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Aliases for OSBPL1A Gene

Aliases for OSBPL1A Gene

  • Oxysterol Binding Protein-Like 1A 2 3
  • 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
  • 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 Immune System and MHC class II antigen presentation. GO annotations related to this gene include phospholipid binding and cholesterol binding. An important paralog of this gene is OSBP.

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

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

Genomics for OSBPL1A Gene

Regulatory Elements for OSBPL1A Gene

Epigenetics Products

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

Genomic Location for OSBPL1A Gene

Chromosome:
18
Start:
24,162,044 bp from pter
End:
24,397,882 bp from pter
Size:
235,839 bases
Orientation:
Minus strand

Genomic View for OSBPL1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for OSBPL1A Gene at MOPED

Post-translational modifications for OSBPL1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for OSBPL1A Gene

Domains & Families for OSBPL1A Gene

Graphical View of Domain Structure for InterPro Entry

Q9BXW6

UniProtKB/Swiss-Prot:

OSBL1_HUMAN :
  • Contains 1 PH domain.
  • Belongs to the OSBP family.
  • Contains 3 ANK repeats.
Domain:
  • Contains 1 PH domain.
Family:
  • Belongs to the OSBP family.
Similarity:
  • Contains 3 ANK repeats.
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).

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:0015485 cholesterol binding IDA 17428193
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OSBPL1A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for OSBPL1A Gene COMPARTMENTS Subcellular localization image for OSBPL1A gene
Compartment Confidence
endosome 5
extracellular 5
lysosome 4
nucleus 4
vacuole 4
cytosol 2

Gene Ontology (GO) - Cellular Components for OSBPL1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IC 11279184
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005765 lysosomal membrane TAS --
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

PCR Array Products

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

Gene Ontology (GO) - Biological Process for OSBPL1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0008203 cholesterol metabolic process NAS 10588946
GO:0016192 vesicle-mediated transport NAS 11279184
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OSBPL1A

Flow Cytometry 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 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, MOPED, and MaxQB for OSBPL1A Gene



SOURCE GeneReport for Unigene cluster for OSBPL1A Gene Hs.370725

genes like me logo Genes that share expression patterns with OSBPL1A: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 36
  • 99 (a)
OneToOne
OSBPL1A 35
  • 99.58 (n)
  • 99.47 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia OSBPL1A 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Osbpl1a 36
  • 92 (a)
OneToOne
Osbpl1a 16
Osbpl1a 35
  • 87.75 (n)
  • 92 (a)
oppossum
(Monodelphis domestica)
Mammalia OSBPL1A 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OSBPL1A 36
  • 95 (a)
OneToOne
OSBPL1A 35
  • 92.35 (n)
  • 95.16 (a)
cow
(Bos Taurus)
Mammalia OSBPL1A 36
  • 94 (a)
OneToOne
OSBPL1A 35
  • 90.39 (n)
  • 94.21 (a)
rat
(Rattus norvegicus)
Mammalia Osbpl1a 35
  • 87.61 (n)
  • 92 (a)
chicken
(Gallus gallus)
Aves OSBPL1A 36
  • 82 (a)
OneToOne
OSBPL1A 35
  • 78.14 (n)
  • 82.11 (a)
lizard
(Anolis carolinensis)
Reptilia OSBPL1A 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.18003 35
osbpl1a 35
  • 76.35 (n)
  • 86.5 (a)
zebrafish
(Danio rerio)
Actinopterygii OSBPL1A (2 of 2) 36
  • 74 (a)
OneToMany
osbpl1a 36
  • 68 (a)
OneToMany
osbpl1a 35
  • 67.23 (n)
  • 70.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3860 36
  • 51 (a)
OneToMany
CG3860 35
  • 55.77 (n)
  • 54.96 (a)
CG3860 37
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007687 35
  • 58.46 (n)
  • 59.95 (a)
worm
(Caenorhabditis elegans)
Secernentea obr-2 36
  • 36 (a)
OneToMany
F14H8.1 37
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 38
SWH1 36
  • 22 (a)
ManyToMany
OSH2 36
  • 19 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3550 35
Species with no ortholog for OSBPL1A:
  • 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

Paralogs for OSBPL1A Gene

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

Variants for OSBPL1A Gene

Sequence variations from dbSNP and Humsavar for OSBPL1A Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs11872972 -- 24,315,747(+) atata(A/T)aatat intron-variant
rs11873350 -- 24,283,625(+) AACAC(A/G)AACTG intron-variant
rs11872316 -- 24,315,736(+) tatat(A/T)ataaa intron-variant
rs11665582 -- 24,188,642(+) CCAGA(C/T)TGCCA intron-variant
rs11665434 -- 24,246,560(+) cagag(A/G)tgggc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv909459 CNV Gain 21882294
nsv909460 CNV Gain 21882294
nsv2229 CNV Insertion 18451855
nsv828190 CNV Gain 20364138
esv2476704 CNV Deletion 19546169
nsv512520 CNV Loss 21212237
esv2716867 CNV Deletion 23290073
esv2539637 CNV Deletion 19546169
nsv522361 CNV Loss 19592680

Variation tolerance for OSBPL1A Gene

Residual Variation Intolerance Score: 19.82% 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)

Relevant External Links for OSBPL1A Gene

HapMap Linkage Disequilibrium report
OSBPL1A
Human Gene Mutation Database (HGMD)
OSBPL1A

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

Disorders for OSBPL1A Gene

Relevant External Links for OSBPL1A

Genetic Association Database (GAD)
OSBPL1A
Human Genome Epidemiology (HuGE) Navigator
OSBPL1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OSBPL1A
genes like me logo Genes that share disorders with OSBPL1A: view

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 C.R. (J. Biol. Chem. 2001) 2 23 67
  2. Family of human oxysterol binding protein (OSBP) homologues. A novel member implicated in brain sterol metabolism. (PMID: 10588946) Laitinen S. … Ikonen E. (J. Lipid Res. 1999) 2 23 67
  3. The two variants of oxysterol binding protein-related protein-1 display different tissue expression patterns, have different intracellular localization, and are functionally distinct. (PMID: 12631712) Johansson M. … Olkkonen V.M. (Mol. Biol. Cell 2003) 23 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. Quantitative study of the interactome of PKCIP involved in the EGF-induced tumor cell chemotaxis. (PMID: 23402259) Chen R. … Zhang N. (J. Proteome Res. 2013) 67

Products for OSBPL1A Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Lipoprotein Signaling & Cholesterol Metabolism in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate OSBPL1A
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for OSBPL1A
  • Block miRNA regulation of OSBPL1A using miScript Target Protectors

Sources for OSBPL1A Gene

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