OSBPL7 oxysterol binding protein like 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSBPL7provided by HGNC
Official Full Name: oxysterol binding protein like 7provided by HGNC
Primary source: HGNC:HGNC:16387
See related: Ensembl:ENSG00000006025 MIM:606735; AllianceGenome:HGNC:16387
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: ORP7
Summary: This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
Expression: Broad expression in stomach (RPKM 18.4), duodenum (RPKM 12.5) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.32

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (47807372..47821794, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (48669144..48683591, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (45884738..45899160, complement)

Chromosome 17 - NC_000017.11 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: 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?

In preliminary results, significantly higher levels of OSBP2 and OSBPL-7 mRNA were seen in blood samples from cholangiocarcinoma patients than in healthy controls.
Title: Expression of oxysterol binding protein isoforms in opisthorchiasis-associated cholangiocarcinoma: a potential molecular marker for tumor metastasis.
ORP7 negatively regulates GS28 protein stability via sequestration of GATE-16, and may mediate the effect of 25-OH on GS28 and Golgi function.
Title: OSBP-related protein 7 interacts with GATE-16 and negatively regulates GS28 protein stability.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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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
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 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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Replication interactions

Interaction	Pubs
Knockdown of oxysterol binding protein-like 7 (OSBPL7) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	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

STS-AA039646 (e-PCR)
- UniSTS:41041

RH64830 (e-PCR)
- UniSTS:87182

MARC_23479-23480:1041546652:1 (e-PCR)
- UniSTS:268708

G59312 (e-PCR)
- UniSTS:136627

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 cellular response to cholesterol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of autophagy	NAS Non-traceable Author Statement more info	PubMed
involved_in sterol transport	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: oxysterol-binding protein-related protein 7

Names: ORP-7; OSBP-related protein 7

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_145798.3 → NP_665741.1 oxysterol-binding protein-related protein 7

See identical proteins and their annotated locations for NP_665741.1

Status: REVIEWED

Source sequence(s)

AC003665, AF392446, BC065482, BM674891

Consensus CDS

CCDS11515.1

UniProtKB/Swiss-Prot

D3DTT6, Q6PIV6, Q9BZF2

UniProtKB/TrEMBL

Q8WXP9

Related

ENSP00000007414.3, ENST00000007414.8

Conserved Domains (3) summary

cd13287
Location:27 → 149

PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain

pfam00169
Location:51 → 139

PH; PH domain

pfam01237
Location:478 → 819

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_000017.11 Reference GRCh38.p14 Primary Assembly

Range

47807372..47821794 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435293.1 → XP_047291249.1 oxysterol-binding protein-related protein 7 isoform X2
XM_047435292.1 → XP_047291248.1 oxysterol-binding protein-related protein 7 isoform X1

UniProtKB/Swiss-Prot

D3DTT6, Q6PIV6, Q9BZF2

RNA

XR_934362.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

48669144..48683591 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314946.1 → XP_054170921.1 oxysterol-binding protein-related protein 7 isoform X1

UniProtKB/Swiss-Prot

D3DTT6, Q6PIV6, Q9BZF2

RNA

XR_008484778.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_017731.4: Suppressed sequence

Description

NM_017731.4: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.