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Aliases for OSBPL3 Gene

Aliases for OSBPL3 Gene

  • Oxysterol Binding Protein Like 3 2 3 5
  • OSBP-Related Protein 3 3 4
  • OSBP3 3 4
  • ORP-3 3 4
  • ORP3 3 4
  • Oxysterol-Binding Protein-Related Protein 3 3
  • Oxysterol Binding Protein-Like 3 2
  • KIAA0704 4

External Ids for OSBPL3 Gene

Previous HGNC Symbols for OSBPL3 Gene

  • OSBP3

Previous GeneCards Identifiers for OSBPL3 Gene

  • GC07M024478
  • GC07M024578
  • GC07M024609
  • GC07M024804

Summaries for OSBPL3 Gene

Entrez Gene Summary for OSBPL3 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. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for OSBPL3 Gene

OSBPL3 (Oxysterol Binding Protein Like 3) is a Protein Coding gene. Diseases associated with OSBPL3 include Simpson-Golabi-Behmel Syndrome, Type 1 and Simpson-Golabi-Behmel Syndrome. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBPL6.

UniProtKB/Swiss-Prot for OSBPL3 Gene

  • Phosphoinositide-binding protein which associates with both cell and endoplasmic reticulum (ER) membranes (PubMed:16143324). Can bind to the ER membrane protein VAPA and recruit VAPA to plasma membrane sites, thus linking these intracellular compartments (PubMed:25447204). The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface (PubMed:18270267, PubMed:25447204). With VAPA, may regulate ER morphology (PubMed:16143324). Has a role in regulation of the actin cytoskeleton, cell polarity and cell adhesion (PubMed:18270267). Binds to phosphoinositides with preference for PI(3,4)P2 and PI(3,4,5)P3 (PubMed:16143324). Also binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).

Gene Wiki entry for OSBPL3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSBPL3 Gene

Genomics for OSBPL3 Gene

Regulatory Elements for OSBPL3 Gene

Enhancers for OSBPL3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G024819 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.9 +160.0 159951 3.7 PKNOX1 ARNT WRNIP1 ARID4B SIN3A ZNF766 ZNF143 ZNF207 FOS NFYC OSBPL3 DFNA5 C7orf31 SNRPCP19
GH07G024824 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.3 +152.0 151950 10.8 FOXA2 PKNOX1 ARNT SIN3A ARID4B DMAP1 ZNF48 TCF12 ZNF766 GATA2 OSBPL3 DFNA5 C7orf31 SNRPCP19
GH07G024910 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.5 +70.5 70511 2.0 HDAC1 TBP ATF1 TBL1XR1 FEZF1 TCF12 ZNF766 GATA2 EGR1 RELB OSBPL3 CYCS SNRPCP19
GH07G024882 1.1 Ensembl ENCODE 20 +98.3 98328 1.4 HDGF HDAC1 PKNOX1 FEZF1 RAD21 GATA2 FOS EGR2 TSHZ1 ZNF592 OSBPL3 SNRPCP19 DFNA5
GH07G024920 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +59.5 59460 3.5 HDGF PKNOX1 TCF12 GATA2 ZNF207 TBX21 ZNF592 MEF2D MBD2 MAFF OSBPL3 DFNA5 SNRPCP19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OSBPL3 on UCSC Golden Path with GeneCards custom track

Promoters for OSBPL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000209645 934 3401 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 FOS SP3

Genomic Location for OSBPL3 Gene

Chromosome:
7
Start:
24,796,537 bp from pter
End:
24,981,634 bp from pter
Size:
185,098 bases
Orientation:
Minus strand

Genomic View for OSBPL3 Gene

Genes around OSBPL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSBPL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSBPL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSBPL3 Gene

Proteins for OSBPL3 Gene

  • Protein details for OSBPL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4L5-OSBL3_HUMAN
    Recommended name:
    Oxysterol-binding protein-related protein 3
    Protein Accession:
    Q9H4L5
    Secondary Accessions:
    • A4D167
    • A4D168
    • A4D169
    • A4D170
    • A4D171
    • A4D172
    • B8ZZ79
    • B8ZZP0
    • O14591
    • O43357
    • O43358
    • Q8N702
    • Q8N703
    • Q8N704
    • Q8NFH0
    • Q8NFH1
    • Q8NI12
    • Q8NI13
    • Q9BZF4
    • Q9UED6

    Protein attributes for OSBPL3 Gene

    Size:
    887 amino acids
    Molecular mass:
    101224 Da
    Quaternary structure:
    • Homodimer (PubMed:16143324). Interacts with RRAS (PubMed:18270267). Interacts (phosphorylated form) with VAPA (PubMed:16143324, PubMed:25447204).
    SequenceCaution:
    • Sequence=BAA31679.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for OSBPL3 Gene

neXtProt entry for OSBPL3 Gene

Post-translational modifications for OSBPL3 Gene

  • Phosphorylation is enhanced in vitro by phorbol-12-myristate-13-acetate (PMA), forskolin and calcium ionophore A23187 (PubMed:25447204). Phosphorylation seems to be stimulated in conditions of low cell-cell (or cell-matrix) adhesion (PubMed:18270267).
  • Ubiquitination at posLast=5555
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OSBPL3 Gene

Domains & Families for OSBPL3 Gene

Suggested Antigen Peptide Sequences for OSBPL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H4L5

UniProtKB/Swiss-Prot:

OSBL3_HUMAN :
  • The FFAT 2 motif is required for interaction with VAPA and regulation of the endoplasmic reticulum targeting of ORP3. The FFAT 1 motif may contribute to VAPA binding.
  • Belongs to the OSBP family.
Domain:
  • The FFAT 2 motif is required for interaction with VAPA and regulation of the endoplasmic reticulum targeting of ORP3. The FFAT 1 motif may contribute to VAPA binding.
  • The PH domain binds phosphoinositides, with a preference for PI(3,4)P2 and PI(3,4,5)P3. The PH domain mediates targeting to the plasma membrane (PubMed:18270267).
Family:
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBPL3: view

Function for OSBPL3 Gene

Molecular function for OSBPL3 Gene

UniProtKB/Swiss-Prot Function:
Phosphoinositide-binding protein which associates with both cell and endoplasmic reticulum (ER) membranes (PubMed:16143324). Can bind to the ER membrane protein VAPA and recruit VAPA to plasma membrane sites, thus linking these intracellular compartments (PubMed:25447204). The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface (PubMed:18270267, PubMed:25447204). With VAPA, may regulate ER morphology (PubMed:16143324). Has a role in regulation of the actin cytoskeleton, cell polarity and cell adhesion (PubMed:18270267). Binds to phosphoinositides with preference for PI(3,4)P2 and PI(3,4,5)P3 (PubMed:16143324). Also binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).

Gene Ontology (GO) - Molecular Function for OSBPL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22190034
GO:0008289 lipid binding IEA --
GO:0015248 sterol transporter activity TAS --
GO:0015485 cholesterol binding IDA 17428193
genes like me logo Genes that share ontologies with OSBPL3: view
genes like me logo Genes that share phenotypes with OSBPL3: view

Animal Models for OSBPL3 Gene

MGI Knock Outs for OSBPL3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OSBPL3 Gene

Localization for OSBPL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSBPL3 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Cell projection, filopodium tip. Nucleus membrane; Peripheral membrane protein.

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 OSBPL3 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for OSBPL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with OSBPL3: view

Pathways & Interactions for OSBPL3 Gene

genes like me logo Genes that share pathways with OSBPL3: view

Gene Ontology (GO) - Biological Process for OSBPL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0015918 sterol transport IEA --
genes like me logo Genes that share ontologies with OSBPL3: view

No data available for SIGNOR curated interactions for OSBPL3 Gene

Drugs & Compounds for OSBPL3 Gene

No Compound Related Data Available

Transcripts for OSBPL3 Gene

Unigene Clusters for OSBPL3 Gene

Oxysterol binding protein-like 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ·
SP1: - - -
SP2: - - -
SP3: - -
SP4: -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11: - - - -
SP12:

ExUns: 19c · 19d ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8: - - -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for OSBPL3 Gene

GeneLoc Exon Structure for
OSBPL3
ECgene alternative splicing isoforms for
OSBPL3

Expression for OSBPL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSBPL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OSBPL3 Gene

This gene is overexpressed in Breast (40.0) and Peripheral blood mononuclear cells (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for OSBPL3 Gene



Protein tissue co-expression partners for OSBPL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of OSBPL3 Gene:

OSBPL3

SOURCE GeneReport for Unigene cluster for OSBPL3 Gene:

Hs.520259

mRNA Expression by UniProt/SwissProt for OSBPL3 Gene:

Q9H4L5-OSBL3_HUMAN
Tissue specificity: Expressed in a subset of small lymphocytes (at protein level). Expressed at high concentration in kidney, lymph node and thymus. Expressed at moderate concentration in stomach, jejunum, ileum, appendix, spleen, leukocytes, trachea, lung and thyroid gland. Expressed at low concentration in whole brain, esophagus, duodenum, ileocecum, colon, skeletal muscle, bone marrow, placenta and mammary gland (PubMed:14593528). Isoform 1a, isoform 1b, isoform 1c and isoform 1d are highly expressed in brain, bone marrow, colon, kidney, lung, skeletal muscle, spleen, thymus and thyroid. Not expressed in heart and liver. Isoform 2a, isoform 2b, isoform 2c and isoform 2d are expressed in brain, bone marrow, kidney, skeletal muscle, spleen, thymus and thyroid. Not expressed in heart, liver and lung (PubMed:12590732).

Evidence on tissue expression from TISSUES for OSBPL3 Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with OSBPL3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for OSBPL3 Gene

Orthologs for OSBPL3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OSBPL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSBPL3 34 35
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia OSBPL3 34 35
  • 90.82 (n)
dog
(Canis familiaris)
Mammalia OSBPL3 34 35
  • 90.68 (n)
rat
(Rattus norvegicus)
Mammalia Osbpl3 34
  • 86.27 (n)
mouse
(Mus musculus)
Mammalia Osbpl3 16 35 34
  • 85.89 (n)
oppossum
(Monodelphis domestica)
Mammalia OSBPL3 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OSBPL3 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBPL3 35 34
  • 76.41 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSBPL3 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbpl3 34
  • 71.32 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-15j7.2 34
  • 65.19 (n)
OSBPL3 (2 of 2) 35
  • 65 (a)
OneToMany
osbpl3a 35
  • 52 (a)
OneToMany
Dr.24867 34
thale cress
(Arabidopsis thaliana)
eudicotyledons ORP1B 34
  • 52.82 (n)
rice
(Oryza sativa)
Liliopsida Os03g0704700 34
  • 53.18 (n)
Os.35068 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6737 35
  • 36 (a)
OneToMany
Species where no ortholog for OSBPL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OSBPL3 Gene

ENSEMBL:
Gene Tree for OSBPL3 (if available)
TreeFam:
Gene Tree for OSBPL3 (if available)

Paralogs for OSBPL3 Gene

Paralogs for OSBPL3 Gene

(2) SIMAP similar genes for OSBPL3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with OSBPL3: view

Variants for OSBPL3 Gene

Sequence variations from dbSNP and Humsavar for OSBPL3 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000005148 -- 24,944,169(+) TGGAT(A/T)CTTCA intron-variant
rs1000009136 -- 24,812,919(+) TGTTC(C/T)CCAGA intron-variant
rs1000012423 -- 24,865,965(+) CCTGC(C/T)TGTCC intron-variant
rs1000032915 -- 24,906,033(+) AAAAA(G/T)AAAAC intron-variant
rs1000056639 -- 24,862,969(+) ACACC(A/C)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OSBPL3 Gene

Variant ID Type Subtype PubMed ID
esv24690 CNV loss 19812545
esv994994 CNV insertion 20482838
nsv1017694 CNV gain 25217958
nsv477203 CNV novel sequence insertion 20440878
nsv520276 CNV gain 19592680
nsv5667 CNV insertion 18451855
nsv606424 CNV gain 21841781
nsv7393 OTHER inversion 18451855
nsv970452 CNV duplication 23825009

Variation tolerance for OSBPL3 Gene

Residual Variation Intolerance Score: 8.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OSBPL3 Gene

Human Gene Mutation Database (HGMD)
OSBPL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSBPL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSBPL3 Gene

Disorders for OSBPL3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for OSBPL3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
simpson-golabi-behmel syndrome, type 1
  • simpson-golabi-behmel syndrome
simpson-golabi-behmel syndrome
  • bulldog syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for OSBPL3

Genetic Association Database (GAD)
OSBPL3
Human Genome Epidemiology (HuGE) Navigator
OSBPL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OSBPL3
genes like me logo Genes that share disorders with OSBPL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OSBPL3 Gene

Publications for OSBPL3 Gene

  1. The R-Ras interaction partner ORP3 regulates cell adhesion. (PMID: 18270267) Lehto M. … Olkkonen V.M. (J. Cell. Sci. 2008) 3 4 22 64
  2. Targeting of OSBP-related protein 3 (ORP3) to endoplasmic reticulum and plasma membrane is controlled by multiple determinants. (PMID: 16143324) Lehto M. … Olkkonen V.M. (Exp. Cell Res. 2005) 3 4 22 64
  3. Subfamily III of mammalian oxysterol-binding protein (OSBP) homologues: the expression and intracellular localization of ORP3, ORP6, and ORP7. (PMID: 14593528) Lehto M. … Olkkonen V.M. (Cell Tissue Res. 2004) 3 4 22 64
  4. ORP3 splice variants and their expression in human tissues and hematopoietic cells. (PMID: 12590732) Collier F.M. … Kirkland M.A. (DNA Cell Biol. 2003) 3 4 22 64
  5. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 64

Products for OSBPL3 Gene

Sources for OSBPL3 Gene

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