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

    Gene ID: 114876, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001242508.1NP_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:166552
      Oxysterol_BP; Oxysterol-binding protein
    2. NM_018030.4NP_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:35421
      Oxysterol_BP; Oxysterol-binding protein
    3. NM_080597.4NP_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:43196
      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:229352
      PH_ORP1; Human Oxysterol binding protein related protein 1 Pleckstrin homology (PH) domain
      pfam01237
      Location:548934
      Oxysterol_BP; Oxysterol-binding protein
      pfam12796
      Location:10111
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:160216
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:4378
      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_017025530.2XP_016881019.1  oxysterol-binding protein-related protein 1 isoform X2

      UniProtKB/TrEMBL
      B7ZLX8
    2. XM_047437287.1XP_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_054318172.1XP_054174147.1  oxysterol-binding protein-related protein 1 isoform X2

      UniProtKB/TrEMBL
      B7ZLX8
    2. XM_054318171.1XP_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.