OSBPL8 - oxysterol binding protein like 8 Gene

Homo sapiens

Also known as ORP8; MST120; OSBP10; MSTP120

Gene ID: 114882 | Gene type: protein coding

About OSBPL8

Cytogenetic location: 12q21.2 Genomic coordinates (GRCh38): 12:76,351,797-76,559,771 (from NCBI)

This gene has 18 transcripts (splice variants), 214 orthologues and 11 paralogues. Ubiquitous expression in kidney (RPKM 16.1), lymph node (RPKM 15.4) and 25 other tissues.

Summary

This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

OSBPL8 Products(5)

mRNA	Protein	Name
NM_001003712.2	NP_001003712.1	oxysterol-binding protein-related protein 8 isoform b
NM_001319652.2	NP_001306581.1	oxysterol-binding protein-related protein 8 isoform b
NM_001319653.2	NP_001306582.1	oxysterol-binding protein-related protein 8 isoform c
NM_001319655.2	NP_001306584.1	oxysterol-binding protein-related protein 8 isoform d
NM_020841.5	NP_065892.1	oxysterol-binding protein-related protein 8 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cholesterol binding	IDA IDA: Inferred from direct assay	17428193	GOA
enables phosphatidylinositol-4-phosphate binding	IDA IDA: Inferred from direct assay	26206935	GOA
enables phosphatidylserine binding	IDA IDA: Inferred from direct assay	26206935	GOA
enables phosphatidylserine transfer activity	IDA IDA: Inferred from direct assay	26206935	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24424245	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in fat cell differentiation	IDA IDA: Inferred from direct assay	23028956	GOA
involved in negative regulation of sequestering of triglyceride	IDA IDA: Inferred from direct assay	23028956	GOA
involved in phospholipid transport	IDA IDA: Inferred from direct assay	26206935	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cortical endoplasmic reticulum	IDA IDA: Inferred from direct assay	26206935	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	26206935	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OSBPL8 Protein Structure

Oxysterol_BP

0
200
400
600
800
889 a.a.

Protein Preferred Names

Protein Names

oxysterol-binding protein-related protein 8

OSBP-related protein 8

OSBPL8 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	OSBPL8	Q9BZF1	SPAG5	Homo sapiens	Q96R06	Y2H	24424245
Intra	OSBPL8	Q9BZF1	SPAG5	Homo sapiens	Q96R06	Pull Down	24424245
Intra	OSBPL8	Q9BZF1	SPAG5	Homo sapiens	Q96R06	Confocal	24424245
Intra	OSBPL8	Q9BZF1	SPAG5	Homo sapiens	Q96R06	Anti Bait CoIP	24424245

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Syndrome	Lenz Majewski Hyperostotic Dwarfism
LMHD	Hyperostotic Dwarfism Lenz-Majewski Type
Lenz-Majewski Hyperostotic Dysplasia	Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis
Lms

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09845	OSBPL8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	OSBPL8	VGNC	VGNC:44158
Felis catus	OSBPL8	VGNC	VGNC:63983
Rattus norvegicus	OSBPL8	RGD	RGD:1561474
Macaca mulatta	OSBPL8	VGNC	VGNC:75630
Bos taurus	OSBPL8	VGNC	VGNC:32466
Mus musculus	OSBPL8	MGD	MGI:2443807

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