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, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regu... See more...

Aliases for OSBPL9 Gene

Aliases for OSBPL9 Gene

  • Oxysterol Binding Protein Like 9 2 3 5
  • Oxysterol-Binding Protein-Related Protein 9 3 4
  • OSBP-Related Protein 9 3 4
  • ORP-9 3 4
  • ORP9 3 4
  • Oxysterol Binding Protein-Like 9 2
  • OSBP4 4

External Ids for OSBPL9 Gene

Previous GeneCards Identifiers for OSBPL9 Gene

  • GC01P051710
  • GC01P050971
  • GC01P051441
  • GC01P051452
  • GC01P051794
  • GC01P051855
  • GC01P052042
  • GC01P050200

Summaries for OSBPL9 Gene

Entrez Gene Summary for OSBPL9 Gene

  • 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, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]

GeneCards Summary for OSBPL9 Gene

OSBPL9 (Oxysterol Binding Protein Like 9) is a Protein Coding gene. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is OSBPL11.

Gene Wiki entry for OSBPL9 Gene

Additional gene information for OSBPL9 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OSBPL9 Gene

Genomics for OSBPL9 Gene

GeneHancer (GH) Regulatory Elements for OSBPL9 Gene

Promoters and enhancers for OSBPL9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OSBPL9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OSBPL9

Top Transcription factor binding sites by QIAGEN in the OSBPL9 gene promoter:
  • AREB6
  • NF-1
  • NF-1/L
  • Nkx6-1
  • Pax-3
  • PPAR-alpha
  • SRY

Genomic Locations for OSBPL9 Gene

Genomic Locations for OSBPL9 Gene
chr1:51,577,179-51,798,427
(GRCh38/hg38)
Size:
221,249 bases
Orientation:
Plus strand
chr1:52,042,851-52,254,891
(GRCh37/hg19)
Size:
212,041 bases
Orientation:
Plus strand

Genomic View for OSBPL9 Gene

Genes around OSBPL9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSBPL9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSBPL9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSBPL9 Gene

Proteins for OSBPL9 Gene

  • Protein details for OSBPL9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96SU4-OSBL9_HUMAN
    Recommended name:
    Oxysterol-binding protein-related protein 9
    Protein Accession:
    Q96SU4
    Secondary Accessions:
    • B1AKJ8
    • B3KPQ4
    • D3DQ31
    • Q5TFC0
    • Q6IA67
    • Q86YQ3
    • Q8NB17
    • Q8TAS8
    • Q96SK4
    • Q9H9X2

    Protein attributes for OSBPL9 Gene

    Size:
    736 amino acids
    Molecular mass:
    83185 Da
    Quaternary structure:
    • Heterodimer with OSBPL11 (PubMed:20599956). Interacts with OSBPL10 (PubMed:22906437).

    Alternative splice isoforms for OSBPL9 Gene

neXtProt entry for OSBPL9 Gene

Post-translational modifications for OSBPL9 Gene

  • Ubiquitination at Lys670
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OSBPL9 Gene

Domains & Families for OSBPL9 Gene

Gene Families for OSBPL9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for OSBPL9 Gene

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

Suggested Antigen Peptide Sequences for OSBPL9 Gene

GenScript: Design optimal peptide antigens:
  • Oxysterol-binding protein (B1AKJ6_HUMAN)
  • Oxysterol-binding protein (B1AKJ7_HUMAN)
  • Oxysterol-binding protein (B3KPQ4_HUMAN)
  • Oxysterol-binding protein (B3KW33_HUMAN)
  • Oxysterol-binding protein (E9PJW9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96SU4

UniProtKB/Swiss-Prot:

OSBL9_HUMAN :
  • Belongs to the OSBP family.
Family:
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBPL9: view

Function for OSBPL9 Gene

Phenotypes From GWAS Catalog for OSBPL9 Gene

Gene Ontology (GO) - Molecular Function for OSBPL9 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 OSBPL9: view
genes like me logo Genes that share phenotypes with OSBPL9: view

Animal Model Products

  • Taconic Biosciences Mouse Models for OSBPL9

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OSBPL9 Gene

Localization for OSBPL9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSBPL9 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 OSBPL9 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
endosome 4
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OSBPL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA,IDA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IBA 21873635
GO:0031902 late endosome membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA,IBA --
genes like me logo Genes that share ontologies with OSBPL9: view

Pathways & Interactions for OSBPL9 Gene

genes like me logo Genes that share pathways with OSBPL9: view

Gene Ontology (GO) - Biological Process for OSBPL9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0006869 lipid transport IEA --
genes like me logo Genes that share ontologies with OSBPL9: view

No data available for SIGNOR curated interactions for OSBPL9 Gene

Drugs & Compounds for OSBPL9 Gene

No Compound Related Data Available

Transcripts for OSBPL9 Gene

mRNA/cDNA for OSBPL9 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL9 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a ·
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - -
SP6: -
SP7: -
SP8: - - - -
SP9:
SP10:

ExUns: 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:

Relevant External Links for OSBPL9 Gene

GeneLoc Exon Structure for
OSBPL9

Expression for OSBPL9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OSBPL9 Gene

Protein differential expression in normal tissues from HIPED for OSBPL9 Gene

This gene is overexpressed in Breast (24.5), Liver (6.4), and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OSBPL9 Gene



Protein tissue co-expression partners for OSBPL9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OSBPL9

SOURCE GeneReport for Unigene cluster for OSBPL9 Gene:

Hs.21938

mRNA Expression by UniProt/SwissProt for OSBPL9 Gene:

Q96SU4-OSBL9_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for OSBPL9 Gene

  • Liver(4.4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with OSBPL9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for OSBPL9 Gene

Orthologs for OSBPL9 Gene

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

Orthologs for OSBPL9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSBPL9 31 30
  • 99.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OSBPL9 31 30
  • 94.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OSBPL9 31 30
  • 93.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Osbpl9 17 31 30
  • 91.79 (n)
rat
(Rattus norvegicus)
Mammalia Osbpl9 30
  • 91.7 (n)
oppossum
(Monodelphis domestica)
Mammalia OSBPL9 31
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBPL9 31 30
  • 81.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSBPL9 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbpl9 30
  • 78.92 (n)
Str.16721 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24000 30
zebrafish
(Danio rerio)
Actinopterygii osbpl9 31 30
  • 73.11 (n)
OneToOne
Dr.10500 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005510 30
  • 59.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1513 31 32 30
  • 54.45 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea obr-4 31 30
  • 52.18 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OSH7 31
  • 33 (a)
ManyToMany
OSH6 31
  • 30 (a)
ManyToMany
HES1 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10844 31
  • 53 (a)
OneToOne
Cin.8972 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8972 30
Species where no ortholog for OSBPL9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)

Evolution for OSBPL9 Gene

ENSEMBL:
Gene Tree for OSBPL9 (if available)
TreeFam:
Gene Tree for OSBPL9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OSBPL9: view image

Paralogs for OSBPL9 Gene

(7) SIMAP similar genes for OSBPL9 Gene using alignment to 17 proteins:

  • OSBL9_HUMAN
  • B1AKJ6_HUMAN
  • B3KW33_HUMAN
  • E9PJ80_HUMAN
  • E9PJW9_HUMAN
  • E9PK98_HUMAN
  • E9PKX6_HUMAN
  • E9PLH0_HUMAN
  • E9PNR1_HUMAN
  • G8JLK0_HUMAN
  • H0YCW0_HUMAN
  • H0YDB5_HUMAN
  • H0YE19_HUMAN
  • H0YE93_HUMAN
  • J3KPA3_HUMAN
  • L8EBE2_HUMAN
  • Q9BRN2_HUMAN
genes like me logo Genes that share paralogs with OSBPL9: view

Variants for OSBPL9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OSBPL9 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs140080386 - p.Pro266Leu

Additional dbSNP identifiers (rs#s) for OSBPL9 Gene

Structural Variations from Database of Genomic Variants (DGV) for OSBPL9 Gene

Variant ID Type Subtype PubMed ID
esv1008107 CNV deletion 20482838
esv1052378 CNV insertion 17803354
esv2676547 CNV deletion 23128226
esv3586041 CNV loss 21293372
esv3586042 CNV loss 21293372
esv3586043 CNV loss 21293372
nsv1119688 CNV deletion 24896259
nsv508193 CNV deletion 20534489
nsv945941 CNV duplication 23825009

Variation tolerance for OSBPL9 Gene

Residual Variation Intolerance Score: 31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.18; 39.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSBPL9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSBPL9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSBPL9 Gene

Disorders for OSBPL9 Gene

Additional Disease Information for OSBPL9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for OSBPL9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OSBPL9 Gene

Publications for OSBPL9 Gene

  1. OSBPL10, a novel candidate gene for high triglyceride trait in dyslipidemic Finnish subjects, regulates cellular lipid metabolism. (PMID: 19554302) Perttilä J … Olkkonen VM (Journal of molecular medicine (Berlin, Germany) 2009) 3 23 41 54
  2. 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
  3. 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
  4. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PMID: 19413330) Gauci S … Mohammed S (Analytical chemistry 2009) 3 4 54
  5. MicroRNA-125a-5p partly regulates the inflammatory response, lipid uptake, and ORP9 expression in oxLDL-stimulated monocyte/macrophages. (PMID: 19377067) Chen T … Wang C (Cardiovascular research 2009) 3 23 54

Products for OSBPL9 Gene