Free for academic non-profit institutions. Other users need a Commercial license

Aliases for OSBPL1A Gene

Aliases for OSBPL1A Gene

  • Oxysterol Binding Protein Like 1A 2 3 5
  • Oxysterol Binding Protein-Like 1B 2 3
  • OSBP-Related Protein 1 3 4
  • OSBPL1B 3 4
  • ORP-1 3 4
  • ORP1 3 4
  • Oxysterol-Binding Protein-Related Protein 1 Variant 1 3
  • Oxysterol-Binding Protein-Related Protein 1 Variant 2 3
  • Oxysterol-Binding Protein-Related Protein 1 3
  • Oxysterol Binding Protein-Like 1A 2
  • OSBPL1 4
  • OSBP8 4

External Ids for OSBPL1A Gene

Previous HGNC Symbols for OSBPL1A Gene

  • OSBPL1B

Previous GeneCards Identifiers for OSBPL1A Gene

  • GC18M021634
  • GC18M021473
  • GC18M019994
  • GC18M019993
  • GC18M019996
  • GC18M021742
  • GC18M018598

Summaries for OSBPL1A Gene

Entrez Gene Summary for OSBPL1A 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. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for OSBPL1A Gene

OSBPL1A (Oxysterol Binding Protein Like 1A) is a Protein Coding gene. Among its related pathways are Innate Immune System and Metabolism. Gene Ontology (GO) annotations related to this gene include phospholipid binding and cholesterol binding. An important paralog of this gene is OSBPL2.

UniProtKB/Swiss-Prot for OSBPL1A Gene

  • Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic compartments via its interaction with RAB7A (PubMed:16176980). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).

Gene Wiki entry for OSBPL1A Gene

Additional gene information for OSBPL1A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSBPL1A Gene

Genomics for OSBPL1A Gene

GeneHancer (GH) Regulatory Elements for OSBPL1A Gene

Promoters and enhancers for OSBPL1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I024270 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 557.2 +126.3 126298 2.5 PKNOX1 ARNT SIN3A ZNF2 ZNF121 GLIS2 ZNF416 ZNF143 SP3 CBX8 OSBPL1A GC18M024272 GC18P024219
GH18I024396 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.1 109 2.9 HDGF PKNOX1 CLOCK NEUROD1 SIN3A ZNF2 YY1 GLIS2 KLF7 KLF13 OSBPL1A RMC1 IMPACT ENSG00000264365
GH18I024311 Promoter 0.5 EPDnew 550.2 +86.3 86346 0.1 OSBPL1A MIR320C2 GC18M024272
GH18I024362 Enhancer 0.4 ENCODE 13.1 +35.0 34978 1 SMARCE1 GATA3 DPF2 ENSG00000264365 OSBPL1A IMPACT ENSG00000199636 MIR320C2
GH18I024063 Enhancer 0.9 ENCODE 5.2 +333.3 333322 2.5 ELF3 FOXA2 FEZF1 RAD21 RARA YY1 ZNF366 FOS CREM THAP11 OSBPL1A ANKRD29 ENSG00000265204 PIR46321 TTC39C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OSBPL1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OSBPL1A gene promoter:

Genomic Locations for OSBPL1A Gene

Genomic Locations for OSBPL1A Gene
chr18:24,162,044-24,397,882
(GRCh38/hg38)
Size:
235,839 bases
Orientation:
Minus strand
chr18:21,742,008-21,977,844
(GRCh37/hg19)

Genomic View for OSBPL1A Gene

Genes around OSBPL1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSBPL1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSBPL1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSBPL1A Gene

Proteins for OSBPL1A Gene

  • Protein details for OSBPL1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXW6-OSBL1_HUMAN
    Recommended name:
    Oxysterol-binding protein-related protein 1
    Protein Accession:
    Q9BXW6
    Secondary Accessions:
    • B7Z7D3
    • Q9BZF5
    • Q9NW87

    Protein attributes for OSBPL1A Gene

    Size:
    950 amino acids
    Molecular mass:
    108470 Da
    Quaternary structure:
    • Interacts with VAPA (By similarity). Interacts with the GTP-bound form of RAB7A. Interacts with OAS1B (By similarity).
    SequenceCaution:
    • Sequence=AAG53407.2; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};

    Alternative splice isoforms for OSBPL1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OSBPL1A Gene

Post-translational modifications for OSBPL1A Gene

No Post-translational modifications

No data available for DME Specific Peptides for OSBPL1A Gene

Domains & Families for OSBPL1A Gene

Gene Families for OSBPL1A Gene

Graphical View of Domain Structure for InterPro Entry

Q9BXW6

UniProtKB/Swiss-Prot:

OSBL1_HUMAN :
  • Belongs to the OSBP family.
Family:
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBPL1A: view

Function for OSBPL1A Gene

Molecular function for OSBPL1A Gene

UniProtKB/Swiss-Prot Function:
Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic compartments via its interaction with RAB7A (PubMed:16176980). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193).

Phenotypes From GWAS Catalog for OSBPL1A Gene

Gene Ontology (GO) - Molecular Function for OSBPL1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16176980
GO:0005543 phospholipid binding NAS 11279184
GO:0008289 lipid binding IEA --
GO:0015248 sterol transporter activity TAS --
genes like me logo Genes that share ontologies with OSBPL1A: view
genes like me logo Genes that share phenotypes with OSBPL1A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OSBPL1A Gene

Localization for OSBPL1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSBPL1A Gene

Late endosome. Note=Colocalizes with RAB7A, RAB9A and LAMP1 in late endosomes.

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 OSBPL1A gene
Compartment Confidence
extracellular 5
cytosol 5
endosome 5
nucleus 4
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OSBPL1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IC --
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA,IDA 16176980
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA,IDA 19056867
genes like me logo Genes that share ontologies with OSBPL1A: view

Pathways & Interactions for OSBPL1A Gene

genes like me logo Genes that share pathways with OSBPL1A: view

Pathways by source for OSBPL1A Gene

Gene Ontology (GO) - Biological Process for OSBPL1A 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:0008203 cholesterol metabolic process NAS 10588946
GO:0015918 sterol transport IEA --
genes like me logo Genes that share ontologies with OSBPL1A: view

No data available for SIGNOR curated interactions for OSBPL1A Gene

Drugs & Compounds for OSBPL1A Gene

(12) Additional Compounds for OSBPL1A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PA(16:0/16:0)
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n7)
  • PA(16:0/18:1w7)
PA(16:0/18:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
PA(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
PA(16:0e/18:0)
  • 2-Octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
  • PA(O-16:0/18:0)
genes like me logo Genes that share compounds with OSBPL1A: view

Transcripts for OSBPL1A Gene

Unigene Clusters for OSBPL1A Gene

Oxysterol binding protein-like 1A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL1A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: -
SP4: - -
SP5:
SP6:

ExUns: 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33
SP1:
SP2: - -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for OSBPL1A Gene

GeneLoc Exon Structure for
OSBPL1A
ECgene alternative splicing isoforms for
OSBPL1A

Expression for OSBPL1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSBPL1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OSBPL1A Gene

This gene is overexpressed in Serum (25.1) and Heart (23.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for OSBPL1A Gene



NURSA nuclear receptor signaling pathways regulating expression of OSBPL1A Gene:

OSBPL1A

SOURCE GeneReport for Unigene cluster for OSBPL1A Gene:

Hs.370725

Evidence on tissue expression from TISSUES for OSBPL1A Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with OSBPL1A: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OSBPL1A Gene

Orthologs for OSBPL1A Gene

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

Orthologs for OSBPL1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSBPL1A 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia OSBPL1A 33 34
  • 92.35 (n)
cow
(Bos Taurus)
Mammalia OSBPL1A 33 34
  • 90.39 (n)
oppossum
(Monodelphis domestica)
Mammalia OSBPL1A 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Osbpl1a 33 16 34
  • 87.75 (n)
rat
(Rattus norvegicus)
Mammalia Osbpl1a 33
  • 87.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OSBPL1A 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBPL1A 33 34
  • 78.14 (n)
lizard
(Anolis carolinensis)
Reptilia OSBPL1A 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbpl1a 33
  • 76.35 (n)
Str.18003 33
zebrafish
(Danio rerio)
Actinopterygii OSBPL1A (2 of 2) 34
  • 74 (a)
OneToMany
osbpl1a 33 34
  • 67.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007687 33
  • 58.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3860 34 33 35
  • 55.77 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea obr-2 34
  • 36 (a)
OneToMany
F14H8.1 35
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWH1 34
  • 22 (a)
ManyToMany
OSH2 34
  • 19 (a)
ManyToMany
-- 36
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3550 33
Species where no ortholog for OSBPL1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 (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 OSBPL1A Gene

ENSEMBL:
Gene Tree for OSBPL1A (if available)
TreeFam:
Gene Tree for OSBPL1A (if available)

Paralogs for OSBPL1A Gene

Variants for OSBPL1A Gene

Sequence variations from dbSNP and Humsavar for OSBPL1A Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000043623 -- 24,364,837(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000045506 -- 24,352,044(-) ACA/ genic_upstream_transcript_variant, intron_variant
rs1000067602 -- 24,308,640(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000069924 -- 24,354,215(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000078924 -- 24,222,741(-) T/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for OSBPL1A Gene

Variant ID Type Subtype PubMed ID
esv2476704 CNV deletion 19546169
esv2539637 CNV deletion 19546169
esv2716867 CNV deletion 23290073
esv3555136 CNV deletion 23714750
esv3641977 CNV loss 21293372
esv3641978 CNV loss 21293372
esv3641979 CNV loss 21293372
nsv1070593 CNV deletion 25765185
nsv1146560 CNV deletion 26484159
nsv2229 CNV insertion 18451855
nsv474272 CNV novel sequence insertion 20440878
nsv512520 CNV loss 21212237
nsv522361 CNV loss 19592680
nsv828190 CNV gain 20364138

Variation tolerance for OSBPL1A Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.80; 58.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSBPL1A Gene

Human Gene Mutation Database (HGMD)
OSBPL1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSBPL1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSBPL1A Gene

Disorders for OSBPL1A Gene

Additional Disease Information for OSBPL1A

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

No disorders were found for OSBPL1A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OSBPL1A Gene

Publications for OSBPL1A Gene

  1. Novel members of the human oxysterol-binding protein family bind phospholipids and regulate vesicle transport. (PMID: 11279184) Xu Y … McMaster CR (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. Family of human oxysterol binding protein (OSBP) homologues. A novel member implicated in brain sterol metabolism. (PMID: 10588946) Laitinen S … Ikonen E (Journal of lipid research 1999) 2 3 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. (PMID: 20548944) Hsu YH … Kiel DP (PLoS genetics 2010) 3 44 58
  5. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D … Ferrucci L (PLoS genetics 2008) 3 44 58

Products for OSBPL1A Gene

Sources for OSBPL1A Gene

Content
Loading form....