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] See more...

Aliases for OSBPL11 Gene

Aliases for OSBPL11 Gene

  • Oxysterol Binding Protein Like 11 2 3 5
  • Oxysterol-Binding Protein-Related Protein 11 3 4
  • OSBP-Related Protein 11 3 4
  • ORP-11 3 4
  • OSBP12 3 4
  • ORP11 3 4
  • Oxysterol Binding Protein-Like 11 2
  • Testicular Tissue Protein Li 132 3
  • TCCCIA00292 3

External Ids for OSBPL11 Gene

Previous GeneCards Identifiers for OSBPL11 Gene

  • GC03M122014
  • GC03M125278
  • GC03M126529
  • GC03M126568
  • GC03M126730
  • GC03M122623

Summaries for OSBPL11 Gene

Entrez Gene Summary for OSBPL11 Gene

  • 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]

GeneCards Summary for OSBPL11 Gene

OSBPL11 (Oxysterol Binding Protein Like 11) is a Protein Coding gene. Diseases associated with OSBPL11 include Wernicke-Korsakoff Syndrome. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is OSBPL10.

UniProtKB/Swiss-Prot Summary for OSBPL11 Gene

  • Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage (PubMed:23028956). Weakly binds 25-hydroxycholesterol (PubMed:17428193).

Gene Wiki entry for OSBPL11 Gene

Additional gene information for OSBPL11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OSBPL11 Gene

Genomics for OSBPL11 Gene

GeneHancer (GH) Regulatory Elements for OSBPL11 Gene

Promoters and enhancers for OSBPL11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J125591 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.4 1441 7.4 ZBTB40 ZNF217 SIN3A NRF1 POLR2G PHF8 SIX5 ZFX POLR2A ZBTB11 OSBPL11 lnc-ROPN1B-13 OR7E29P ENSG00000242001 ZXDC UMPS ZNF148 LINC02614 OR7E93P piR-47626-003
GH03J125211 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 7.3 +382.5 382513 3.2 USF1 TEAD4 ZFX POLR2A EZH2 MYC PHF8 JUND SIN3A DPF2 SLC12A8 lnc-SLC12A8-1 RNU6-232P OSBPL11 lnc-SLC12A8-2
GH03J125519 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 4.5 +75.6 75581 2.7 ZBTB40 ZNF217 EP300 NRF1 POLR2G PHF8 ZFX ZNF10 ZIC2 POLR2A SNX4 piR-48759-211 OR7E29P SLC12A8 OR7E53P ENSG00000242001 OSBPL11
GH03J125433 Enhancer 1.1 Ensembl ENCODE 5.1 +161.2 161237 2.2 ZNF217 PHB2 ZBTB11 AFF1 TARDBP KLF4 HES1 RELA TOE1 CTBP1 ZNF148 RNU6-232P FAM86JP OSBPL11 ENPP7P4 LOC105374081 lnc-ROPN1B-14
GH03J125191 Enhancer 0.8 Ensembl ENCODE 6.6 +401.6 401639 4.2 CTCF USF1 SMC3 BATF GATA3 IRF4 POU2F2 EBF1 IKZF1 ATF2 MUC13 RNU6-232P OSBPL11 piR-57134-082 SLC12A8 lnc-SLC12A8-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OSBPL11 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OSBPL11

Top Transcription factor binding sites by QIAGEN in the OSBPL11 gene promoter:
  • Brachyury
  • E2F
  • E2F-1
  • GCNF
  • GCNF-1
  • IRF-7A
  • ITF-2
  • NCX
  • RFX1
  • Tal-1beta

Genomic Locations for OSBPL11 Gene

Genomic Locations for OSBPL11 Gene
chr3:125,528,858-125,595,537
(GRCh38/hg38)
Size:
66,680 bases
Orientation:
Minus strand
chr3:125,247,702-125,314,381
(GRCh37/hg19)
Size:
66,680 bases
Orientation:
Minus strand

Genomic View for OSBPL11 Gene

Genes around OSBPL11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSBPL11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSBPL11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSBPL11 Gene

Proteins for OSBPL11 Gene

  • Protein details for OSBPL11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXB4-OSB11_HUMAN
    Recommended name:
    Oxysterol-binding protein-related protein 11
    Protein Accession:
    Q9BXB4
    Secondary Accessions:
    • A8K9I7

    Protein attributes for OSBPL11 Gene

    Size:
    747 amino acids
    Molecular mass:
    83643 Da
    Quaternary structure:
    • Heterodimer with OSBPL9.

    Three dimensional structures from OCA and Proteopedia for OSBPL11 Gene

neXtProt entry for OSBPL11 Gene

Post-translational modifications for OSBPL11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OSBPL11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OSBPL11 Gene

Domains & Families for OSBPL11 Gene

Gene Families for OSBPL11 Gene

Protein Domains for OSBPL11 Gene

Blocks:
  • Pleckstrin-like
  • Oxysterol-binding protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OSBPL11 Gene

GenScript: Design optimal peptide antigens:
  • Oxysterol-binding protein-related protein 11 (OSB11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BXB4

UniProtKB/Swiss-Prot:

OSB11_HUMAN :
  • The PH domain binds phosphoinositides.
  • Belongs to the OSBP family.
Domain:
  • The PH domain binds phosphoinositides.
Family:
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBPL11: view

Function for OSBPL11 Gene

Molecular function for OSBPL11 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage (PubMed:23028956). Weakly binds 25-hydroxycholesterol (PubMed:17428193).

Phenotypes From GWAS Catalog for OSBPL11 Gene

Gene Ontology (GO) - Molecular Function for OSBPL11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IBA 21873635
GO:0032934 sterol binding IBA 21873635
genes like me logo Genes that share ontologies with OSBPL11: view
genes like me logo Genes that share phenotypes with OSBPL11: view

Animal Models for OSBPL11 Gene

MGI Knock Outs for OSBPL11:
  • Osbpl11 Osbpl11<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for OSBPL11 Gene

miRTarBase miRNAs that target OSBPL11

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSBPL11

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OSBPL11 Gene

Localization for OSBPL11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSBPL11 Gene

Late endosome membrane. Golgi apparatus, trans-Golgi network membrane. Note=Localizes at the Golgi-late endosome interface.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OSBPL11 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
endosome 4
cytosol 4
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OSBPL11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IDA,IEA --
GO:0005829 cytosol IBA 21873635
GO:0016020 membrane IBA 21873635
genes like me logo Genes that share ontologies with OSBPL11: view

Pathways & Interactions for OSBPL11 Gene

PathCards logo

SuperPathways for OSBPL11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OSBPL11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0010890 positive regulation of sequestering of triglyceride IMP 23028956
GO:0045444 fat cell differentiation IMP 23028956
genes like me logo Genes that share ontologies with OSBPL11: view

No data available for Pathways by source and SIGNOR curated interactions for OSBPL11 Gene

Drugs & Compounds for OSBPL11 Gene

No Compound Related Data Available

Transcripts for OSBPL11 Gene

mRNA/cDNA for OSBPL11 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSBPL11

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL11 Gene

No ASD Table

Relevant External Links for OSBPL11 Gene

GeneLoc Exon Structure for
OSBPL11

Expression for OSBPL11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OSBPL11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OSBPL11 Gene

This gene is overexpressed in Muscle - Skeletal (x8.5).

Protein differential expression in normal tissues from HIPED for OSBPL11 Gene

This gene is overexpressed in Monocytes (25.8), Peripheral blood mononuclear cells (9.6), and Ovary (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OSBPL11 Gene



Protein tissue co-expression partners for OSBPL11 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OSBPL11

SOURCE GeneReport for Unigene cluster for OSBPL11 Gene:

Hs.477440

mRNA Expression by UniProt/SwissProt for OSBPL11 Gene:

Q9BXB4-OSB11_HUMAN
Tissue specificity: Present at highest levels in ovary, testis, kidney, liver, stomach, brain, and adipose tissue. Strong expression (at protein level) in epithelial cells of kidney tubules, testicular tubules, caecum, and skin (PubMed:20599956). Present at low levels in subcutaneous and visceral adipose tissue (at protein level)(PubMed:23028956).

Evidence on tissue expression from TISSUES for OSBPL11 Gene

  • Liver(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with OSBPL11: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for OSBPL11 Gene

Orthologs for OSBPL11 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for OSBPL11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSBPL11 31 30
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OSBPL11 31 30
  • 92.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OSBPL11 31 30
  • 92.28 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Osbpl11 30
  • 87.48 (n)
mouse
(Mus musculus)
Mammalia Osbpl11 17 31 30
  • 86.73 (n)
oppossum
(Monodelphis domestica)
Mammalia OSBPL11 31
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBPL11 31 30
  • 77.23 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSBPL11 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbpl11 30
  • 67.04 (n)
Str.8471 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.13782 30
zebrafish
(Danio rerio)
Actinopterygii osbpl11 31 30
  • 67.41 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9205 31
  • 37 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OSH7 31
  • 30 (a)
ManyToMany
OSH6 31
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1971 31
  • 43 (a)
OneToMany
Species where no ortholog for OSBPL11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OSBPL11 Gene

ENSEMBL:
Gene Tree for OSBPL11 (if available)
TreeFam:
Gene Tree for OSBPL11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OSBPL11: view image

Paralogs for OSBPL11 Gene

(2) SIMAP similar genes for OSBPL11 Gene using alignment to 1 proteins:

  • OSB11_HUMAN
genes like me logo Genes that share paralogs with OSBPL11: view

Variants for OSBPL11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OSBPL11 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs746035150 A breast cancer sample p.Ser184Leu

Additional dbSNP identifiers (rs#s) for OSBPL11 Gene

Structural Variations from Database of Genomic Variants (DGV) for OSBPL11 Gene

Variant ID Type Subtype PubMed ID
nsv1011457 CNV gain 25217958
nsv10311 CNV gain 18304495
nsv507123 OTHER sequence alteration 20534489
nsv591465 CNV gain 21841781
nsv829713 CNV gain 17160897
nsv829714 CNV gain 17160897

Variation tolerance for OSBPL11 Gene

Residual Variation Intolerance Score: 10.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSBPL11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSBPL11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSBPL11 Gene

Disorders for OSBPL11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OSBPL11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
wernicke-korsakoff syndrome
  • transketolase defect
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OSBPL11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OSBPL11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OSBPL11 Gene

Publications for OSBPL11 Gene

  1. Association of OSBPL11 gene polymorphisms with cardiovascular disease risk factors in obesity. (PMID: 19325544) Bouchard L … Vohl MC (Obesity (Silver Spring, Md.) 2009) 3 23 41 54
  2. OSBP-related proteins (ORPs) in human adipose depots and cultured adipocytes: evidence for impacts on the adipocyte phenotype. (PMID: 23028956) Zhou Y … Olkkonen VM (PloS one 2012) 3 4 54
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  4. OSBP-related protein 11 (ORP11) dimerizes with ORP9 and localizes at the Golgi-late endosome interface. (PMID: 20599956) Zhou Y … Olkkonen VM (Experimental cell research 2010) 3 4 54
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54

Products for OSBPL11 Gene

Sources for OSBPL11 Gene