OSBPL5 oxysterol binding protein like 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSBPL5provided by HGNC
Official Full Name: oxysterol binding protein like 5provided by HGNC
Primary source: HGNC:HGNC:16392
See related: Ensembl:ENSG00000021762 MIM:606733; AllianceGenome:HGNC:16392
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: ORP5; OBPH1
Summary: This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
Expression: Ubiquitous expression in spleen (RPKM 7.8), endometrium (RPKM 5.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (3087107..3165310, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (3176307..3255561, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (3108337..3186540, complement)

Chromosome 11 - NC_000011.10 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: 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?

ORP5 promotes migration and invasion of cervical cancer cells by inhibiting endoplasmic reticulum stress.
Title: ORP5 promotes migration and invasion of cervical cancer cells by inhibiting endoplasmic reticulum stress.
ORP5 and ORP8: Sterol Sensors and Phospholipid Transfer Proteins at Membrane Contact Sites?
Title: ORP5 and ORP8: Sterol Sensors and Phospholipid Transfer Proteins at Membrane Contact Sites?
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.
Data suggest that ORP5/OSBPL5 promotes cell proliferation, cell motility, and invasiveness of neoplasm cells; this effect of ORP5/OSBPL5 depends on functional OSBP-related domain (ORD). ORP5/OSBPL5 is needed for activation of mTORC1 signaling and for transport of mTOR to lysosomes. (mTORC1 = mechanistic target of rapamycin complex-1; mTOR = mechanistic target of rapamycin)
Title: Oxysterol-binding protein-related protein 5 (ORP5) promotes cell proliferation by activation of mTORC1 signaling.
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.
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.
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.
Results show that OSBPL5 and CALU were expressed at higher levels in the lung tissues of metastasis-positive cases than that in the metastasis-negative cases suggesting they can promote invasiveness of lung cancer cells.
Title: Identification and evaluation of metastasis-related proteins, oxysterol binding protein-like 5 and calumenin, in lung tumors.
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.
ORP5 may cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes.
Title: A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-09-06) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-09-06) ClinGen Genome Curation Page

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

D11S3806 (e-PCR)
- UniSTS:153036

RH92244 (e-PCR)
- UniSTS:86999

SHGC-145461 (e-PCR)
- UniSTS:174589

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 oxysterol binding	NAS Non-traceable Author Statement 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

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in cholesterol metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in cholesterol transport	NAS Non-traceable Author Statement more info	PubMed
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylserine acyl-chain remodeling	TAS Traceable Author Statement more info
involved_in phospholipid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum-plasma membrane contact site	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
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 5

Names: ORP-5; OSBP-related protein 5; oxysterol-binding protein homolog 1; oxysterol-binding protein homologue 1

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.

Genomic

NG_009548.2 RefSeqGene

Range

5043..83246

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001144063.2 → NP_001137535.1 oxysterol-binding protein-related protein 5 isoform b

See identical proteins and their annotated locations for NP_001137535.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame exon compared to variant 1, resulting in a shorter isoform (b) compared to isoform a. Isoform b has a sterol-binding domain but lacks a complete pleckstrin homology domain. Variants 2 and 3 encode the same protein.

Source sequence(s)

AC108448, AK293000, AL136918, BC032646, DC400863

Consensus CDS

CCDS31343.1

UniProtKB/TrEMBL

A8KAD5

Related

ENSP00000302872.8, ENST00000348039.9

Conserved Domains (2) summary

pfam01237
Location:303 → 641

Oxysterol_BP; Oxysterol-binding protein

cl17171
Location:134 → 180

PH-like; Pleckstrin homology-like domain
NM_020896.4 → NP_065947.1 oxysterol-binding protein-related protein 5 isoform a

See identical proteins and their annotated locations for NP_065947.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a). Isoform a has a pleckstrin homology domain and a sterol-binding domain.

Source sequence(s)

AC108448, AL136918, BC039579, DC400863

Consensus CDS

CCDS31344.1

UniProtKB/Swiss-Prot

A6NDP0, A6NJS8, B4DVB0, Q54A90, Q8N596, Q9BZB0, Q9H0X9, Q9P1Z4

UniProtKB/TrEMBL

A8KAD5

Related

ENSP00000263650.7, ENST00000263650.12

Conserved Domains (2) summary

cd13286
Location:120 → 248

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

pfam01237
Location:374 → 709

Oxysterol_BP; Oxysterol-binding protein
NM_145638.3 → NP_663613.1 oxysterol-binding protein-related protein 5 isoform b

See identical proteins and their annotated locations for NP_663613.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon compared to variant 1, resulting in a shorter isoform (b) compared to isoform a. Isoform b has a sterol-binding domain but lacks a complete pleckstrin homology domain. Variants 2 and 3 encode the same protein.

Source sequence(s)

AC108448, AL136918, BC032646, DC400863

Consensus CDS

CCDS31343.1

UniProtKB/TrEMBL

A8KAD5

Related

ENSP00000374639.3, ENST00000389989.7

Conserved Domains (2) summary

pfam01237
Location:303 → 641

Oxysterol_BP; Oxysterol-binding protein

cl17171
Location:134 → 180

PH-like; Pleckstrin homology-like domain

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_000011.10 Reference GRCh38.p14 Primary Assembly

Range

3087107..3165310 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017017163.3 → XP_016872652.1 oxysterol-binding protein-related protein 5 isoform X1

UniProtKB/Swiss-Prot

A6NDP0, A6NJS8, B4DVB0, Q54A90, Q8N596, Q9BZB0, Q9H0X9, Q9P1Z4

UniProtKB/TrEMBL

A8KAD5

Conserved Domains (2) summary

cd13286
Location:120 → 248

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

pfam01237
Location:374 → 709

Oxysterol_BP; Oxysterol-binding protein
XM_011519873.4 → XP_011518175.1 oxysterol-binding protein-related protein 5 isoform X1

See identical proteins and their annotated locations for XP_011518175.1

UniProtKB/Swiss-Prot

A6NDP0, A6NJS8, B4DVB0, Q54A90, Q8N596, Q9BZB0, Q9H0X9, Q9P1Z4

UniProtKB/TrEMBL

A8KAD5

Conserved Domains (2) summary

cd13286
Location:120 → 248

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

pfam01237
Location:374 → 709

Oxysterol_BP; Oxysterol-binding protein