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OSBPL6 oxysterol binding protein like 6 [ Homo sapiens (human) ]

Gene ID: 114880, updated on 1-Aug-2020

Summary

Official Symbol
OSBPL6provided by HGNC
Official Full Name
oxysterol binding protein like 6provided by HGNC
Primary source
HGNC:HGNC:16388
See related
Ensembl:ENSG00000079156 MIM:606734
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
ORP6
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. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 4.0), skin (RPKM 2.6) and 21 other tissues See more
Orthologs

Genomic context

See OSBPL6 in Genome Data Viewer
Location:
2q31.2
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (178194465..178402893)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179059208..179264160)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 45 Neighboring gene RNA, U5E small nuclear 9, pseudogene Neighboring gene cholesterol induced regulator of metabolism RNA Neighboring gene protein activator of interferon induced protein kinase EIF2AK2 Neighboring gene nuclear distribution C pseudogene 2 Neighboring gene pejvakin

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

Phenotypes

NHGRI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog
Impact of ancestry and common genetic variants on QT interval in African Americans.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of oxysterol binding protein-like 6 (OSBPL6) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with oxysterol binding protein-like 6 (OSBPL6) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36583, FLJ41254, MGC59642, DKFZp686M06110

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sterol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
regulation of cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
sterol transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
oxysterol-binding protein-related protein 6
Names
ORP-6
OSBP-related protein 6

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_001201480.2NP_001188409.1  oxysterol-binding protein-related protein 6 isoform c

    See identical proteins and their annotated locations for NP_001188409.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an additional in-frame coding exon, as compared to variant 1. The resulting isoform (c) is the longest and has an additional segment, as compared to isoform a.
    Source sequence(s)
    AB208898, AC009948, AC011743, CA425863
    Consensus CDS
    CCDS56150.1
    UniProtKB/Swiss-Prot
    Q9BZF3
    Related
    ENSP00000376293.2, ENST00000392505.6
    Conserved Domains (3) summary
    cd13287
    Location:66188
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:88177
    PH; PH domain
    pfam01237
    Location:595936
    Oxysterol_BP; Oxysterol-binding protein
  2. NM_001201481.2NP_001188410.1  oxysterol-binding protein-related protein 6 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (d) lacks an internal segment, as compared to isoform a.
    Source sequence(s)
    AB208898, AC009948, AC011743, CA425863
    Consensus CDS
    CCDS56152.1
    UniProtKB/Swiss-Prot
    Q9BZF3
    Related
    ENSP00000387248.3, ENST00000409045.7
    Conserved Domains (3) summary
    cd13287
    Location:66188
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:88177
    PH; PH domain
    pfam01237
    Location:539880
    Oxysterol_BP; Oxysterol-binding protein
  3. NM_001201482.1NP_001188411.1  oxysterol-binding protein-related protein 6 isoform e

    See identical proteins and their annotated locations for NP_001188411.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (e) lacks an internal segment, as compared to isoform a.
    Source sequence(s)
    AB208898, AC009948, AC011743, AF462443, CA425863
    Consensus CDS
    CCDS56151.1
    UniProtKB/Swiss-Prot
    Q9BZF3
    Related
    ENSP00000352713.3, ENST00000359685.7
    Conserved Domains (3) summary
    cd13287
    Location:66188
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:88177
    PH; PH domain
    pfam01237
    Location:534875
    Oxysterol_BP; Oxysterol-binding protein
  4. NM_032523.4NP_115912.1  oxysterol-binding protein-related protein 6 isoform a

    See identical proteins and their annotated locations for NP_115912.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. It encodes isoform a which contains both a pleckstrin homology domain and a sterol-binding domain.
    Source sequence(s)
    AB208898, AC009948, AC011743, AF323728, CA425863
    Consensus CDS
    CCDS2277.1
    UniProtKB/Swiss-Prot
    Q9BZF3
    Related
    ENSP00000190611.4, ENST00000190611.9
    Conserved Domains (3) summary
    cd13287
    Location:66188
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:88177
    PH; PH domain
    pfam01237
    Location:570911
    Oxysterol_BP; Oxysterol-binding protein
  5. NM_145739.3NP_665682.1  oxysterol-binding protein-related protein 6 isoform b

    See identical proteins and their annotated locations for NP_665682.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks three exons from the 5' end and has an alternate 5' exon and an in-frame internal exon in the CDS, as compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus and an additional segment, as compared to isoform a.
    Source sequence(s)
    AB208898, AC009948, AC011743, CA425863
    Consensus CDS
    CCDS2278.1
    UniProtKB/Swiss-Prot
    Q9BZF3
    Related
    ENSP00000318723.2, ENST00000315022.2
    Conserved Domains (3) summary
    cd13287
    Location:45167
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:67156
    PH; PH domain
    pfam01237
    Location:574915
    Oxysterol_BP; Oxysterol-binding protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    178194465..178402893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003267.2XP_016858756.1  oxysterol-binding protein-related protein 6 isoform X2

    UniProtKB/Swiss-Prot
    Q9BZF3
    Conserved Domains (3) summary
    cd13287
    Location:66188
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:88177
    PH; PH domain
    pfam01237
    Location:595936
    Oxysterol_BP; Oxysterol-binding protein
  2. XM_017003269.2XP_016858758.1  oxysterol-binding protein-related protein 6 isoform X4

    Conserved Domains (3) summary
    cd13287
    Location:66188
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:88177
    PH; PH domain
    pfam01237
    Location:559900
    Oxysterol_BP; Oxysterol-binding protein
  3. XM_017003271.2XP_016858760.1  oxysterol-binding protein-related protein 6 isoform X6

    UniProtKB/Swiss-Prot
    Q9BZF3
    Conserved Domains (3) summary
    cd13287
    Location:66188
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:88177
    PH; PH domain
    pfam01237
    Location:534875
    Oxysterol_BP; Oxysterol-binding protein
  4. XM_017003275.1XP_016858764.1  oxysterol-binding protein-related protein 6 isoform X9

  5. XM_017003265.2XP_016858754.1  oxysterol-binding protein-related protein 6 isoform X1

  6. XM_017003268.2XP_016858757.1  oxysterol-binding protein-related protein 6 isoform X4

    Conserved Domains (3) summary
    cd13287
    Location:66188
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:88177
    PH; PH domain
    pfam01237
    Location:559900
    Oxysterol_BP; Oxysterol-binding protein
  7. XM_017003274.2XP_016858763.1  oxysterol-binding protein-related protein 6 isoform X9

  8. XM_024452655.1XP_024308423.1  oxysterol-binding protein-related protein 6 isoform X13

    Conserved Domains (2) summary
    pfam01237
    Location:388729
    Oxysterol_BP; Oxysterol-binding protein
    cl17171
    Location:148
    PH-like; Pleckstrin homology-like domain
  9. XM_011510539.2XP_011508841.1  oxysterol-binding protein-related protein 6 isoform X3

    Conserved Domains (3) summary
    cd13287
    Location:35157
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:57146
    PH; PH domain
    pfam01237
    Location:564905
    Oxysterol_BP; Oxysterol-binding protein
  10. XM_017003272.2XP_016858761.1  oxysterol-binding protein-related protein 6 isoform X7

  11. XM_017003276.2XP_016858765.1  oxysterol-binding protein-related protein 6 isoform X10

  12. XM_017003273.2XP_016858762.1  oxysterol-binding protein-related protein 6 isoform X8

  13. XM_017003277.2XP_016858766.1  oxysterol-binding protein-related protein 6 isoform X11

  14. XM_017003266.1XP_016858755.1  oxysterol-binding protein-related protein 6 isoform X2

    UniProtKB/Swiss-Prot
    Q9BZF3
    Conserved Domains (3) summary
    cd13287
    Location:66188
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:88177
    PH; PH domain
    pfam01237
    Location:595936
    Oxysterol_BP; Oxysterol-binding protein
  15. XM_017003270.1XP_016858759.1  oxysterol-binding protein-related protein 6 isoform X5

    UniProtKB/Swiss-Prot
    Q9BZF3
    Conserved Domains (3) summary
    cd13287
    Location:66188
    PH_ORP3_ORP6_ORP7; Human Oxysterol binding protein related proteins 3, 6, and 7 Pleckstrin homology (PH) domain
    pfam00169
    Location:88177
    PH; PH domain
    pfam01237
    Location:539880
    Oxysterol_BP; Oxysterol-binding protein
  16. XM_024452654.1XP_024308422.1  oxysterol-binding protein-related protein 6 isoform X12

    Conserved Domains (2) summary
    pfam01237
    Location:424765
    Oxysterol_BP; Oxysterol-binding protein
    cl17171
    Location:148
    PH-like; Pleckstrin homology-like domain
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