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    OSBPL10 oxysterol binding protein like 10 [ Homo sapiens (human) ]

    Gene ID: 114884, updated on 11-Apr-2024

    Summary

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    Official Symbol
    OSBPL10provided by HGNC
    Official Full Name
    oxysterol binding protein like 10provided by HGNC
    Primary source
    HGNC:HGNC:16395
    See related
    Ensembl:ENSG00000144645 MIM:606738; AllianceGenome:HGNC:16395
    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
    ORP10; OSBP9
    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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
    Expression
    Broad expression in testis (RPKM 5.3), placenta (RPKM 5.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3p23-p22.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (31660825..32077692, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (31663279..32074807, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (31702317..32022754, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4459 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69494 Neighboring gene THRAP3 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:31568343-31568843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:31577091-31577590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:31576589-31577090 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69540 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69549 Neighboring gene STT3 oligosaccharyltransferase complex catalytic subunit B Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69593 Neighboring gene NANOG hESC enhancer GRCh37_chr3:31720020-31720521 Neighboring gene uncharacterized LOC124909360 Neighboring gene OSBPL10 antisense RNA 1 Neighboring gene zinc finger protein 587 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:31938297-31938798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:31987818-31988420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:31988421-31989022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14164 Neighboring gene small nucleolar RNA SNORA25 Neighboring gene zinc finger protein 860 Neighboring gene ribosomal protein L21 pseudogene 40 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:32139776-32139875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14166 Neighboring gene NIFK pseudogene 7 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69674 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69731 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:32189275-32189888 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:32210835-32211492 Neighboring gene small nucleolar RNA U13 Neighboring gene glycerol-3-phosphate dehydrogenase 1 like Neighboring gene ribosomal protein L21 pseudogene 137

    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. PI4P/PS countertransport by ORP10 at ER-endosome membrane contact sites regulates endosome fission. Kawasaki A, et al. J Cell Biol, 2022 Jan 3. PMID 34817532, Free PMC Article
    2. Circular RNA profile identifies circOSBPL10 as an oncogenic factor and prognostic marker in gastric cancer. Wang S, et al. Oncogene, 2019 Oct. PMID 31409903
    3. Variation in OSBPL10 is associated with dyslipidemia. Koriyama H, et al. Hypertens Res, 2010 May. PMID 20224571
    4. Is the gene-environment interaction paradigm relevant to genome-wide studies? The case of education and body mass index. Boardman JD, et al. Demography, 2014 Feb. PMID 24281739, Free PMC Article
    5. Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population. Koriyama H, et al. J Atheroscler Thromb, 2010 Oct 27. PMID 20610895

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PI4P/PS countertransport by ORP10 at ER-endosome membrane contact sites regulates endosome fission.
      Title: PI4P/PS countertransport by ORP10 at ER-endosome membrane contact sites regulates endosome fission.
    2. findings reveal that circOSBPL10 may serve as a new proliferation factor and prognostic marker in gastric cancer
      Title: Circular RNA profile identifies circOSBPL10 as an oncogenic factor and prognostic marker in gastric cancer.
    3. Data indicate that the apoB-100 secretion phenotype is replicated in HepG2 cells transduced with the ORP10 shRNA lentiviruses.
      Title: ORP10, a cholesterol binding protein associated with microtubules, regulates apolipoprotein B-100 secretion.
    4. Single-nucleotide polymorphisms in OSBPL10 is associated with peripheral arterial disease.
      Title: Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population.
    5. Overall, the rs2290532 (D254N) polymorphism in OSBPL10 may predispose individuals to hyper-LDL cholesterolemia.
      Title: Variation in OSBPL10 is associated with dyslipidemia.
    6. 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.
    7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population.
    8. Analysis of variants in three genes encoding OSBP homologues in families with familial low high-density lipoprotein levels or familial combined hyperlipidemia revealed linkage of OSBPL10 single-nucleotide polymorphisms with high triglyceride trait.
      Title: OSBPL10, a novel candidate gene for high triglyceride trait in dyslipidemic Finnish subjects, regulates cellular lipid metabolism.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: OSBPL10, a novel candidate gene for high triglyceride trait in dyslipidemic Finnish subjects, regulates cellular lipid metabolism.
    Submit: New GeneRIF Correction

    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
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    EBI GWAS Catalog
    Identification of evidence suggestive of an association with peripheral arterial disease at the OSBPL10 locus by genome-wide investigation in the Japanese population.
    EBI GWAS Catalog
    Is the gene-environment interaction paradigm relevant to genome-wide studies? The case of education and body mass index.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20363

    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 phosphatidylserine binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phospholipid transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphatidylserine acyl-chain remodeling TAS
    Traceable Author Statement
    more info
    		  
    involved_in phospholipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    oxysterol-binding protein-related protein 10
    Names
    ORP-10
    OSBP-related protein 10

    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_001174060.2 → NP_001167531.1  oxysterol-binding protein-related protein 10 isoform 2

      See identical proteins and their annotated locations for NP_001167531.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK304067, BC003168
      Consensus CDS
      CCDS54559.1
      UniProtKB/TrEMBL
      B3KUL5
      Related
      ENSP00000406124.2, ENST00000438237.6
      Conserved Domains (3) summary
      cd13291
      Location:77 → 179
      PH_ORP10_ORP11; Human Oxysterol binding protein (OSBP) related proteins 10 and 11 (ORP10 and ORP11) Pleckstrin homology (PH) domain
      pfam00169
      Location:78 → 171
      PH; PH domain
      pfam01237
      Location:338 → 692
      Oxysterol_BP; Oxysterol-binding protein

    2. NM_017784.5 → NP_060254.2  oxysterol-binding protein-related protein 10 isoform 1

      See identical proteins and their annotated locations for NP_060254.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK000370, BC003168, DC377079
      Consensus CDS
      CCDS2651.1
      UniProtKB/Swiss-Prot
      B4E212, Q9BTU5, Q9BXB5
      UniProtKB/TrEMBL
      B3KUL5
      Related
      ENSP00000379804.2, ENST00000396556.7
      Conserved Domains (3) summary
      cd13291
      Location:77 → 183
      PH_ORP10_ORP11; Human Oxysterol binding protein (OSBP) related proteins 10 and 11 (ORP10 and ORP11) Pleckstrin homology (PH) domain
      pfam00169
      Location:78 → 171
      PH; PH domain
      pfam01237
      Location:402 → 756
      Oxysterol_BP; Oxysterol-binding protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      31660825..32077692 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447390.1 → XP_047303346.1  oxysterol-binding protein-related protein 10 isoform X7

    2. XM_047447386.1 → XP_047303342.1  oxysterol-binding protein-related protein 10 isoform X4

    3. XM_047447391.1 → XP_047303347.1  oxysterol-binding protein-related protein 10 isoform X8

    4. XM_047447395.1 → XP_047303351.1  oxysterol-binding protein-related protein 10 isoform X10

    5. XM_047447394.1 → XP_047303350.1  oxysterol-binding protein-related protein 10 isoform X8

    6. XM_005264845.2 → XP_005264902.1  oxysterol-binding protein-related protein 10 isoform X12

      Conserved Domains (1) summary
      pfam01237
      Location:66 → 420
      Oxysterol_BP; Oxysterol-binding protein

    7. XM_047447389.1 → XP_047303345.1  oxysterol-binding protein-related protein 10 isoform X6

    8. XM_047447385.1 → XP_047303341.1  oxysterol-binding protein-related protein 10 isoform X3

    9. XM_005264844.6 → XP_005264901.1  oxysterol-binding protein-related protein 10 isoform X2

      UniProtKB/TrEMBL
      B3KUL5
      Conserved Domains (3) summary
      cd13291
      Location:77 → 179
      PH_ORP10_ORP11; Human Oxysterol binding protein (OSBP) related proteins 10 and 11 (ORP10 and ORP11) Pleckstrin homology (PH) domain
      pfam00169
      Location:78 → 171
      PH; PH domain
      pfam01237
      Location:338 → 686
      Oxysterol_BP; Oxysterol-binding protein

    10. XM_005264843.5 → XP_005264900.1  oxysterol-binding protein-related protein 10 isoform X1

      UniProtKB/TrEMBL
      B3KUL5
      Conserved Domains (3) summary
      cd13291
      Location:77 → 183
      PH_ORP10_ORP11; Human Oxysterol binding protein (OSBP) related proteins 10 and 11 (ORP10 and ORP11) Pleckstrin homology (PH) domain
      pfam00169
      Location:78 → 171
      PH; PH domain
      pfam01237
      Location:402 → 750
      Oxysterol_BP; Oxysterol-binding protein

    11. XM_047447388.1 → XP_047303344.1  oxysterol-binding protein-related protein 10 isoform X5

    12. XM_047447387.1 → XP_047303343.1  oxysterol-binding protein-related protein 10 isoform X5

    13. XM_047447392.1 → XP_047303348.1  oxysterol-binding protein-related protein 10 isoform X9

    14. XM_047447393.1 → XP_047303349.1  oxysterol-binding protein-related protein 10 isoform X9

      Related
      ENSP00000416078.2, ENST00000429492.6

    15. XM_017005670.3 → XP_016861159.1  oxysterol-binding protein-related protein 10 isoform X11

      UniProtKB/TrEMBL
      Q59ED9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      31663279..32074807 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345127.1 → XP_054201102.1  oxysterol-binding protein-related protein 10 isoform X7

    2. XM_054345123.1 → XP_054201098.1  oxysterol-binding protein-related protein 10 isoform X4

    3. XM_054345128.1 → XP_054201103.1  oxysterol-binding protein-related protein 10 isoform X8

    4. XM_054345131.1 → XP_054201106.1  oxysterol-binding protein-related protein 10 isoform X10

    5. XM_054345130.1 → XP_054201105.1  oxysterol-binding protein-related protein 10 isoform X8

    6. XM_054345133.1 → XP_054201108.1  oxysterol-binding protein-related protein 10 isoform X12

    7. XM_054345126.1 → XP_054201101.1  oxysterol-binding protein-related protein 10 isoform X6

    8. XM_054345122.1 → XP_054201097.1  oxysterol-binding protein-related protein 10 isoform X3

    9. XM_054345121.1 → XP_054201096.1  oxysterol-binding protein-related protein 10 isoform X2

    10. XM_054345120.1 → XP_054201095.1  oxysterol-binding protein-related protein 10 isoform X1

    11. XM_054345124.1 → XP_054201099.1  oxysterol-binding protein-related protein 10 isoform X5

    12. XM_054345125.1 → XP_054201100.1  oxysterol-binding protein-related protein 10 isoform X5

    13. XM_054345129.1 → XP_054201104.1  oxysterol-binding protein-related protein 10 isoform X9

    14. XM_054345132.1 → XP_054201107.1  oxysterol-binding protein-related protein 10 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXB5.2 GenPept UniProtKB/Swiss-Prot:Q9BXB5

    Gene LinkOut

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

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