OSBPL8 oxysterol binding protein like 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSBPL8provided by HGNC
Official Full Name: oxysterol binding protein like 8provided by HGNC
Primary source: HGNC:HGNC:16396
See related: Ensembl:ENSG00000091039 MIM:606736; AllianceGenome:HGNC:16396
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: ORP8; MST120; OSBP10; MSTP120
Summary: This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression: Ubiquitous expression in kidney (RPKM 16.1), lymph node (RPKM 15.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.2

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (76351797..76559771, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (76329717..76537711, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (76745577..76953551, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ORP8 induces apoptosis by releasing cytochrome c from mitochondria in nonsmall cell lung cancer.
Title: ORP8 induces apoptosis by releasing cytochrome c from mitochondria in non‑small cell lung cancer.
ORP5/8 recruitment to the plasma membrane occurs through interactions with the N-terminal Pleckstrin homology domains and adjacent basic residues of ORP5/8 with both phosphatidylinositol 4-phosphate and Phosphatidylinositol 4,5-bisphosphate.
Title: PI(4,5)P(2) controls plasma membrane PI4P and PS levels via ORP5/8 recruitment to ER-PM contact sites.
ORP5/8 regulate Ca(2+) signaling at specific membrane contact sites foci.
Title: Oxysterol-binding protein related-proteins (ORPs) 5 and 8 regulate calcium signaling at specific cell compartments.
Examination of a series of deletion constructs demonstrated that both the N-terminal polybasic region and the PH domain are required for proper targeting of the short splice variant ORP8S to the PM-ER contact site in Chinese hamster ovary cells.
Title: Both the PH domain and N-terminal region of oxysterol-binding protein related protein 8S are required for localization to PM-ER contact sites.
ORP5/8 are endoplasmic reticulum (ER) membrane proteins implicated in lipid trafficking that localize to ER-plasma membrane (PM) contacts and maintain membrane homeostasis. Here the authors show that PtdIns(4,5)P 2 plays a critical role in the targeting and function of ORP5/8 at the PM.
Title: ORP5 and ORP8 bind phosphatidylinositol-4, 5-biphosphate (PtdIns(4,5)P (2)) and regulate its level at the plasma membrane.
we found that overexpression of ORP8 significantly inhibits GC cell proliferation and implanted tumor growth in vivo. Induction of ER stress, inhibition of Wnt signaling, and apoptotic cell death are involved in ORP8-induced inhibition of GC cell proliferation.
Title: Oxysterol-Binding Protein-Related Protein 8 Inhibits Gastric Cancer Growth Through Induction of ER Stress, Inhibition of Wnt Signaling, and Activation of Apoptosis.
mammalian ORP5 and ORP8 proteins localize to ER-mitochondrial MCS, in addition to ER-PM contact sites.
Title: ORP5/ORP8 localize to endoplasmic reticulum-mitochondria contacts and are involved in mitochondrial function.
the present study suggests that ORP8 may mediate the cytotoxicity of 25-hydroxycholesterol.
Title: Oxysterol binding protein-related protein 8 mediates the cytotoxicity of 25-hydroxycholesterol.
ORP5 and ORP8 could mediate PI4P/phosphatidylserine (PS) countertransport between the endoplasmic reticulum (ER) and the plasma membrane (PM), thus delivering PI4P to the ER-localized PI4P phosphatase Sac1 for degradation and PS from the ER to the PM.
Title: INTRACELLULAR TRANSPORT. PI4P/phosphatidylserine countertransport at ORP5- and ORP8-mediated ER-plasma membrane contacts.
role of ORP8 in Fas translocation to the plasma membrane and its down-regulation by miR-143 offer a putative mechanistic explanation for HCC resistance to apoptosis
Title: Oxysterol-binding protein-related protein 8 (ORP8) increases sensitivity of hepatocellular carcinoma cells to Fas-mediated apoptosis.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with OSBPL8	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

RH93610 (e-PCR)
- UniSTS:89933

A008I27 (e-PCR)
- UniSTS:3419

OSBPL8__5792 (e-PCR)
- UniSTS:463754

RH68111 (e-PCR)
- UniSTS:27294

D12S1061 (e-PCR)
- UniSTS:21206

D12S1458 (e-PCR)
- UniSTS:79338

WI-17709 (e-PCR)
- UniSTS:8433

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 phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylserine binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylserine transfer activity	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 fat cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of sequestering of triglyceride	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylserine acyl-chain remodeling	TAS Traceable Author Statement more info
involved_in phospholipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of D-glucose import	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to nuclear pore	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cortical endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: oxysterol-binding protein-related protein 8

Names: OSBP-related protein 8

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_001003712.2 → NP_001003712.1 oxysterol-binding protein-related protein 8 isoform b

See identical proteins and their annotated locations for NP_001003712.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AF323730, AF392452, BX647211

Consensus CDS

CCDS41814.1

UniProtKB/TrEMBL

Q5HYM3

Related

ENSP00000376940.4, ENST00000393250.8

Conserved Domains (2) summary

cd13286
Location:100 → 229

PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

pfam01237
Location:365 → 702

Oxysterol_BP; Oxysterol-binding protein
NM_001319652.2 → NP_001306581.1 oxysterol-binding protein-related protein 8 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains three alternate exons and lacks an exon in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AF323730, AF392452, BC111728, CR749542

Consensus CDS

CCDS41814.1

UniProtKB/TrEMBL

Q5HYM3

Related

ENSP00000376939.2, ENST00000393249.6

Conserved Domains (2) summary

cd13286
Location:100 → 229

PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

pfam01237
Location:365 → 702

Oxysterol_BP; Oxysterol-binding protein
NM_001319653.2 → NP_001306582.1 oxysterol-binding protein-related protein 8 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site compared to variant 1. It encoded isoform c, which is shorter than isoform a.

Source sequence(s)

AC117491, AC122687, AC124943

UniProtKB/TrEMBL

Q5HYM3

Conserved Domains (3) summary

cd13286
Location:139 → 268

PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

pfam00169
Location:146 → 262

PH; PH domain

pfam01237
Location:404 → 742

Oxysterol_BP; Oxysterol-binding protein
NM_001319655.2 → NP_001306584.1 oxysterol-binding protein-related protein 8 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform d, which has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC122687, AF392452, AK092160, CR749542

UniProtKB/TrEMBL

Q5HYM3

Related

ENSP00000447893.1, ENST00000546946.5

Conserved Domains (3) summary

cd13286
Location:117 → 246

PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

pfam00169
Location:124 → 240

PH; PH domain

pfam01237
Location:382 → 720

Oxysterol_BP; Oxysterol-binding protein
NM_020841.5 → NP_065892.1 oxysterol-binding protein-related protein 8 isoform a

See identical proteins and their annotated locations for NP_065892.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AF392452, AL832876

Consensus CDS

CCDS31862.1

UniProtKB/Swiss-Prot

A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277

UniProtKB/TrEMBL

Q5HYM3

Related

ENSP00000261183.3, ENST00000261183.8

Conserved Domains (2) summary

cd13286
Location:142 → 271

PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

pfam01237
Location:407 → 744

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

76351797..76559771 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011537856.4 → XP_011536158.1 oxysterol-binding protein-related protein 8 isoform X4

See identical proteins and their annotated locations for XP_011536158.1

UniProtKB/TrEMBL

Q5HYM3

Conserved Domains (3) summary

cd13286
Location:155 → 284

PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

pfam00169
Location:162 → 278

PH; PH domain

pfam01237
Location:420 → 758

Oxysterol_BP; Oxysterol-binding protein
XM_017018769.3 → XP_016874258.1 oxysterol-binding protein-related protein 8 isoform X6

UniProtKB/TrEMBL

Q5HYM3

Conserved Domains (3) summary

cd13286
Location:139 → 268

PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

pfam00169
Location:146 → 262

PH; PH domain

pfam01237
Location:404 → 742

Oxysterol_BP; Oxysterol-binding protein
XM_047428251.1 → XP_047284207.1 oxysterol-binding protein-related protein 8 isoform X5

UniProtKB/Swiss-Prot

A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
XM_047428249.1 → XP_047284205.1 oxysterol-binding protein-related protein 8 isoform X4
XM_047428250.1 → XP_047284206.1 oxysterol-binding protein-related protein 8 isoform X5

UniProtKB/Swiss-Prot

A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
XM_011537857.4 → XP_011536159.1 oxysterol-binding protein-related protein 8 isoform X4

See identical proteins and their annotated locations for XP_011536159.1

UniProtKB/TrEMBL

Q5HYM3

Conserved Domains (3) summary

cd13286
Location:155 → 284

PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

pfam00169
Location:162 → 278

PH; PH domain

pfam01237
Location:420 → 758

Oxysterol_BP; Oxysterol-binding protein
XM_047428254.1 → XP_047284210.1 oxysterol-binding protein-related protein 8 isoform X9
XM_005268621.6 → XP_005268678.1 oxysterol-binding protein-related protein 8 isoform X5

See identical proteins and their annotated locations for XP_005268678.1

UniProtKB/Swiss-Prot

A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277

UniProtKB/TrEMBL

Q5HYM3

Conserved Domains (2) summary

cd13286
Location:142 → 271

PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

pfam01237
Location:407 → 744

Oxysterol_BP; Oxysterol-binding protein
XM_047428247.1 → XP_047284203.1 oxysterol-binding protein-related protein 8 isoform X3
XM_017018768.3 → XP_016874257.1 oxysterol-binding protein-related protein 8 isoform X2

UniProtKB/TrEMBL

Q5HYM3

Conserved Domains (2) summary

cd13286
Location:165 → 294

PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

pfam01237
Location:430 → 767

Oxysterol_BP; Oxysterol-binding protein
XM_047428246.1 → XP_047284202.1 oxysterol-binding protein-related protein 8 isoform X1
XM_047428248.1 → XP_047284204.1 oxysterol-binding protein-related protein 8 isoform X4
XM_047428255.1 → XP_047284211.1 oxysterol-binding protein-related protein 8 isoform X9
XM_047428253.1 → XP_047284209.1 oxysterol-binding protein-related protein 8 isoform X8
XM_047428252.1 → XP_047284208.1 oxysterol-binding protein-related protein 8 isoform X7

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

76329717..76537711 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054371003.1 → XP_054226978.1 oxysterol-binding protein-related protein 8 isoform X4
XM_054371011.1 → XP_054226986.1 oxysterol-binding protein-related protein 8 isoform X6
XM_054371007.1 → XP_054226982.1 oxysterol-binding protein-related protein 8 isoform X5

UniProtKB/Swiss-Prot

A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
XM_054371006.1 → XP_054226981.1 oxysterol-binding protein-related protein 8 isoform X5

UniProtKB/Swiss-Prot

A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
XM_054371005.1 → XP_054226980.1 oxysterol-binding protein-related protein 8 isoform X4
XM_054371013.1 → XP_054226988.1 oxysterol-binding protein-related protein 8 isoform X9
XM_054371009.1 → XP_054226984.1 oxysterol-binding protein-related protein 8 isoform X5

UniProtKB/Swiss-Prot

A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
XM_054371004.1 → XP_054226979.1 oxysterol-binding protein-related protein 8 isoform X4
XM_054371010.1 → XP_054226985.1 oxysterol-binding protein-related protein 8 isoform X3
XM_054371008.1 → XP_054226983.1 oxysterol-binding protein-related protein 8 isoform X2
XM_054371002.1 → XP_054226977.1 oxysterol-binding protein-related protein 8 isoform X10
XM_054371012.1 → XP_054226987.1 oxysterol-binding protein-related protein 8 isoform X7