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    OSBPL9 oxysterol binding protein like 9 [ Homo sapiens (human) ]

    Gene ID: 114883, updated on 28-Oct-2024

    Summary

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    Official Symbol
    OSBPL9provided by HGNC
    Official Full Name
    oxysterol binding protein like 9provided by HGNC
    Primary source
    HGNC:HGNC:16386
    See related
    Ensembl:ENSG00000117859 MIM:606737; AllianceGenome:HGNC:16386
    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
    ORP9; ORP-9
    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. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]
    Expression
    Ubiquitous expression in kidney (RPKM 20.1), thyroid (RPKM 18.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OSBPL9 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (51518272..51789219)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (51398184..51669512)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (51983944..52254891)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene proteasome 26S subunit, non-ATPase 7 pseudogene Neighboring gene RNA, U6 small nuclear 877, pseudogene Neighboring gene epidermal growth factor receptor pathway substrate 15 Neighboring gene MPRA-validated peak220 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:51984193-51985121 Neighboring gene EPS15 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1281, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1026 Neighboring gene calreticulin 4, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:52073806-52073988 Neighboring gene uncharacterized LOC105378719 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:52082461-52083369 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:52083370-52084277 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:52087823-52089022 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:52113492-52113700 Neighboring gene small nucleolar RNA SNORA26 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:52195252-52195772 Neighboring gene solute carrier family 25 member 6 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 881 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 51 Neighboring gene Sharpr-MPRA regulatory region 3774 Neighboring gene MPRA-validated peak222 silencer Neighboring gene MPRA-validated peak223 silencer Neighboring gene nardilysin convertase Neighboring gene microRNA 761 Neighboring gene tRNA splicing endonuclease subunit 15 pseudogene 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 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 9 (ORP9) is a cholesterol transfer protein that regulates Golgi structure and function. Ngo M, et al. Mol Biol Cell, 2009 Mar. PMID 19129476, Free PMC Article
    2. MicroRNA-125a-5p partly regulates the inflammatory response, lipid uptake, and ORP9 expression in oxLDL-stimulated monocyte/macrophages. Chen T, et al. Cardiovasc Res, 2009 Jul 1. PMID 19377067
    3. Association of oxysterol binding protein-related protein 9 polymorphism with cerebral infarction in Hunan Han population. Li L, et al. Ir J Med Sci, 2014 Sep. PMID 24190612
    4. Characterization of the sterol and phosphatidylinositol 4-phosphate binding properties of Golgi-associated OSBP-related protein 9 (ORP9). Liu X, et al. PLoS One, 2014. PMID 25255026, Free PMC Article
    5. Oxysterol-binding protein-related protein (ORP) 9 is a PDK-2 substrate and regulates Akt phosphorylation. Lessmann E, et al. Cell Signal, 2007 Feb. PMID 16962287

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These studies identify ORP9 as a dual sterol/PI-4P binding protein that could regulate PI-4P in the Golgi apparatus.
      Title: Characterization of the sterol and phosphatidylinositol 4-phosphate binding properties of Golgi-associated OSBP-related protein 9 (ORP9).
    2. T allele of rs768529 may be a risk factor for the formation of the carotid vulnerable plaque in Chinese Hunan Han population
      Title: Association of oxysterol binding protein-related protein 9 polymorphism with cerebral infarction in Hunan Han population.
    3. The results identify ORP11 as an OSBP homologue distributing at the Golgi-LE interface and define the ORP9-ORP11 dimer as a functional unit that may act as an intracellular lipid sensor or transporter.
      Title: OSBP-related protein 11 (ORP11) dimerizes with ORP9 and localizes at the Golgi-late endosome interface.
    4. Includes data showing N-alpha terminal acetylation of this protein (OSBL9_HUMAN), which begins with nASIMEGPLSK following cleavage of the initiating Met-1 residue.
      Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
    5. 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.
    6. MicroRNA-125a-5p may partly provide post-transcriptional regulation of the proinflammatory response, lipid uptake, and expression of ORP9 in oxLDL-stimulated monocyte/macrophages.
      Title: MicroRNA-125a-5p partly regulates the inflammatory response, lipid uptake, and ORP9 expression in oxLDL-stimulated monocyte/macrophages.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    8. Furthermore, mammalian target of rapamycin was implicated in ORP9L phosphorylation in HEK293 cells. These studies identify ORP9 as a PDK-2 substrate and negative regulator of Akt phosphorylation at the PDK-2 site.
      Title: Oxysterol-binding protein-related protein (ORP) 9 is a PDK-2 substrate and regulates Akt phosphorylation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    • FLJ12492, FLJ14629, FLJ14801, FLJ32055, FLJ34384, MGC15035

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 sterol transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    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 9
    Names
    OSBP-related protein 9

    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_001330580.2 → NP_001317509.1  oxysterol-binding protein-related protein 9 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) contains an alternate in-frame exon compared to variant 1. The resulting isoform (g) has the same N- and C-termini and is longer compared to isoform a.
      Source sequence(s)
      AL050343
      Consensus CDS
      CCDS81322.1
      UniProtKB/TrEMBL
      B7Z4Q6
      Related
      ENSP00000433083.1, ENST00000531828.5
      Conserved Domains (1) summary
      pfam01237
      Location:212 → 558
      Oxysterol_BP; Oxysterol-binding protein

    2. NM_001350208.2 → NP_001337137.1  oxysterol-binding protein-related protein 9 isoform h

      Status: REVIEWED

      Source sequence(s)
      AF392445, AL050343, DB081133, EL953716
      UniProtKB/TrEMBL
      B7Z4Q6
      Conserved Domains (1) summary
      pfam01237
      Location:191 → 537
      Oxysterol_BP; Oxysterol-binding protein

    3. NM_001350209.2 → NP_001337138.1  oxysterol-binding protein-related protein 9 isoform h

      Status: REVIEWED

      Source sequence(s)
      AF392445, AL050343, DA754904, DB254963, EL953716
      UniProtKB/TrEMBL
      B7Z4Q6
      Conserved Domains (1) summary
      pfam01237
      Location:191 → 537
      Oxysterol_BP; Oxysterol-binding protein

    4. NM_001350210.2 → NP_001337139.1  oxysterol-binding protein-related protein 9 isoform i

      Status: REVIEWED

      Source sequence(s)
      AL050343, BC025978, DA374804, EL953716
      UniProtKB/TrEMBL
      B3KW33
      Conserved Domains (1) summary
      pfam01237
      Location:162 → 508
      Oxysterol_BP; Oxysterol-binding protein

    5. NM_001416292.1 → NP_001403221.1  oxysterol-binding protein-related protein 9 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC104170, AL050343, AL772260, AL831767

    6. NM_001416293.1 → NP_001403222.1  oxysterol-binding protein-related protein 9 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC104170, AL050343, AL772260, AL831767

    7. NM_001416294.1 → NP_001403223.1  oxysterol-binding protein-related protein 9 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC104170, AL050343, AL772260, AL831767

    8. NM_001416295.1 → NP_001403224.1  oxysterol-binding protein-related protein 9 isoform k

      Status: REVIEWED

      Source sequence(s)
      AC104170, AL050343, AL772260, AL831767
      UniProtKB/TrEMBL
      B1AKJ6
      Related
      ENSP00000360779.1, ENST00000371714.5

    9. NM_024586.6 → NP_078862.4  oxysterol-binding protein-related protein 9 isoform e

      See identical proteins and their annotated locations for NP_078862.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and includes an additional in-frame exon in its central coding region, compared to variant 1. The encoded isoform (e) has a longer and distinct N-terminus, and contains an additional internal segment, compared to isoform a. Isoform e contains both a pleckstrin homology domain and a sterol-binding domain.
      Source sequence(s)
      AF392445, AL050343, DB081133, EL953716
      Consensus CDS
      CCDS41332.3
      UniProtKB/Swiss-Prot
      B1AKJ8, B3KPQ4, D3DQ31, Q5TFC0, Q6IA67, Q86YQ3, Q8NB17, Q8TAS8, Q96SK4, Q96SU4, Q9H9X2
      UniProtKB/TrEMBL
      B7Z4Q6
      Related
      ENSP00000407168.1, ENST00000428468.6
      Conserved Domains (2) summary
      cd13290
      Location:5 → 106
      PH_ORP9; Human Oxysterol binding protein related protein 9 Pleckstrin homology (PH) domain
      pfam01237
      Location:377 → 723
      Oxysterol_BP; Oxysterol-binding protein

    10. NM_148904.4 → NP_683702.1  oxysterol-binding protein-related protein 9 isoform a

      See identical proteins and their annotated locations for NP_683702.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shortest isoform (a), which contains a sterol-binding domain, but not a pleckstrin homology domain. Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AL050343, BC025978, BQ230093, EL953716
      Consensus CDS
      CCDS41334.1
      UniProtKB/TrEMBL
      B7Z4Q6
      Related
      ENSP00000433279.1, ENST00000462759.5
      Conserved Domains (1) summary
      pfam01237
      Location:199 → 545
      Oxysterol_BP; Oxysterol-binding protein

    11. NM_148905.4 → NP_683703.1  oxysterol-binding protein-related protein 9 isoform a

      See identical proteins and their annotated locations for NP_683703.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a), which contains a sterol-binding domain, but not a pleckstrin homology domain.
      Source sequence(s)
      AK022554, AL050343, BQ230093, EL953716
      Consensus CDS
      CCDS41334.1
      UniProtKB/TrEMBL
      B7Z4Q6
      Related
      ENSP00000431980.1, ENST00000486942.5
      Conserved Domains (1) summary
      pfam01237
      Location:199 → 545
      Oxysterol_BP; Oxysterol-binding protein

    12. NM_148906.3 → NP_683704.2  oxysterol-binding protein-related protein 9 isoform b

      See identical proteins and their annotated locations for NP_683704.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and includes an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) has a longer and distinct N-terminus, compared to isoform a. Isoform b contains both a pleckstrin homology domain and a sterol-binding domain.
      Source sequence(s)
      AL050343, AY178997, DB081133, EL953716
      Consensus CDS
      CCDS41333.2
      UniProtKB/TrEMBL
      B7Z4Q6
      Related
      ENSP00000413263.1, ENST00000453295.5
      Conserved Domains (2) summary
      pfam01237
      Location:360 → 706
      Oxysterol_BP; Oxysterol-binding protein
      cl17171
      Location:5 → 89
      PH-like; Pleckstrin homology-like domain

    13. NM_148907.3 → NP_683705.1  oxysterol-binding protein-related protein 9 isoform c

      See identical proteins and their annotated locations for NP_683705.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' exon, differs in the 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (c) has a longer and distinct N-terminus, compared to isoform a. Isoform c contains a sterol-binding domain, but not a pleckstrin homology domain.
      Source sequence(s)
      AK027707, AL050343, BQ230093, EL953716
      Consensus CDS
      CCDS558.1
      UniProtKB/TrEMBL
      B7Z4Q6
      Related
      ENSP00000354970.5, ENST00000361556.9
      Conserved Domains (1) summary
      pfam01237
      Location:267 → 613
      Oxysterol_BP; Oxysterol-binding protein

    14. NM_148908.4 → NP_683706.3  oxysterol-binding protein-related protein 9 isoform d

      See identical proteins and their annotated locations for NP_683706.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (d) has a longer and distinct N-terminus, compared to isoform a. Isoform d contains both a pleckstrin homology domain and a sterol-binding domain.
      Source sequence(s)
      AK027535, AL050343, DB081133, EL953716
      Consensus CDS
      CCDS55598.1
      UniProtKB/TrEMBL
      B7Z4Q6
      Conserved Domains (2) summary
      cd13290
      Location:5 → 106
      PH_ORP9; Human Oxysterol binding protein related protein 9 Pleckstrin homology (PH) domain
      pfam01237
      Location:364 → 710
      Oxysterol_BP; Oxysterol-binding protein

    15. NM_148909.4 → NP_683707.3  oxysterol-binding protein-related protein 9 isoform f

      See identical proteins and their annotated locations for NP_683707.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (f) has a longer and distinct N-terminus, compared to isoform a. Isoform f contains both a pleckstrin homology domain and a sterol-binding domain.
      Source sequence(s)
      AK056617, AL050343, EL953716
      Consensus CDS
      CCDS44145.1
      UniProtKB/TrEMBL
      B7Z4Q6
      Related
      ENSP00000412733.1, ENST00000447887.5
      Conserved Domains (2) summary
      cd13290
      Location:5 → 106
      PH_ORP9; Human Oxysterol binding protein related protein 9 Pleckstrin homology (PH) domain
      pfam01237
      Location:387 → 733
      Oxysterol_BP; Oxysterol-binding protein

    RNA

    1. NR_036662.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains different exon structure in the 5' region and includes an additional alternate exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variants 3, 5, 6 and 7, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK091703, AL050343, EL953716

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      51518272..51789219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      51398184..51669512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SU4.2 GenPept UniProtKB/Swiss-Prot:Q96SU4

    Gene LinkOut

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

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