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    OSBPL3 oxysterol binding protein-like 3 [ Homo sapiens ]

    Gene ID: 26031, updated on 11-May-2012
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    Summary

    Official Symbol
    OSBPL3provided by HGNC
    Official Full Name
    oxysterol binding protein-like 3provided by HGNC
    Primary source
    HGNC:16370
    See related
    Ensembl:ENSG00000070882; HPRD:09474; MIM:606732; Vega:OTTHUMG00000023277
    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
    ORP3; ORP-3; OSBP3; KIAA0704; MGC21526; DKFZp667P1518
    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. Several transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    7p15
    Sequence :
    Chromosome: 7; NC_000007.13 (24836159..25019760, complement)
    See OSBPL3 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) Neighboring gene deafness, autosomal dominant 5 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene Neighboring gene chromosome 7 open reading frame 31 Neighboring gene cytochrome c, somatic

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    4. The R-Ras interaction partner ORP3 regulates cell adhesion. Lehto M, et al. J Cell Sci, 2008 Mar 1. PMID 18270267.
    5. Large-scale mapping of human protein-protein interactions by mass spectrometry. Ewing RM, et al. Mol Syst Biol, 2007. PMID 17353931.

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. 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.
    2. The present findings demonstrate a new function of ORP3 as part of the machinery that controls the actin cytoskeleton, cell polarity and cell adhesion.
      Title: The R-Ras interaction partner ORP3 regulates cell adhesion.
    3. The intracellular targeting determinants of oxysterol binding protein (OSBP)-related protein 3 (ORP3) were studied using a series of truncated and point mutated constructs.
      Title: Targeting of OSBP-related protein 3 (ORP3) to endoplasmic reticulum and plasma membrane is controlled by multiple determinants.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9H4L5 P31946 YWHAB    HPRD  PubMed  
    Q9H4L5 P61981 YWHAG    HPRD  PubMed  
    BioGRID:117497 BioGRID:109072 SFN    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117497 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117497 BioGRID:113361 YWHAB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117497 BioGRID:113364 YWHAG    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    transport IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    oxysterol-binding protein-related protein 3
    Names
    oxysterol-binding protein-related protein 3
    OSBP-related protein 3
    oxysterol-binding protein 3
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    NCBI Reference Sequences (RefSeq)

    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)

    1. NM_015550.2 → NP_056365.1  oxysterol-binding protein-related protein 3 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Isoform a contains a pleckstrin homology domain and a sterol-binding domain. It is also known as isoform 1a.
      Source sequence(s)
      AY008372, BC017731
      Consensus CDS
      CCDS5390.1
      UniProtKB/Swiss-Prot
      Q9H4L5
      Related
      ENSP00000315410, OTTHUMP00000122489, ENST00000313367, OTTHUMT00000214085
      Conserved Domains (2) summary
      cd01246
      Location:54 – 144
      Blast Score: 252
      PH_oxysterol_bp; Oxysterol binding protein (OSBP) Pleckstrin homology (PH) domain
      pfam01237
      Location:546 – 869
      Blast Score: 1079
      Oxysterol_BP; Oxysterol-binding protein

    2. NM_145320.1 → NP_663160.1  oxysterol-binding protein-related protein 3 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1, resulting in a shorter isoform (b) compared to isoform a. Isoform b contains a pleckstrin homology domain and a sterol-binding domain. It is also known as isoform 1b.
      Source sequence(s)
      AF491782, AY008372, BC017731
      Consensus CDS
      CCDS5391.1
      UniProtKB/Swiss-Prot
      Q9H4L5
      Related
      ENSP00000315331, ENST00000352860
      Conserved Domains (2) summary
      cd01246
      Location:54 – 144
      Blast Score: 253
      PH_oxysterol_bp; Oxysterol binding protein (OSBP) Pleckstrin homology (PH) domain
      pfam01237
      Location:515 – 838
      Blast Score: 1080
      Oxysterol_BP; Oxysterol-binding protein

    3. NM_145321.1 → NP_663161.1  oxysterol-binding protein-related protein 3 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon compared to variant 1, resulting in a shorter isoform (c) compared to isoform a. Isoform c contains a pleckstrin homology domain and a sterol-binding domain. It is also known as isoform 1c.
      Source sequence(s)
      AF491783, AY008372, BC017731
      Consensus CDS
      CCDS5392.1
      UniProtKB/Swiss-Prot
      Q9H4L5
      Related
      ENSP00000315277, ENST00000353930
      Conserved Domains (2) summary
      cd01246
      Location:54 – 144
      Blast Score: 251
      PH_oxysterol_bp; Oxysterol binding protein (OSBP) Pleckstrin homology (PH) domain
      pfam01237
      Location:510 – 833
      Blast Score: 1075
      Oxysterol_BP; Oxysterol-binding protein

    4. NM_145322.1 → NP_663162.1  oxysterol-binding protein-related protein 3 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two in-frame exons compared to variant 1, resulting in a shorter isoform (d) compared to isoform a. Isoform d contains a pleckstrin homology domain and a sterol-binding domain. It is also known as isoform 1d.
      Source sequence(s)
      AF491784, AY008372, BC017731
      Consensus CDS
      CCDS47564.1
      UniProtKB/Swiss-Prot
      Q9H4L5
      Related
      ENSP00000389779, ENST00000431825
      Conserved Domains (2) summary
      cd01246
      Location:54 – 144
      Blast Score: 253
      PH_oxysterol_bp; Oxysterol binding protein (OSBP) Pleckstrin homology (PH) domain
      pfam01237
      Location:479 – 802
      Blast Score: 1077
      Oxysterol_BP; Oxysterol-binding protein

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      24836159..25019760, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      24720703..24906416, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      24887733..25071319, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145323.1: Suppressed sequence

      Description
      NM_145323.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.

    2. NM_145324.1: Suppressed sequence

      Description
      NM_145324.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC003093.1 AAB83939.1
    genomic AC004008.2 None
    genomic AC004016.1 AAC26986.2
    genomic AC004239.1 None
    genomic CH236948.1 EAL24240.1
      EAL24241.1
      EAL24242.1
      EAL24243.1
      EAL24244.1
      EAL24245.1
    genomic CH471073.1 EAW93818.1
      EAW93819.1
      EAW93820.1
      EAW93821.1
    mRNA AB014604.2 BAA31679.2
    mRNA AF323727.1 AAG53408.1
    mRNA AF392444.1 AAL40657.1
    mRNA AF491781.1 AAM27386.1
    mRNA AF491782.1 AAM27387.1
    mRNA AF491783.1 AAM27388.1
    mRNA AF491784.1 AAM27389.1
    mRNA AF491785.1 AAM27390.1
    mRNA AF491786.1 AAM27391.1
    mRNA AF515639.1 AAM74165.1
    mRNA AF515640.1 AAM74166.1
    mRNA AL832293.1 None
    mRNA AY008372.1 AAG23400.1
    mRNA BC017731.1 AAH17731.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4L5.1 GenPept UniProtKB/Swiss-Prot:Q9H4L5
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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