OSBPL11 oxysterol binding protein like 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSBPL11provided by HGNC
Official Full Name: oxysterol binding protein like 11provided by HGNC
Primary source: HGNC:HGNC:16397
See related: Ensembl:ENSG00000144909 MIM:606739; AllianceGenome:HGNC:16397
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: ORP11; ORP-11; OSBP12; TCCCIA00292
Summary: This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in spleen (RPKM 8.5), brain (RPKM 8.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (125528858..125595497, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (128255468..128322119, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (125247702..125314341, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Bone mesenchymal stem cell-derived exosomal microRNA-7-5p inhibits progression of acute myeloid leukemia by targeting OSBPL11.
Title: Bone mesenchymal stem cell-derived exosomal microRNA-7-5p inhibits progression of acute myeloid leukemia by targeting OSBPL11.
OSBPL11 is down-regulated and may be a potential indicator for hepatocellular carcinoma.
Title: Serum and tissue proteomic signatures of patients with hepatocellular carcinoma using 2‑D gel electrophoresis.
ORP8 overexpression resulted in reduced expression of the aP2 mRNA, while down-regulation of adiponectin and aP2 was observed in ORP11 silenced cells. ORP8 overexpression or silencing of ORP11 markedly decreased cellular triglyceride storage.
Title: OSBP-related proteins (ORPs) in human adipose depots and cultured adipocytes: evidence for impacts on the adipocyte phenotype.
The results identify ORP11 as an OSBP homologue distributing at the Golgi-LE interface and define the ORP9-ORP11 dimer as a functional unit that may act as an intracellular lipid sensor or transporter.
Title: OSBP-related protein 11 (ORP11) dimerizes with ORP9 and localizes at the Golgi-late endosome interface.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
The OSBPL11 gene is involved in cholesterol and glucose metabolism in obese individuals.
Title: Association of OSBPL11 gene polymorphisms with cardiovascular disease risk factors in obesity.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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

RH75514 (e-PCR)
- UniSTS:87834

RH94277 (e-PCR)
- UniSTS:91677

D8S2279 (e-PCR)
- UniSTS:473907

RH103346 (e-PCR)
- UniSTS:97677

D16S325 (e-PCR)
- UniSTS:147089

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sterol binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of sequestering of triglyceride	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: oxysterol-binding protein-related protein 11

Names: OSBP-related protein 11; testicular tissue protein Li 132

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_022776.5 → NP_073613.2 oxysterol-binding protein-related protein 11

See identical proteins and their annotated locations for NP_073613.2

Status: REVIEWED

Source sequence(s)

BC065213, BX506747, DA112146, DA722217

Consensus CDS

CCDS3033.1

UniProtKB/Swiss-Prot

A8K9I7, Q9BXB4

UniProtKB/TrEMBL

A0A140VJQ6

Related

ENSP00000296220.5, ENST00000296220.6

Conserved Domains (3) summary

cd13291
Location:61 → 167

PH_ORP10_ORP11; Human Oxysterol binding protein (OSBP) related proteins 10 and 11 (ORP10 and ORP11) Pleckstrin homology (PH) domain

pfam00169
Location:63 → 153

PH; PH domain

pfam01237
Location:372 → 732

Oxysterol_BP; Oxysterol-binding protein