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

Gene ID: 114879, updated on 2-Nov-2024

Summary

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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

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See OSBPL5 in Genome Data Viewer
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_000011.10Genomic Context describing neighboring genes Neighboring gene cysteinyl-tRNA synthetase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4307 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3078307-3078839 Neighboring gene uncharacterized LOC124902615 Neighboring gene RNA, U1 small nuclear 91, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3083786-3084412 Neighboring gene MPRA-validated peak1169 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3096337-3096837 Neighboring gene hESC enhancers GRCh37_chr11:3112372-3113180 and GRCh37_chr11:3113181-3113988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3114797-3115604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3075 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21160 Neighboring gene Sharpr-MPRA regulatory region 6583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3156337-3156944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3156945-3157553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3157554-3158161 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3170165-3170940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3170941-3171714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3171715-3172488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3174611-3175359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3178797-3179602 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:3180024-3180197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3184585-3185278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3187022-3187734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3193010-3193510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3193511-3194011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3203703-3204203 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3223199-3223854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3241139-3242101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3245215-3246093 Neighboring gene MRGPRG antisense RNA 1 Neighboring gene MAS related GPR family member G Neighboring gene MAS related GPR family member E

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. ORP5 promotes migration and invasion of cervical cancer cells by inhibiting endoplasmic reticulum stress. Wu Y, et al. Cell Stress Chaperones, 2023 Jul. PMID 37314629, Free PMC Article
  2. Oxysterol binding protein-related protein-5 is related to invasion and poor prognosis in pancreatic cancer. Koga Y, et al. Cancer Sci, 2008 Dec. PMID 19032366, Free PMC Article
  3. ORP5 and ORP8: Sterol Sensors and Phospholipid Transfer Proteins at Membrane Contact Sites? Santos NC, et al. Biomolecules, 2020 Jun 18. PMID 32570981, Free PMC Article
  4. Characterization and imprinting status of OBPH1/Obph1 gene: implications for an extended imprinting domain in human and mouse. Higashimoto K, et al. Genomics, 2002 Dec. PMID 12504849
  5. Identification and evaluation of metastasis-related proteins, oxysterol binding protein-like 5 and calumenin, in lung tumors. Nagano K, et al. Int J Oncol, 2015 Jul. PMID 25963840

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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?
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42929

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
  
enables sterol binding IBA
Inferred from Biological aspect of Ancestor
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 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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NEW Try the new Transcript table

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

  1. NG_009548.2 RefSeqGene

    Range
    5043..83246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    3087107..3165310 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    3176307..3255561 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367594.1 → XP_054223569.1  oxysterol-binding protein-related protein 5 isoform X1

    UniProtKB/Swiss-Prot
    A6NDP0, A6NJS8, B4DVB0, Q54A90, Q8N596, Q9BZB0, Q9H0X9, Q9P1Z4

  2. XM_054367593.1 → XP_054223568.1  oxysterol-binding protein-related protein 5 isoform X1

    UniProtKB/Swiss-Prot
    A6NDP0, A6NJS8, B4DVB0, Q54A90, Q8N596, Q9BZB0, Q9H0X9, Q9P1Z4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0X9.1 GenPept UniProtKB/Swiss-Prot:Q9H0X9

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