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

Gene ID: 114883, updated on 11-Apr-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
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Genomic context

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Location:
1p32.3
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (51518272..51789219)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (51398184..51669512)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (52082764..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
  • 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. 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
  2. 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
  3. 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
  4. 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
  5. OSBP-related protein 11 (ORP11) dimerizes with ORP9 and localizes at the Golgi-late endosome interface. Zhou Y, et al. Exp Cell Res, 2010 Nov 15. PMID 20599956

See all (57) 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
  
Process Evidence Code Pubs
involved_in bile acid biosynthetic process TAS
Traceable Author Statement
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_2023_10

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

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