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Aliases for OSBPL3 Gene

Aliases for OSBPL3 Gene

  • Oxysterol Binding Protein Like 3 2 3 5
  • Oxysterol Binding Protein-Like 3 2 3
  • OSBP-Related Protein 3 3 4
  • OSBP3 3 4
  • ORP-3 3 4
  • ORP3 3 4
  • 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. GO annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBP.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSBPL3 Gene

Genomics for OSBPL3 Gene

Regulatory Elements for OSBPL3 Gene

Promoters for OSBPL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OSBPL3 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for OSBPL3 Gene at MOPED

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 Lys 55
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OSBPL3 Gene

Domains & Families for OSBPL3 Gene

Protein Domains 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).
  • Contains 1 PH domain.
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).
genes like me logo Genes that share phenotypes with OSBPL3: view

Animal Models for OSBPL3 Gene

MGI Knock Outs for OSBPL3:

Animal Model Products

  • Taconic Biosciences Mouse Models for OSBPL3

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for OSBPL3 Gene COMPARTMENTS Subcellular localization image for OSBPL3 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
nucleus 5
plasma membrane 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for OSBPL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA 14593528
GO:0005886 plasma membrane IDA 14593528
GO:0016020 membrane IDA 19946888
GO:0031965 nuclear membrane IDA 14593528
genes like me logo Genes that share ontologies with OSBPL3: view

Pathways & Interactions for OSBPL3 Gene

SuperPathways for OSBPL3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OSBPL3 Gene

None

No data available for Pathways by source and 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:

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 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, MOPED, and MaxQB for OSBPL3 Gene



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).
genes like me logo Genes that share expression patterns with OSBPL3: view

Protein tissue co-expression partners for OSBPL3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia OSBPL3 35
  • 90.82 (n)
  • 93.34 (a)
OSBPL3 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OSBPL3 35
  • 90.68 (n)
  • 94.25 (a)
OSBPL3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Osbpl3 35
  • 85.89 (n)
  • 91.46 (a)
Osbpl3 16
Osbpl3 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OSBPL3 35
  • 99.44 (n)
  • 99.77 (a)
OSBPL3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Osbpl3 35
  • 86.27 (n)
  • 91.31 (a)
oppossum
(Monodelphis domestica)
Mammalia OSBPL3 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OSBPL3 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBPL3 35
  • 76.41 (n)
  • 80.14 (a)
OSBPL3 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSBPL3 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbpl3 35
  • 71.32 (n)
  • 72.93 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.24867 35
si:dkey-15j7.2 35
  • 65.19 (n)
  • 65.68 (a)
OSBPL3 (2 of 2) 36
  • 65 (a)
OneToMany
osbpl3a 36
  • 52 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ORP1B 35
  • 52.82 (n)
  • 45.48 (a)
rice
(Oryza sativa)
Liliopsida Os.35068 35
Os03g0704700 35
  • 53.18 (n)
  • 46.07 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6737 36
  • 36 (a)
OneToMany
Species with no ortholog for OSBPL3:
  • 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
rs11768296 - 24,852,602(+) TGACA(C/T)GATAT nc-transcript-variant, reference, missense
rs114 -- 24,927,227(+) GGGGA(A/G)TTGAC intron-variant
rs115 -- 24,927,136(+) TATGT(A/C)TGGAA intron-variant
rs116 -- 24,925,679(+) TTTCA(C/T)CGCTT intron-variant
rs117 -- 24,924,437(+) AGAGT(C/T)TAACT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7393 OTHER Inversion 18451855
nsv520276 CNV Gain 19592680
nsv5667 CNV Insertion 18451855
esv24690 CNV Loss 19812545
esv994994 CNV Insertion 20482838

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

HapMap Linkage Disequilibrium report
OSBPL3
Human Gene Mutation Database (HGMD)
OSBPL3

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

Disorders for OSBPL3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OSBPL3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
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. 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 67
  2. The R-Ras interaction partner ORP3 regulates cell adhesion. (PMID: 18270267) Lehto M. … Olkkonen V.M. (J. Cell. Sci. 2008) 3 23
  3. 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 23
  4. 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 23
  5. 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 23

Products for OSBPL3 Gene

Sources for OSBPL3 Gene

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