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Aliases for OSBPL5 Gene

Aliases for OSBPL5 Gene

  • Oxysterol Binding Protein-Like 5 2 3
  • 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 Homologue 1 3
  • EC 2.7.7.6 63
  • KIAA1534 4
  • EC 1.2.1 63

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. GO annotations related to this gene include cholesterol binding and oxysterol binding. An important paralog of this gene is OSBPL11.

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

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

Genomics for OSBPL5 Gene

Regulatory Elements for OSBPL5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for OSBPL5 Gene at MOPED

Selected DME Specific Peptides for OSBPL5 Gene

Post-translational modifications for OSBPL5 Gene

  • Ubiquitination at Lys 402
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for OSBPL5 Gene

Protein Domains for OSBPL5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H0X9

UniProtKB/Swiss-Prot:

OSBL5_HUMAN :
  • Contains 1 PH domain.
  • Belongs to the OSBP family.
Domain:
  • Contains 1 PH domain.
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

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 IDA 26206935
GO:0008142 oxysterol binding NAS 10588946
GO:0015485 cholesterol binding IDA 17428193
GO:0070273 phosphatidylinositol-4-phosphate binding IDA 26206935
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for OSBPL5

In Situ Assay Products

Flow Cytometry Products

No data available for 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
Jensen Localization Image for OSBPL5 Gene COMPARTMENTS Subcellular localization image for OSBPL5 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 3
endosome 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for OSBPL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol NAS 10588946
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OSBPL5: view

Pathways & Interactions for OSBPL5 Gene

SuperPathways for OSBPL5 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Lipoprotein Signaling & Cholesterol Metabolism in human,mouse,rat

Gene Ontology (GO) - Biological Process for OSBPL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport --
GO:0006893 Golgi to plasma membrane transport NAS 10588946
GO:0008203 cholesterol metabolic process NAS 10588946
GO:0015914 phospholipid transport IDA 26206935
GO:0030301 cholesterol transport NAS 10588946
genes like me logo Genes that share ontologies with OSBPL5: view

No data available for Pathways by source and 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

  • Predesigned siRNA for gene silencing in human,mouse,rat for OSBPL5

Flow Cytometry Products

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 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, MOPED, and MaxQB for OSBPL5 Gene



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.
genes like me logo Genes that share expression patterns with OSBPL5: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia OSBPL5 35
  • 87.65 (n)
  • 88.53 (a)
OSBPL5 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OSBPL5 35
  • 88.26 (n)
  • 88.26 (a)
OSBPL5 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Osbpl5 35
  • 83.16 (n)
  • 85.34 (a)
Osbpl5 16
Osbpl5 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OSBPL5 35
  • 95.16 (n)
  • 93.81 (a)
rat
(Rattus norvegicus)
Mammalia Osbpl5 35
  • 82.63 (n)
  • 85.45 (a)
oppossum
(Monodelphis domestica)
Mammalia OSBPL5 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
ManyToMany
chicken
(Gallus gallus)
Aves OSBPL5 35
  • 70.11 (n)
  • 72.99 (a)
OSBPL5 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSBPL5 36
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii osbpl5 35
  • 63.91 (n)
  • 61.42 (a)
osbpl5 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5077 37
  • 51 (a)
CG42668 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea obr-3 36
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OSH6 35
  • 44.34 (n)
  • 37.54 (a)
OSH6 36
  • 31 (a)
ManyToMany
OSH7 36
  • 31 (a)
ManyToMany
OSH7 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ORP4B 35
  • 45.34 (n)
  • 34.47 (a)
rice
(Oryza sativa)
Liliopsida Os08g0517700 35
  • 44.97 (n)
  • 31.43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
Species with no ortholog for OSBPL5:
  • 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 MAF
rs8813 -- 3,087,276(-) ATATA(C/T)GTACA utr-variant-3-prime
rs729810 -- 3,090,967(+) AGACA(C/T)GCCTG intron-variant
rs734458 -- 3,126,807(+) GGACA(A/G)GAGCT intron-variant
rs895555 -- 3,127,081(+) GTCTG(C/T)GTTTG intron-variant
rs895556 -- 3,161,944(+) GCTGA(C/G)GCCAG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv8766 CNV Loss 18304495
nsv896875 CNV Loss 21882294
nsv509384 CNV Insertion 20534489
dgv1014n71 CNV Loss 21882294
esv2744027 CNV Deletion 23290073
esv2743221 CNV Deletion 23290073
esv2741616 CNV Deletion 23290073
esv4946 CNV Deletion 18987735
esv2667939 CNV Deletion 23128226
esv1583615 CNV Insertion 17803354
nsv896880 CNV Loss 21882294
nsv469931 CNV Loss 18288195
nsv896881 CNV Loss 21882294
esv2744028 CNV Deletion 23290073
nsv519468 CNV Loss 19592680

Variation tolerance for OSBPL5 Gene

Residual Variation Intolerance Score: 39.21% 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

HapMap Linkage Disequilibrium report
OSBPL5
Human Gene Mutation Database (HGMD)
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: DISEASES

Disorder Aliases PubMed IDs
adult syndrome
  • acro-dermato-ungual-lacrimal-tooth syndrome
- elite association

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. Comparative genomic imprinting and expression analysis of six cattle genes. (PMID: 17878280) Zaitoun I. … Khatib H. (J. Anim. Sci. 2008) 23 67
  2. Oxysterol binding protein-related protein-5 is related to invasion and poor prognosis in pancreatic cancer. (PMID: 19032366) Koga Y. … Baba H. (Cancer Sci. 2008) 23 67
  3. PI4P/phosphatidylserine countertransport at ORP5- and ORP8-mediated ER-plasma membrane contacts. (PMID: 26206935) Chung J. … De Camilli P. (Science 2015) 67
  4. Interactome map uncovers phosphatidylserine transport by oxysterol- binding proteins. (PMID: 23934110) Maeda K. … Gavin A.C. (Nature 2013) 67
  5. A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking. (PMID: 21220512) Du X. … Yang H. (J. Cell Biol. 2011) 67

Products for OSBPL5 Gene

Sources for OSBPL5 Gene

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