OSBPL6 - oxysterol binding protein like 6 Gene

Homo sapiens

Also known as ORP6

Gene ID: 114880 | Gene type: protein coding

About OSBPL6

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:178,193,774-178,402,893 (from NCBI)

This gene has 9 transcripts (splice variants), 219 orthologues and 11 paralogues. Broad expression in brain (RPKM 4.0), skin (RPKM 2.6) and 21 other tissues.

Summary

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

OSBPL6 Products(5)

mRNA	Protein	Name
NM_001201480.2	NP_001188409.1	oxysterol-binding protein-related protein 6 isoform c
NM_001201481.2	NP_001188410.1	oxysterol-binding protein-related protein 6 isoform d
NM_001201482.2	NP_001188411.1	oxysterol-binding protein-related protein 6 isoform e
NM_032523.4	NP_115912.1	oxysterol-binding protein-related protein 6 isoform a
NM_145739.3	NP_665682.1	oxysterol-binding protein-related protein 6 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22190034	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of cholesterol transport	IMP IMP: Inferred from mutant phenotype	26941018	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	14593528	GOA
located in early endosome membrane	IDA IDA: Inferred from direct assay	26941018	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	26941018	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	14593528	GOA
located in perinuclear endoplasmic reticulum	IDA IDA: Inferred from direct assay	14593528	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	14593528	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

OSBPL6 Protein Structure

PH_8

Oxysterol_BP

0
200
400
600
800
934 a.a.

Protein Preferred Names

Protein Names

oxysterol-binding protein-related protein 6

ORP-6

Related Diseases

Diseases

Alias

Rhizomelic Chondrodysplasia Punctata, Type 3

Rhizomelic Chondrodysplasia Punctata Type 3	RCDP3
Alkyldihydroxyacetonephosphate Synthase Deficiency	Alkylglycerone-Phosphate Synthase Deficiency
Agps Deficiency	Rhizomelic Chondrodysplasia Punctata 3
Chondrodysplasia Punctata, Rhizomelic, Type 3

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-RS09843	OSBPL6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	OSBPL6	VGNC	VGNC:44156
Macaca mulatta	OSBPL6	VGNC	VGNC:75627
Bos taurus	OSBPL6	VGNC	VGNC:32464
Rattus norvegicus	OSBPL6	RGD	RGD:1308887
Felis catus	OSBPL6	VGNC	VGNC:63981
Mus musculus	OSBPL6	MGD	MGI:2139014

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