OSBP oxysterol binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSBPprovided by HGNC
Official Full Name: oxysterol binding proteinprovided by HGNC
Primary source: HGNC:HGNC:8503
See related: Ensembl:ENSG00000110048 MIM:167040; AllianceGenome:HGNC:8503
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OSBP1
Summary: Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 22.9), kidney (RPKM 22.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (59574398..59615774, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (59525317..59566697, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (59341871..59383247, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Oxysterol-Binding Protein: new insights into lipid transport functions and human diseases.
Title: Oxysterol-Binding Protein: new insights into lipid transport functions and human diseases.
Molecular and cellular dissection of the oxysterol-binding protein cycle through a fluorescent inhibitor.
Title: Molecular and cellular dissection of the oxysterol-binding protein cycle through a fluorescent inhibitor.
OSBP1 recruitment is required for SPI2-mediated alterations that promote vacuolar integrity of salmonellae.
Title: Salmonella Translocated Effectors Recruit OSBP1 to the Phagosome to Promote Vacuolar Membrane Integrity.
The oxysterol binding protein (OSBP) is a storied protein in organelle biology. Its early roles include acting as a membrane contact site (MCS) tether as well as a lipid antiporter.
Title: Oxysterol Binding Protein: Tether, Transporter… and Flux Capacitor?
membrane cholesterol distribution contributes to insulin homeostasis at production, packaging, and export levels through the actions of OSBP and ABCs G1 and A1.
Title: Control of insulin granule formation and function by the ABC transporters ABCG1 and ABCA1 and by oxysterol binding protein OSBP.
the component proteins of the machinery, OSBP, VAP, SAC1, and PITPNB, are all essential host factors for AiV replication. Importantly, the machinery is directly recruited to the RNA replication sites through previously unknown interactions of VAP/OSBP/SAC1 with the AiV proteins and with ACBD3.
Title: Model of OSBP-Mediated Cholesterol Supply to Aichi Virus RNA Replication Sites Involving Protein-Protein Interactions among Viral Proteins, ACBD3, OSBP, VAP-A/B, and SAC1.
results demonstrate that Sac1 expression in either the ER or Golgi apparatus has a minimal impact on the PI-4P that regulates OSBP activity or recruitment to contact sites
Title: Oxysterol-binding protein recruitment and activity at the endoplasmic reticulum-Golgi interface are independent of Sac1.
Cholesterol transfer, PI4P consumption, and control of membrane lipid order by endogenous OSBP have been described.
Title: Sterol transfer, PI4P consumption, and control of membrane lipid order by endogenous OSBP.
Data suggest that OSBP shifts the distribution of phosphatidylinositol 4-phosphate upon localization to endoplasmic reticulum-Golgi contact sites.
Title: Oxysterol-binding Protein Activation at Endoplasmic Reticulum-Golgi Contact Sites Reorganizes Phosphatidylinositol 4-Phosphate Pools.
Our results identify OspB as a regulator of mTORC1 and mTORC1-dependent cell proliferation early during S. flexneri infection and establish a role for IQGAP1 in mTORC1 signaling
Title: Shigella Effector OspB Activates mTORC1 in a Manner That Depends on IQGAP1 and Promotes Cell Proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A006U09 (e-PCR)
- UniSTS:12609

GDB:197854 (e-PCR)
- UniSTS:155969

OSBP (e-PCR)
- UniSTS:25700

OSBP__5791 (e-PCR)
- UniSTS:463755

RH70353 (e-PCR)
- UniSTS:33422

RH11618 (e-PCR)
- UniSTS:78773

G62074 (e-PCR)
- UniSTS:139198

D15S1390 (e-PCR)
- UniSTS:474340

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables oxysterol binding	TAS Traceable Author Statement more info	PubMed
enables phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables sterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables sterol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables sterol transfer activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in bile acid biosynthetic process	TAS Traceable Author Statement more info
involved_in ceramide transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of secretory granule organization	IEA Inferred from Electronic Annotation more info
involved_in sphingomyelin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sterol transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in perinuclear endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: oxysterol-binding protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002556.3 → NP_002547.1 oxysterol-binding protein 1

See identical proteins and their annotated locations for NP_002547.1

Status: REVIEWED

Source sequence(s)

AF185696, AP000442

Consensus CDS

CCDS7974.1

UniProtKB/Swiss-Prot

P22059, Q6P524

Related

ENSP00000263847.1, ENST00000263847.6

Conserved Domains (3) summary

cd13284
Location:91 → 189

PH_OSBP_ORP4; Human Oxysterol binding protein and OSBP-related protein 4 Pleckstrin homology (PH) domain

pfam00169
Location:91 → 181

PH; PH domain

pfam01237
Location:418 → 787

Oxysterol_BP; Oxysterol-binding protein