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

Gene ID: 114879, updated on 23-Nov-2021

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
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
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Genomic context

See OSBPL5 in Genome Data Viewer
Location:
11p15.4
Exon count:
25
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (3087107..3165310, complement)
105.20201022 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 CARS1 antisense RNA 1 Neighboring gene RNA, U1 small nuclear 91, pseudogene Neighboring gene uncharacterized LOC107987158 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables sterol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
PubMed 
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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
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
PubMed 

General protein information

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

  1. NG_009548.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001144063.2NP_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/Swiss-Prot
    Q9H0X9
    UniProtKB/TrEMBL
    A8KAD5
    Related
    ENSP00000302872.8, ENST00000348039.9
    Conserved Domains (2) summary
    pfam01237
    Location:303641
    Oxysterol_BP; Oxysterol-binding protein
    cl17171
    Location:134180
    PH-like; Pleckstrin homology-like domain
  2. NM_020896.4NP_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
    Q9H0X9
    Related
    ENSP00000263650.7, ENST00000263650.12
    Conserved Domains (2) summary
    cd13286
    Location:120248
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:374709
    Oxysterol_BP; Oxysterol-binding protein
  3. NM_145638.3NP_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/Swiss-Prot
    Q9H0X9
    Related
    ENSP00000374639.3, ENST00000389989.7
    Conserved Domains (2) summary
    pfam01237
    Location:303641
    Oxysterol_BP; Oxysterol-binding protein
    cl17171
    Location:134180
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017017163.2XP_016872652.1  oxysterol-binding protein-related protein 5 isoform X1

    UniProtKB/Swiss-Prot
    Q9H0X9
    Conserved Domains (2) summary
    cd13286
    Location:120248
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:374709
    Oxysterol_BP; Oxysterol-binding protein
  2. XM_011519873.3XP_011518175.1  oxysterol-binding protein-related protein 5 isoform X1

    See identical proteins and their annotated locations for XP_011518175.1

    UniProtKB/Swiss-Prot
    Q9H0X9
    Conserved Domains (2) summary
    cd13286
    Location:120248
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:374709
    Oxysterol_BP; Oxysterol-binding protein
  3. XM_017017164.1XP_016872653.1  oxysterol-binding protein-related protein 5 isoform X2

    Related
    ENSP00000431412.1, ENST00000534454.5
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