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OSBPL8 oxysterol binding protein like 8 [ Homo sapiens (human) ]

Gene ID: 114882, updated on 5-Sep-2021

Summary

Official Symbol
OSBPL8provided by HGNC
Official Full Name
oxysterol binding protein like 8provided by HGNC
Primary source
HGNC:HGNC:16396
See related
Ensembl:ENSG00000091039 MIM:606736
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
ORP8; MST120; OSBP10; MSTP120
Summary
This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in kidney (RPKM 16.1), lymph node (RPKM 15.4) and 25 other tissues See more
Orthologs
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Genomic context

See OSBPL8 in Genome Data Viewer
Location:
12q21.2
Exon count:
30
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (76351797..76559805, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (76745577..76953551, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 172 Neighboring gene Bardet-Biedl syndrome 10 Neighboring gene uncharacterized LOC105369850 Neighboring gene ribosomal protein L7a pseudogene 9 Neighboring gene YWHAQ pseudogene 7

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126578, MGC133203, DKFZp686A11164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cholesterol binding IDA
Inferred from Direct Assay
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 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 activation of protein kinase B activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fat cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of sequestering of triglyceride IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
involved_in phospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of glucose import ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein kinase B signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein localization to nuclear pore IEA
Inferred from Electronic Annotation
more info
 
involved_in sterol transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
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 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 membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
oxysterol-binding protein-related protein 8
Names
OSBP-related protein 8

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.

mRNA and Protein(s)

  1. NM_001003712.2NP_001003712.1  oxysterol-binding protein-related protein 8 isoform b

    See identical proteins and their annotated locations for NP_001003712.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AF323730, AF392452, BX647211
    Consensus CDS
    CCDS41814.1
    UniProtKB/Swiss-Prot
    Q9BZF1
    UniProtKB/TrEMBL
    Q5HYM3
    Related
    ENSP00000376940.4, ENST00000393250.8
    Conserved Domains (2) summary
    cd13286
    Location:100229
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:365702
    Oxysterol_BP; Oxysterol-binding protein
  2. NM_001319652.2NP_001306581.1  oxysterol-binding protein-related protein 8 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains three alternate exons and lacks an exon in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AF323730, AF392452, BC111728, CR749542
    Consensus CDS
    CCDS41814.1
    UniProtKB/Swiss-Prot
    Q9BZF1
    Related
    ENSP00000376939.2, ENST00000393249.6
    Conserved Domains (2) summary
    cd13286
    Location:100229
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:365702
    Oxysterol_BP; Oxysterol-binding protein
  3. NM_001319653.2NP_001306582.1  oxysterol-binding protein-related protein 8 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site compared to variant 1. It encoded isoform c, which is shorter than isoform a.
    Source sequence(s)
    AC117491, AC122687, AC124943
    Conserved Domains (3) summary
    cd13286
    Location:139268
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam00169
    Location:146262
    PH; PH domain
    pfam01237
    Location:404742
    Oxysterol_BP; Oxysterol-binding protein
  4. NM_001319655.2NP_001306584.1  oxysterol-binding protein-related protein 8 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform d, which has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC122687, AF392452, AK092160, CR749542
    UniProtKB/Swiss-Prot
    Q9BZF1
    Related
    ENSP00000447893.1, ENST00000546946.5
    Conserved Domains (3) summary
    cd13286
    Location:117246
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam00169
    Location:124240
    PH; PH domain
    pfam01237
    Location:382720
    Oxysterol_BP; Oxysterol-binding protein
  5. NM_020841.5NP_065892.1  oxysterol-binding protein-related protein 8 isoform a

    See identical proteins and their annotated locations for NP_065892.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AF392452, AL832876
    Consensus CDS
    CCDS31862.1
    UniProtKB/Swiss-Prot
    Q9BZF1
    UniProtKB/TrEMBL
    A0A024RBB8
    Related
    ENSP00000261183.3, ENST00000261183.8
    Conserved Domains (2) summary
    cd13286
    Location:142271
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:407745
    Oxysterol_BP; Oxysterol-binding protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    76351797..76559805 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719224.3XP_006719287.1  oxysterol-binding protein-related protein 8 isoform X6

    See identical proteins and their annotated locations for XP_006719287.1

    UniProtKB/Swiss-Prot
    Q9BZF1
    Related
    ENSP00000478240.1, ENST00000611266.4
    Conserved Domains (2) summary
    cd13286
    Location:100229
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:365702
    Oxysterol_BP; Oxysterol-binding protein
  2. XM_011537856.3XP_011536158.1  oxysterol-binding protein-related protein 8 isoform X2

    See identical proteins and their annotated locations for XP_011536158.1

    Conserved Domains (3) summary
    cd13286
    Location:155284
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam00169
    Location:162278
    PH; PH domain
    pfam01237
    Location:420758
    Oxysterol_BP; Oxysterol-binding protein
  3. XM_017018769.2XP_016874258.1  oxysterol-binding protein-related protein 8 isoform X5

    Conserved Domains (3) summary
    cd13286
    Location:139268
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam00169
    Location:146262
    PH; PH domain
    pfam01237
    Location:404742
    Oxysterol_BP; Oxysterol-binding protein
  4. XM_011537857.3XP_011536159.1  oxysterol-binding protein-related protein 8 isoform X2

    See identical proteins and their annotated locations for XP_011536159.1

    Conserved Domains (3) summary
    cd13286
    Location:155284
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam00169
    Location:162278
    PH; PH domain
    pfam01237
    Location:420758
    Oxysterol_BP; Oxysterol-binding protein
  5. XM_005268621.5XP_005268678.1  oxysterol-binding protein-related protein 8 isoform X3

    See identical proteins and their annotated locations for XP_005268678.1

    UniProtKB/Swiss-Prot
    Q9BZF1
    UniProtKB/TrEMBL
    A0A024RBB8
    Conserved Domains (2) summary
    cd13286
    Location:142271
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:407745
    Oxysterol_BP; Oxysterol-binding protein
  6. XM_024448829.1XP_024304597.1  oxysterol-binding protein-related protein 8 isoform X6

    Conserved Domains (2) summary
    cd13286
    Location:100229
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:365702
    Oxysterol_BP; Oxysterol-binding protein
  7. XM_017018768.2XP_016874257.1  oxysterol-binding protein-related protein 8 isoform X4

    Conserved Domains (2) summary
    cd13286
    Location:165294
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:430767
    Oxysterol_BP; Oxysterol-binding protein
  8. XM_011537855.3XP_011536157.1  oxysterol-binding protein-related protein 8 isoform X1

    Conserved Domains (3) summary
    cd13286
    Location:152281
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam00169
    Location:159275
    PH; PH domain
    pfam01237
    Location:417755
    Oxysterol_BP; Oxysterol-binding protein
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