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

Gene ID: 114882, updated on 26-May-2016
Official Symbol
OSBPL8provided by HGNC
Official Full Name
oxysterol binding protein like 8provided by HGNC
Primary source
HGNC:HGNC:16396
See related
Ensembl:ENSG00000091039 HPRD:09478; MIM:606736; Vega:OTTHUMG00000169876
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]
Orthologs
Location:
12q14
Exon count:
30
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (76351797..76559809, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (76745577..76953589, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369849 Neighboring gene Bardet-Biedl syndrome 10 Neighboring gene uncharacterized LOC105369850 Neighboring gene ribosomal protein L7a pseudogene 9 Neighboring gene YWHAQ pseudogene 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126578, MGC133203, DKFZp686A11164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylserine binding IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
activation of protein kinase B activity ISS
Inferred from Sequence or Structural Similarity
more info
 
fat cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of sequestering of triglyceride IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of glucose import in response to insulin stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase B signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to nuclear pore IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cortical endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
oxysterol-binding protein-related protein 8
Names
OSBP-related protein 8

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_001003712.1NP_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, AL832876, BX647211
    Consensus CDS
    CCDS41814.1
    UniProtKB/Swiss-Prot
    Q9BZF1
    UniProtKB/TrEMBL
    Q5HYM3
    Related
    ENSP00000376940, OTTHUMP00000242349, ENST00000393250, OTTHUMT00000406359
    Conserved Domains (2) summary
    pfam01237
    Location:365703
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:100229
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  2. NM_001319652.1NP_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
    UniProtKB/Swiss-Prot
    Q9BZF1
    Conserved Domains (2) summary
    pfam01237
    Location:365703
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:100229
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  3. NM_001319653.1NP_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 (2) summary
    pfam01237
    Location:404742
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:139268
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  4. NM_001319655.1NP_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
    Conserved Domains (2) summary
    pfam01237
    Location:382720
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:117246
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  5. NM_020841.4NP_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, OTTHUMP00000242348, ENST00000261183, OTTHUMT00000406357
    Conserved Domains (2) summary
    pfam01237
    Location:407745
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:142271
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    76351797..76559809 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268622.1XP_005268679.1  

    Conserved Domains (2) summary
    pfam01237
    Location:404742
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:139268
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  2. XM_011537856.1XP_011536158.1  

    See identical proteins and their annotated locations for XP_011536158.1

    Conserved Domains (2) summary
    pfam01237
    Location:420758
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:155284
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  3. XM_006719224.1XP_006719287.1  

    See identical proteins and their annotated locations for XP_006719287.1

    UniProtKB/Swiss-Prot
    Q9BZF1
    Related
    ENSP00000478240, ENST00000611266
    Conserved Domains (2) summary
    pfam01237
    Location:365703
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:100229
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  4. XM_011537857.1XP_011536159.1  

    See identical proteins and their annotated locations for XP_011536159.1

    Conserved Domains (2) summary
    pfam01237
    Location:420758
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:155284
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  5. XM_005268621.3XP_005268678.1  

    See identical proteins and their annotated locations for XP_005268678.1

    UniProtKB/Swiss-Prot
    Q9BZF1
    UniProtKB/TrEMBL
    A0A024RBB8
    Conserved Domains (2) summary
    pfam01237
    Location:407745
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:142271
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  6. XM_005268623.3XP_005268680.1  

    Related
    ENSP00000376939, OTTHUMP00000242347, ENST00000393249, OTTHUMT00000406356
    Conserved Domains (2) summary
    pfam01237
    Location:365703
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:100229
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  7. XM_011537855.1XP_011536157.1  

    Conserved Domains (2) summary
    pfam01237
    Location:417755
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:152281
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  8. XM_011537858.1XP_011536160.1  

    Conserved Domains (2) summary
    pfam01237
    Location:394732
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:129258
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
  9. XM_011537859.1XP_011536161.1  

    Related
    ENSP00000447893, OTTHUMP00000242351, ENST00000546946, OTTHUMT00000406362
    Conserved Domains (2) summary
    pfam01237
    Location:382720
    Oxysterol_BP; Oxysterol-binding protein
    cd13286
    Location:117246
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    76711170..76919193 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)