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

    Gene ID: 114876, updated on 10-Dec-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
    mouse all
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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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. 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
    5. Cholesterol and ORP1L-mediated ER contact sites control autophagosome transport and fusion with the endocytic pathway. Wijdeven RH, et al. Nat Commun, 2016 Jun 10. PMID 27283760, Free PMC Article

    See all (58) 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

      UniProtKB/TrEMBL
      B2RB91

    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

      UniProtKB/TrEMBL
      B7ZLX8

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

      UniProtKB/TrEMBL
      B2RB91

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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