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    OSBPL7 oxysterol binding protein like 7 [ Homo sapiens (human) ]

    Gene ID: 114881, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OSBPL7provided by HGNC
    Official Full Name
    oxysterol binding protein like 7provided by HGNC
    Primary source
    HGNC:HGNC:16387
    See related
    Ensembl:ENSG00000006025 MIM:606735; AllianceGenome:HGNC:16387
    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
    ORP7
    Summary
    This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in stomach (RPKM 18.4), duodenum (RPKM 12.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OSBPL7 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (47807372..47821794, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48669144..48683591, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45884738..45899160, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:45771282-45771962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45771963-45772642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45772643-45773323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8638 Neighboring gene TBK1 binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45791473-45791974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45791975-45792474 Neighboring gene TBX21 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12316 Neighboring gene T-box transcription factor 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45855331-45855844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45866576-45867378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45867379-45868179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45885766-45886266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45886267-45886767 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:45899123-45899338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45907489-45908320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45908321-45909150 Neighboring gene mitochondrial ribosomal protein L10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45914101-45914648 Neighboring gene leucine rich repeat containing 46 Neighboring gene secernin 2

    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. Expression of oxysterol binding protein isoforms in opisthorchiasis-associated cholangiocarcinoma: a potential molecular marker for tumor metastasis. Loilome W, et al. Parasitol Int, 2012 Mar. PMID 21763455
    2. OSBP-related protein 7 interacts with GATE-16 and negatively regulates GS28 protein stability. Zhong W, et al. Exp Cell Res, 2011 Oct 1. PMID 21669198
    3. Subfamily III of mammalian oxysterol-binding protein (OSBP) homologues: the expression and intracellular localization of ORP3, ORP6, and ORP7. Lehto M, et al. Cell Tissue Res, 2004 Jan. PMID 14593528
    4. The OSBP-related protein family in humans. Lehto M, et al. J Lipid Res, 2001 Aug. PMID 11483621
    5. A family of 12 human genes containing oxysterol-binding domains. Jaworski CJ, et al. Genomics, 2001 Dec. PMID 11735225

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In preliminary results, significantly higher levels of OSBP2 and OSBPL-7 mRNA were seen in blood samples from cholangiocarcinoma patients than in healthy controls.
      Title: Expression of oxysterol binding protein isoforms in opisthorchiasis-associated cholangiocarcinoma: a potential molecular marker for tumor metastasis.
    2. ORP7 negatively regulates GS28 protein stability via sequestration of GATE-16, and may mediate the effect of 25-OH on GS28 and Golgi function.
      Title: OSBP-related protein 7 interacts with GATE-16 and negatively regulates GS28 protein stability.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    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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    Replication interactions

    Interaction Pubs
    Knockdown of oxysterol binding protein-like 7 (OSBPL7) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC71150

    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 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 cellular response to cholesterol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of autophagy NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in sterol transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in autophagosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nuclear membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in perinuclear endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    oxysterol-binding protein-related protein 7
    Names
    ORP-7
    OSBP-related protein 7

    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.

    mRNA and Protein(s)

    1. NM_145798.3 → NP_665741.1  oxysterol-binding protein-related protein 7

      See identical proteins and their annotated locations for NP_665741.1

      Status: REVIEWED

      Source sequence(s)
      AC003665, AF392446, BC065482, BM674891
      Consensus CDS
      CCDS11515.1
      UniProtKB/Swiss-Prot
      D3DTT6, Q6PIV6, Q9BZF2
      UniProtKB/TrEMBL
      Q8WXP9
      Related
      ENSP00000007414.3, ENST00000007414.8
      Conserved Domains (3) summary
      cd13287
      Location:27 → 149
      PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
      pfam00169
      Location:51 → 139
      PH; PH domain
      pfam01237
      Location:478 → 819
      Oxysterol_BP; Oxysterol-binding protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      47807372..47821794 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435293.1 → XP_047291249.1  oxysterol-binding protein-related protein 7 isoform X2

      UniProtKB/TrEMBL
      Q8WXP9

    2. XM_047435292.1 → XP_047291248.1  oxysterol-binding protein-related protein 7 isoform X1

      UniProtKB/Swiss-Prot
      D3DTT6, Q6PIV6, Q9BZF2
      UniProtKB/TrEMBL
      Q8WXP9

    RNA

    1. XR_934362.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      48669144..48683591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314946.1 → XP_054170921.1  oxysterol-binding protein-related protein 7 isoform X1

      UniProtKB/Swiss-Prot
      D3DTT6, Q6PIV6, Q9BZF2
      UniProtKB/TrEMBL
      Q8WXP9

    RNA

    1. XR_008484778.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017731.4: Suppressed sequence

      Description
      NM_017731.4: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZF2.1 GenPept UniProtKB/Swiss-Prot:Q9BZF2

    Gene LinkOut

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

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