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Aliases for OSBPL5 Gene

Aliases for OSBPL5 Gene

  • Oxysterol Binding Protein Like 5 2 3 5
  • Oxysterol-Binding Protein Homolog 1 3 4
  • OSBP-Related Protein 5 3 4
  • OBPH1 3 4
  • ORP-5 3 4
  • ORP5 3 4
  • Oxysterol-Binding Protein-Related Protein 5 3
  • Oxysterol-Binding Protein Homologue 1 3
  • Oxysterol Binding Protein-Like 5 2
  • EC 2.7.7.6 58
  • KIAA1534 4
  • EC 1.2.1 58

External Ids for OSBPL5 Gene

Previous GeneCards Identifiers for OSBPL5 Gene

  • GC11M003167
  • GC11M003359
  • GC11M003072
  • GC11M003064
  • GC11M002896

Summaries for OSBPL5 Gene

Entrez Gene Summary for OSBPL5 Gene

  • This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]

GeneCards Summary for OSBPL5 Gene

OSBPL5 (Oxysterol Binding Protein Like 5) is a Protein Coding gene. Diseases associated with OSBPL5 include Adult Syndrome. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include cholesterol binding and oxysterol binding. An important paralog of this gene is OSBPL8.

UniProtKB/Swiss-Prot for OSBPL5 Gene

  • Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:23934110, PubMed:26206935). May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes (PubMed:21220512). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).

Gene Wiki entry for OSBPL5 Gene

Additional gene information for OSBPL5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSBPL5 Gene

Genomics for OSBPL5 Gene

Regulatory Elements for OSBPL5 Gene

Enhancers for OSBPL5 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
GH11H003852 1.4 ENCODE dbSUPER 12.1 -690.8 -690782 9 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ENSG00000206976 OSBPL5 TSSC2 STIM1 RHOG RRM1 PPIAP40 MIR4687 GC11P003866 GC11P003868
GH11H003152 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +11.5 11467 5 BCOR ZMYM3 MAX ZIC2 ZFHX2 GLIS2 ZNF316 POLR2A SCRT2 RCOR1 OSBPL5 GC11P003163 ENSG00000236710
GH11H003824 1.2 ENCODE dbSUPER 11.9 -659.4 -659417 3 HDAC1 HNRNPUL1 ATF1 RB1 ARNT ARID4B RAD21 ZNF766 CBX5 GATA2 NUP98 OSBPL5 RRM1 ART5 ART1 CHRNA10 GC11P003826 GC11P003814
GH11H003158 1.4 FANTOM5 ENCODE dbSUPER 9.4 +5.6 5618 4 NFIB KLF17 GLIS2 SCRT2 RCOR1 EGR2 SP3 ZNF623 ZFP69B NFIC OSBPL5 ART1 GC11P003163 ENSG00000236710
GH11H002186 1.3 Ensembl ENCODE dbSUPER 9.8 +979.9 979915 0 CTCF ZNF473 ZSCAN4 MAX GLI4 CDC5L RAD21 ZNF776 ZBTB48 L3MBTL2 LOC390029 RPL36AP39 INS INS-IGF2 IGF2 CD81 ENSG00000199550 RPL26P30 OSBPL5 TH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OSBPL5 on UCSC Golden Path with GeneCards custom track

Promoters for OSBPL5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000036052 1839 1401 TBP KLF1 RB1 MAX ZIC2 E2F1 FOXM1 ZFHX2 GLIS2 CTBP1

Genomic Location for OSBPL5 Gene

Chromosome:
11
Start:
3,087,115 bp from pter
End:
3,166,739 bp from pter
Size:
79,625 bases
Orientation:
Minus strand

Genomic View for OSBPL5 Gene

Genes around OSBPL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSBPL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSBPL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSBPL5 Gene

Proteins for OSBPL5 Gene

  • Protein details for OSBPL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0X9-OSBL5_HUMAN
    Recommended name:
    Oxysterol-binding protein-related protein 5
    Protein Accession:
    Q9H0X9
    Secondary Accessions:
    • A6NDP0
    • A6NJS8
    • B4DVB0
    • Q54A90
    • Q8N596
    • Q9BZB0
    • Q9P1Z4

    Protein attributes for OSBPL5 Gene

    Size:
    879 amino acids
    Molecular mass:
    98616 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • According to a report, the gene is imprinted in placenta, where it is predominantly expressed from the maternal allele only. Not imprinted in other tissues (PubMed:12504849). According to another report, it is not imprinted in trophoblast stem cells (PubMed:20644730).
    SequenceCaution:
    • Sequence=BAA96058.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for OSBPL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OSBPL5 Gene

Selected DME Specific Peptides for OSBPL5 Gene

Q9H0X9:
  • TLELGGK
  • AVKGPKG

Post-translational modifications for OSBPL5 Gene

  • Ubiquitination at posLast=402402
  • Modification sites at PhosphoSitePlus

Domains & Families for OSBPL5 Gene

Gene Families for OSBPL5 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q9H0X9

UniProtKB/Swiss-Prot:

OSBL5_HUMAN :
  • Belongs to the OSBP family.
Family:
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBPL5: view

Function for OSBPL5 Gene

Molecular function for OSBPL5 Gene

UniProtKB/Swiss-Prot Function:
Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:23934110, PubMed:26206935). May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes (PubMed:21220512). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).

Enzyme Numbers (IUBMB) for OSBPL5 Gene

Phenotypes From GWAS Catalog for OSBPL5 Gene

Gene Ontology (GO) - Molecular Function for OSBPL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IDA 23934110
GO:0005548 phospholipid transporter activity TAS --
GO:0008142 oxysterol binding NAS 10588946
GO:0008289 lipid binding IEA --
GO:0015485 cholesterol binding IDA 17428193
genes like me logo Genes that share ontologies with OSBPL5: view
genes like me logo Genes that share phenotypes with OSBPL5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for OSBPL5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OSBPL5 Gene

Localization for OSBPL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSBPL5 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Note=Localizes to the cortical endoplasmic reticulum at the endoplasmic reticulum-plasma membrane contact sites. {ECO:0000269 PubMed:26206935}.

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 OSBPL5 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 4
plasma membrane 1
lysosome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for OSBPL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OSBPL5: view

Pathways & Interactions for OSBPL5 Gene

genes like me logo Genes that share pathways with OSBPL5: view

Gene Ontology (GO) - Biological Process for OSBPL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0006893 Golgi to plasma membrane transport NAS 10588946
GO:0008203 cholesterol metabolic process NAS 10588946
GO:0015914 phospholipid transport IDA 26206935
genes like me logo Genes that share ontologies with OSBPL5: view

No data available for SIGNOR curated interactions for OSBPL5 Gene

Drugs & Compounds for OSBPL5 Gene

No Compound Related Data Available

Transcripts for OSBPL5 Gene

Unigene Clusters for OSBPL5 Gene

Oxysterol binding protein-like 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for OSBPL5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL5 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^
SP1: - - - - - - - -
SP2: - - - - - - - - - - -
SP3:
SP4: - - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - -
SP7: -
SP8:
SP9:
SP10: - -
SP11: - - - - -
SP12: -
SP13: - - - -

ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for OSBPL5 Gene

GeneLoc Exon Structure for
OSBPL5
ECgene alternative splicing isoforms for
OSBPL5

Expression for OSBPL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSBPL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OSBPL5 Gene

This gene is overexpressed in Lung (29.4), Peripheral blood mononuclear cells (9.0), and Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for OSBPL5 Gene



NURSA nuclear receptor signaling pathways regulating expression of OSBPL5 Gene:

OSBPL5

SOURCE GeneReport for Unigene cluster for OSBPL5 Gene:

Hs.436166

mRNA Expression by UniProt/SwissProt for OSBPL5 Gene:

Q9H0X9-OSBL5_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for OSBPL5 Gene

  • Nervous system(4.8)
  • Intestine(4.3)
  • Liver(4.3)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with OSBPL5: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for OSBPL5 Gene

Orthologs for OSBPL5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OSBPL5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSBPL5 33
  • 95.16 (n)
dog
(Canis familiaris)
Mammalia OSBPL5 33 34
  • 88.26 (n)
cow
(Bos Taurus)
Mammalia OSBPL5 33 34
  • 87.65 (n)
mouse
(Mus musculus)
Mammalia Osbpl5 33 16 34
  • 83.16 (n)
rat
(Rattus norvegicus)
Mammalia Osbpl5 33
  • 82.63 (n)
oppossum
(Monodelphis domestica)
Mammalia OSBPL5 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 69 (a)
ManyToMany
chicken
(Gallus gallus)
Aves OSBPL5 33 34
  • 70.11 (n)
lizard
(Anolis carolinensis)
Reptilia OSBPL5 34
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii osbpl5 33 34
  • 63.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5077 35
  • 51 (a)
CG42668 34
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea obr-3 34
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OSH6 33 34
  • 44.34 (n)
OSH7 34 36
  • 31 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ORP4B 33
  • 45.34 (n)
rice
(Oryza sativa)
Liliopsida Os08g0517700 33
  • 44.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToMany
Species where no ortholog for OSBPL5 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)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for OSBPL5 Gene

ENSEMBL:
Gene Tree for OSBPL5 (if available)
TreeFam:
Gene Tree for OSBPL5 (if available)

Paralogs for OSBPL5 Gene

Paralogs for OSBPL5 Gene

genes like me logo Genes that share paralogs with OSBPL5: view

Variants for OSBPL5 Gene

Sequence variations from dbSNP and Humsavar for OSBPL5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000003135 -- 3,146,791(+) GGCCT(A/G)GCACA intron-variant, nc-transcript-variant, utr-variant-5-prime
rs1000013878 -- 3,104,748(+) GCCCA(C/T)CCTGT intron-variant
rs1000031216 -- 3,136,707(+) GGTGA(A/G)TGTGA intron-variant
rs1000047174 -- 3,121,195(+) TGGGA(C/T)TACAG intron-variant, upstream-variant-2KB
rs1000099378 -- 3,137,848(+) GCCCA(C/T)CTAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OSBPL5 Gene

Variant ID Type Subtype PubMed ID
esv1583615 CNV insertion 17803354
esv2667939 CNV deletion 23128226
esv2741616 CNV deletion 23290073
esv2743221 CNV deletion 23290073
esv2744027 CNV deletion 23290073
esv2744028 CNV deletion 23290073
esv3380121 CNV duplication 20981092
esv3397094 CNV duplication 20981092
esv4946 CNV loss 18987735
nsv1069551 CNV deletion 25765185
nsv1126283 CNV deletion 24896259
nsv1141124 CNV deletion 24896259
nsv469931 CNV loss 18288195
nsv509384 CNV insertion 20534489
nsv519468 CNV loss 19592680
nsv553122 CNV loss 21841781
nsv553123 CNV loss 21841781
nsv8766 CNV loss 18304495
nsv951293 CNV deletion 24416366
nsv951294 CNV deletion 24416366

Variation tolerance for OSBPL5 Gene

Residual Variation Intolerance Score: 39.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.04; 80.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OSBPL5 Gene

Human Gene Mutation Database (HGMD)
OSBPL5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSBPL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSBPL5 Gene

Disorders for OSBPL5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OSBPL5 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
adult syndrome
  • acro-dermato-ungual-lacrimal-tooth syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for OSBPL5

Genetic Association Database (GAD)
OSBPL5
Human Genome Epidemiology (HuGE) Navigator
OSBPL5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OSBPL5
genes like me logo Genes that share disorders with OSBPL5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OSBPL5 Gene

Publications for OSBPL5 Gene

  1. INTRACELLULAR TRANSPORT. PI4P/phosphatidylserine countertransport at ORP5- and ORP8-mediated ER-plasma membrane contacts. (PMID: 26206935) Chung J … De Camilli P (Science (New York, N.Y.) 2015) 3 4 60
  2. Interactome map uncovers phosphatidylserine transport by oxysterol-binding proteins. (PMID: 23934110) Maeda K … Gavin AC (Nature 2013) 3 4 60
  3. A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking. (PMID: 21220512) Du X … Yang H (The Journal of cell biology 2011) 3 4 60
  4. Telomeric NAP1L4 and OSBPL5 of the KCNQ1 cluster, and the DECORIN gene are not imprinted in human trophoblast stem cells. (PMID: 20644730) Frost JM … Moore GE (PloS one 2010) 3 4 60
  5. Oxysterol binding protein-related protein-5 is related to invasion and poor prognosis in pancreatic cancer. (PMID: 19032366) Koga Y … Baba H (Cancer science 2008) 3 22 60

Products for OSBPL5 Gene

Sources for OSBPL5 Gene

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