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

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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).
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S231 (e-PCR), detects polymorphism
- UniSTS:43035

SHGC-74825 (e-PCR)
- UniSTS:44346

RH11811 (e-PCR)
- UniSTS:80221

RH44964 (e-PCR)
- UniSTS:89982

SHGC-35117 (e-PCR)
- UniSTS:28569

HSC20B072 (e-PCR)
- UniSTS:75940

D1S231 (e-PCR), detects polymorphism
- UniSTS:60580

SHGC-80950 (e-PCR)
- UniSTS:102583

SHGC-74833 (e-PCR)
- UniSTS:70079

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)

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

Status: REVIEWED

Source sequence(s)

AC104170, AL050343, AL772260, AL831767

UniProtKB/TrEMBL

B7Z4Q6
NM_001416293.1 → NP_001403222.1 oxysterol-binding protein-related protein 9 isoform j

Status: REVIEWED

Source sequence(s)

AC104170, AL050343, AL772260, AL831767

UniProtKB/TrEMBL

B7Z4Q6
NM_001416294.1 → NP_001403223.1 oxysterol-binding protein-related protein 9 isoform j

Status: REVIEWED

Source sequence(s)

AC104170, AL050343, AL772260, AL831767

UniProtKB/TrEMBL

B7Z4Q6
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, B7Z4Q6

Related

ENSP00000360779.1, ENST00000371714.5
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
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
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
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
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
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
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

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