OSBPL1A oxysterol binding protein like 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSBPL1Aprovided by HGNC
Official Full Name: oxysterol binding protein like 1Aprovided by HGNC
Primary source: HGNC:HGNC:16398
See related: Ensembl:ENSG00000141447 MIM:606730; AllianceGenome:HGNC:16398
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: ORP1; ORP-1; OSBPL1B
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. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 18.5), fat (RPKM 17.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q11.2

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (24162045..24397824, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (24356384..24592191, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (21742009..21977788, complement)

Chromosome 18 - NC_000018.10 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: 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?

Host Lipid Transport Protein ORP1 Is Necessary for Coxiella burnetii Growth and Vacuole Expansion in Macrophages.
Title: Host Lipid Transport Protein ORP1 Is Necessary for Coxiella burnetii Growth and Vacuole Expansion in Macrophages.
ORP1L mediated PI(4)P signaling at ER-lysosome-mitochondrion three-way contact contributes to mitochondrial division.
Title: ORP1L mediated PI(4)P signaling at ER-lysosome-mitochondrion three-way contact contributes to mitochondrial division.
Oxysterol-binding protein-related protein 1 variants have opposing cholesterol transport activities from the endolysosomes.
Title: Oxysterol-binding protein-related protein 1 variants have opposing cholesterol transport activities from the endolysosomes.
ORP1 is a unique sensor of lysosomal phosphatidylinosito-bisphosphates, and that PI(4,5)P2/PI(3,4)P2 allosterically regulates cholesterol transport by ORP1.
Title: Allosteric enhancement of ORP1-mediated cholesterol transport by PI(4,5)P(2)/PI(3,4)P(2).
structural and biochemical investigation of the Rab7-ORP1L interaction
Title: A non-canonical GTPase interaction enables ORP1L-Rab7-RILP complex formation and late endosome positioning.
ORP1L, via its liganding by lipids and the formation of contacts between autophagic vacuoles and the endoplasmic reticulum, governs the last steps in autophagy that lead to the lysosomal degradation of cytosolic material.
Title: Cholesterol and ORP1L-mediated ER contact sites control autophagosome transport and fusion with the endocytic pathway.
This study validated that rs3746444 polymorphism influenced the expression of miR499a, its target gene, osbpl1a, and thereby associated with the HDL level, which makes it a potential factor involved in the mechanism of atherosclerosis.
Title: A single nucleotide polymorphism located in microRNA-499a causes loss of function resulting in increased expression of osbpl1a and reduced serum HDL level.
ORP1L-dependent membrane contacts between late endosomes/lysosomes and the endoplasmic reticulum coordinate cholesterol transfer with the retrograde movement of endo-lysosomal vesicles.
Title: Oxysterol-Binding Protein-Related Protein 1L Regulates Cholesterol Egress from the Endo-Lysosomal System.
a familial loss-of-function mutation in OSBPL1A affects the first step of the reverse cholesterol transport process and associates with a low HDL-C phenotype
Title: A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity.
These data suggest that ORP1L is specifically recruited by the bacteria to the Coxiella parasitophorous vacuole, where it influences parasitophorous vacuole membrane dynamics and interactions with the endoplasmic reticulum.
Title: Interactions between the Coxiella burnetii parasitophorous vacuole and the endoplasmic reticulum involve the host protein ORP1L.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs). EBI GWAS Catalog EBI GWAS CatalogPubMed
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed

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 transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of oxysterol binding protein-like 1A (OSBPL1A) in peptide-treated PBMCs	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-146258 (e-PCR)
- UniSTS:175110

RH66753 (e-PCR)
- UniSTS:21767

STS-AA017150 (e-PCR)
- UniSTS:12296

SHGC-106708 (e-PCR)
- UniSTS:169995

GDB:434012 (e-PCR)
- UniSTS:157204

SGC33172 (e-PCR)
- UniSTS:49701

D8S2279 (e-PCR)
- UniSTS:473907

RH94026 (e-PCR)
- UniSTS:90447

D7S2067E (e-PCR)
- UniSTS:151120

RH81016 (e-PCR)
- UniSTS:93008

NoName (e-PCR)
- UniSTS:43101

D10S16 (e-PCR)
- UniSTS:155756

D7S3207 (e-PCR)
- UniSTS:229489

D1S1425 (e-PCR)
- UniSTS:149621

SHGC-153521 (e-PCR)
- UniSTS:177795

SHGC-146149 (e-PCR)
- UniSTS:175041

RH15637 (e-PCR)
- UniSTS:17648

Osbpl1a (e-PCR), detects polymorphism
- UniSTS:265470

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bile acid biosynthetic process	TAS Traceable Author Statement more info
involved_in cholesterol metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in lipid transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in organelle membrane contact site	IDA Inferred from Direct Assay more info	PubMed
is_active_in perinuclear endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: oxysterol-binding protein-related protein 1

Names: OSBP-related protein 1; oxysterol binding protein-like 1B

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_029432.1 RefSeqGene

Range

5046..240818

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001242508.1 → NP_001229437.1 oxysterol-binding protein-related protein 1 isoform 3

See identical proteins and their annotated locations for NP_001229437.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as OSBPL1C) lacks multiple exons from the 5' end and has an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 2. The resulting isoform (3, also known as C) has a shorter N-terminus, and it lacks ankyrin repeats and the pleckstrin homology domain, but contains the sterol-binding domain, compared to isoform 2.

Source sequence(s)

AF274714, AK301862

Consensus CDS

CCDS56056.1

UniProtKB/TrEMBL

Q6DKJ0

Related

ENSP00000349545.4, ENST00000357041.8

Conserved Domains (1) summary

pfam01237
Location:166 → 552

Oxysterol_BP; Oxysterol-binding protein
NM_018030.4 → NP_060500.3 oxysterol-binding protein-related protein 1 isoform 1

See identical proteins and their annotated locations for NP_060500.3

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as ORP1S or OSBPL1A) lacks multiple exons from the 5' end and has an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 2. The resulting isoform (1, also known as A) is the shortest. It lacks N-terminal ankyrin repeats and the pleckstrin homology domain, but contains the C-terminal sterol-binding domain, compared to isoform 2. Isoform 1 can bind to phospholipids but not to 25-hydroxycholesterol. It localizes to the cytosol and may function in the regulation of vesicle transport. Unlike the widespread expression of variant 2, the expression of this variant (1) appears to be limited to brain, retina, and retinal pigment epithelium/choroid tissue.

Source sequence(s)

AF274714

Consensus CDS

CCDS11885.1

UniProtKB/TrEMBL

B2RB91, Q6GSK5

Related

ENSP00000382372.3, ENST00000399443.7

Conserved Domains (1) summary

pfam01237
Location:35 → 421

Oxysterol_BP; Oxysterol-binding protein
NM_080597.4 → NP_542164.2 oxysterol-binding protein-related protein 1 isoform 2

See identical proteins and their annotated locations for NP_542164.2

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as ORP1L or OSBPL1B) encodes the longest isoform (2, also known as B). Isoform 2 contains three ankyrin repeats, a pleckstrin homology domain and a sterol-binding domain. Unlike the tissue-specific expression of variant 1, this variant is widely expressed.

Source sequence(s)

AF274714, AK096358, BC136452

Consensus CDS

CCDS11884.1

UniProtKB/Swiss-Prot

B7Z7D3, Q9BXW6, Q9BZF5, Q9NW87

UniProtKB/TrEMBL

B0YJ56, B7ZLX8

Related

ENSP00000320291.3, ENST00000319481.8

Conserved Domains (6) summary

cd00204
Location:43 → 196

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd13285
Location:229 → 352

PH_ORP1; Human Oxysterol binding protein related protein 1 Pleckstrin homology (PH) domain

pfam01237
Location:548 → 934

Oxysterol_BP; Oxysterol-binding protein

pfam12796
Location:10 → 111

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:160 → 216

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:43 → 78

ANK; ANK repeat [structural motif]

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

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

24162045..24397824 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017025530.2 → XP_016881019.1 oxysterol-binding protein-related protein 1 isoform X2

UniProtKB/TrEMBL

B7ZLX8
XM_047437287.1 → XP_047293243.1 oxysterol-binding protein-related protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

24356384..24592191 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054318172.1 → XP_054174147.1 oxysterol-binding protein-related protein 1 isoform X2
XM_054318171.1 → XP_054174146.1 oxysterol-binding protein-related protein 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_133268.1: Suppressed sequence

Description

NM_133268.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.