfactory receptor MOR215-1 LOC390195 11 similar to Olfactory receptor 5AN1 LOC390196 11 similar to seven transmembrane helix receptor LOC219981 11q12.2 similar to Olfactory receptor 5A2 LOC219982 11q12.2 similar to Olfactory receptor 5A1 (OST181) LOC219983 11q12.2 similar to Olfactory receptor 4D6 LOC390197 11 similar to seven transmembrane helix receptor LOC390198 11 similar to seven transmembrane helix receptor LOC219986 11q12.2 similar to seven transmembrane helix receptor LOC390199 11 similar to Olfactory receptor 4D9 LOC390200 11 similar to olfactory receptor MOR239-1 OSBP 11q12.2 oxysterol binding protein FLJ36874 11q12.2 hypothetical protein FLJ36874 LOC390201 11 similar to seven transmembrane helix receptor LOC390202 11 similar to olfactory receptor GA_x6K02T2RE5P-2207258-2206302 STX3A 11q12.1 syntaxin 3A MRPL16 11q12-q13.1 mitochondrial ribosomal protein L16 GIF 11q12.2 gastric intrinsic factor (vitamin B synthesis) TCN1 11q11-q12 transcobalamin I (vitamin B12 binding protein, R binder family) LOC390203 11 similar to hypothetical protein FLJ13352 LOC255649 11q12.2 hypothetical LOC255649 FLJ36198 11q12.2 hypothetical protein FLJ36198 MS4A3 11q12 membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 5083 - 807 - 2008 17466467
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas    
Hearing/Equilibriumear   highly
Lymphoid/Immunespleen   moderately
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectiveadipose   
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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