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

    Gene ID: 114879, updated on 11-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See OSBPL5 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (3087107..3165310, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (3176307..3255561, complement)
    105.20220307 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

    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

    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

    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)

    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_001144063.2NP_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/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
      A6NDP0, A6NJS8, B4DVB0, Q54A90, Q8N596, Q9BZB0, Q9H0X9, Q9P1Z4
      UniProtKB/TrEMBL
      A8KAD5
      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/TrEMBL
      A8KAD5
      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: 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

    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_017017163.3XP_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: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_011519873.4XP_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: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

    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_054367594.1XP_054223569.1  oxysterol-binding protein-related protein 5 isoform X1

      UniProtKB/Swiss-Prot
      A6NDP0, A6NJS8, B4DVB0, Q54A90, Q8N596, Q9BZB0, Q9H0X9, Q9P1Z4
    2. XM_054367593.1XP_054223568.1  oxysterol-binding protein-related protein 5 isoform X1

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