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OSBPL1A oxysterol binding protein like 1A [ Homo sapiens (human) ]

Gene ID: 114876, updated on 27-Nov-2024

Summary

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Official Symbol
OSBPL1Aprovided by HGNC
Official Full Name
oxysterol binding protein like 1Aprovided by HGNC
Primary source
HGNC:HGNC:16398
See related
Ensembl:ENSG00000141447 MIM:606730; AllianceGenome:HGNC:16398
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ORP1; ORP-1; OSBPL1B
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 18.5), fat (RPKM 17.7) and 24 other tissues See more
Orthologs
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Genomic context

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See OSBPL1A in Genome Data Viewer
Location:
18q11.2
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (24162045..24397824, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (24356384..24592191, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (21742009..21977788, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 39C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13171 Neighboring gene RNA, U5A small nuclear 6, pseudogene Neighboring gene calcium binding tyrosine phosphorylation regulated Neighboring gene Sharpr-MPRA regulatory region 1293 Neighboring gene RNA, 5S ribosomal pseudogene 452 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21776521-21777022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:21777023-21777522 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:21791138-21791312 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:21794009-21794579 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:21813593-21814202 Neighboring gene RNA, U6 small nuclear 435, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr18:21854103-21854316 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:21880854-21881027 Neighboring gene MPRA-validated peak3073 silencer Neighboring gene uncharacterized LOC124904267 Neighboring gene microRNA 320c-2 Neighboring gene uncharacterized LOC124904268 Neighboring gene Sharpr-MPRA regulatory region 8214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:21964078-21964578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:21964579-21965079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9364 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:22005698-22006612 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:22006613-22007527 Neighboring gene MPRA-validated peak3074 silencer Neighboring gene impact RWD domain protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:22052464-22052964 Neighboring gene histamine receptor H4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Oxysterol-binding protein-related protein 1 variants have opposing cholesterol transport activities from the endolysosomes. Zhao K, et al. Mol Biol Cell, 2020 Apr 1. PMID 32023146, Free PMC Article
  2. Oxysterol-Binding Protein-Related Protein 1L Regulates Cholesterol Egress from the Endo-Lysosomal System. Zhao K, et al. Cell Rep, 2017 May 30. PMID 28564600
  3. A single nucleotide polymorphism located in microRNA-499a causes loss of function resulting in increased expression of osbpl1a and reduced serum HDL level. Chen LB, et al. Oncol Rep, 2017 Dec. PMID 29039586
  4. The two variants of oxysterol binding protein-related protein-1 display different tissue expression patterns, have different intracellular localization, and are functionally distinct. Johansson M, et al. Mol Biol Cell, 2003 Mar. PMID 12631712, Free PMC Article
  5. Interactions between the Coxiella burnetii parasitophorous vacuole and the endoplasmic reticulum involve the host protein ORP1L. Justis AV, et al. Cell Microbiol, 2017 Jan. PMID 27345457, Free PMC Article

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Host Lipid Transport Protein ORP1 Is Necessary for Coxiella burnetii Growth and Vacuole Expansion in Macrophages.
    Title: Host Lipid Transport Protein ORP1 Is Necessary for Coxiella burnetii Growth and Vacuole Expansion in Macrophages.
  2. ORP1L mediated PI(4)P signaling at ER-lysosome-mitochondrion three-way contact contributes to mitochondrial division.
    Title: ORP1L mediated PI(4)P signaling at ER-lysosome-mitochondrion three-way contact contributes to mitochondrial division.
  3. Oxysterol-binding protein-related protein 1 variants have opposing cholesterol transport activities from the endolysosomes.
    Title: Oxysterol-binding protein-related protein 1 variants have opposing cholesterol transport activities from the endolysosomes.
  4. ORP1 is a unique sensor of lysosomal phosphatidylinosito-bisphosphates, and that PI(4,5)P2/PI(3,4)P2 allosterically regulates cholesterol transport by ORP1.
    Title: Allosteric enhancement of ORP1-mediated cholesterol transport by PI(4,5)P(2)/PI(3,4)P(2).
  5. structural and biochemical investigation of the Rab7-ORP1L interaction
    Title: A non-canonical GTPase interaction enables ORP1L-Rab7-RILP complex formation and late endosome positioning.
  6. ORP1L, via its liganding by lipids and the formation of contacts between autophagic vacuoles and the endoplasmic reticulum, governs the last steps in autophagy that lead to the lysosomal degradation of cytosolic material.
    Title: Cholesterol and ORP1L-mediated ER contact sites control autophagosome transport and fusion with the endocytic pathway.
  7. This study validated that rs3746444 polymorphism influenced the expression of miR499a, its target gene, osbpl1a, and thereby associated with the HDL level, which makes it a potential factor involved in the mechanism of atherosclerosis.
    Title: A single nucleotide polymorphism located in microRNA-499a causes loss of function resulting in increased expression of osbpl1a and reduced serum HDL level.
  8. ORP1L-dependent membrane contacts between late endosomes/lysosomes and the endoplasmic reticulum coordinate cholesterol transfer with the retrograde movement of endo-lysosomal vesicles.
    Title: Oxysterol-Binding Protein-Related Protein 1L Regulates Cholesterol Egress from the Endo-Lysosomal System.
  9. a familial loss-of-function mutation in OSBPL1A affects the first step of the reverse cholesterol transport process and associates with a low HDL-C phenotype
    Title: A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity.
  10. These data suggest that ORP1L is specifically recruited by the bacteria to the Coxiella parasitophorous vacuole, where it influences parasitophorous vacuole membrane dynamics and interactions with the endoplasmic reticulum.
    Title: Interactions between the Coxiella burnetii parasitophorous vacuole and the endoplasmic reticulum involve the host protein ORP1L.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of oxysterol binding protein-like 1A (OSBPL1A) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10217

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cholesterol binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phospholipid binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sterol transfer activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in bile acid biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in cholesterol metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in sterol transport IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle-mediated transport NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in late endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in organelle membrane contact site IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in perinuclear endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
oxysterol-binding protein-related protein 1
Names
OSBP-related protein 1
oxysterol binding protein-like 1B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029432.1 RefSeqGene

    Range
    5046..240818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242508.1 → NP_001229437.1  oxysterol-binding protein-related protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001229437.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as OSBPL1C) lacks multiple exons from the 5' end and has an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 2. The resulting isoform (3, also known as C) has a shorter N-terminus, and it lacks ankyrin repeats and the pleckstrin homology domain, but contains the sterol-binding domain, compared to isoform 2.
    Source sequence(s)
    AF274714, AK301862
    Consensus CDS
    CCDS56056.1
    UniProtKB/TrEMBL
    Q6DKJ0
    Related
    ENSP00000349545.4, ENST00000357041.8
    Conserved Domains (1) summary
    pfam01237
    Location:166 → 552
    Oxysterol_BP; Oxysterol-binding protein

  2. NM_018030.4 → NP_060500.3  oxysterol-binding protein-related protein 1 isoform 1

    See identical proteins and their annotated locations for NP_060500.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as ORP1S or OSBPL1A) lacks multiple exons from the 5' end and has an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 2. The resulting isoform (1, also known as A) is the shortest. It lacks N-terminal ankyrin repeats and the pleckstrin homology domain, but contains the C-terminal sterol-binding domain, compared to isoform 2. Isoform 1 can bind to phospholipids but not to 25-hydroxycholesterol. It localizes to the cytosol and may function in the regulation of vesicle transport. Unlike the widespread expression of variant 2, the expression of this variant (1) appears to be limited to brain, retina, and retinal pigment epithelium/choroid tissue.
    Source sequence(s)
    AF274714
    Consensus CDS
    CCDS11885.1
    UniProtKB/TrEMBL
    B2RB91, Q6GSK5
    Related
    ENSP00000382372.3, ENST00000399443.7
    Conserved Domains (1) summary
    pfam01237
    Location:35 → 421
    Oxysterol_BP; Oxysterol-binding protein

  3. NM_080597.4 → NP_542164.2  oxysterol-binding protein-related protein 1 isoform 2

    See identical proteins and their annotated locations for NP_542164.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as ORP1L or OSBPL1B) encodes the longest isoform (2, also known as B). Isoform 2 contains three ankyrin repeats, a pleckstrin homology domain and a sterol-binding domain. Unlike the tissue-specific expression of variant 1, this variant is widely expressed.
    Source sequence(s)
    AF274714, AK096358, BC136452
    Consensus CDS
    CCDS11884.1
    UniProtKB/Swiss-Prot
    B7Z7D3, Q9BXW6, Q9BZF5, Q9NW87
    UniProtKB/TrEMBL
    B0YJ56, B7ZLX8
    Related
    ENSP00000320291.3, ENST00000319481.8
    Conserved Domains (6) summary
    cd00204
    Location:43 → 196
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13285
    Location:229 → 352
    PH_ORP1; Human Oxysterol binding protein related protein 1 Pleckstrin homology (PH) domain
    pfam01237
    Location:548 → 934
    Oxysterol_BP; Oxysterol-binding protein
    pfam12796
    Location:10 → 111
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:160 → 216
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:43 → 78
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    24162045..24397824 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025530.2 → XP_016881019.1  oxysterol-binding protein-related protein 1 isoform X2

    UniProtKB/TrEMBL
    B7ZLX8

  2. XM_047437287.1 → XP_047293243.1  oxysterol-binding protein-related protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    24356384..24592191 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318172.1 → XP_054174147.1  oxysterol-binding protein-related protein 1 isoform X2

  2. XM_054318171.1 → XP_054174146.1  oxysterol-binding protein-related protein 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_133268.1: Suppressed sequence

    Description
    NM_133268.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BXW6.2 GenPept UniProtKB/Swiss-Prot:Q9BXW6

Gene LinkOut

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