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OSBPL1A oxysterol binding protein like 1A [ Homo sapiens (human) ]

Gene ID: 114876, updated on 13-Mar-2020

Summary

Official Symbol
OSBPL1Aprovided by HGNC
Official Full Name
oxysterol binding protein like 1Aprovided by HGNC
Primary source
HGNC:HGNC:16398
See related
Ensembl:ENSG00000141447 MIM:606730
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
ORP1; ORP-1; OSBPL1B
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, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 18.5), fat (RPKM 17.7) and 24 other tissues See more
Orthologs

Genomic context

See OSBPL1A in Genome Data Viewer
Location:
18q11.2
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (24162045..24397882, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (21742009..21977846, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 39C Neighboring gene uncharacterized LOC112268213 Neighboring gene calcium binding tyrosine phosphorylation regulated Neighboring gene RNA, 5S ribosomal pseudogene 452 Neighboring gene RNA, U6 small nuclear 435, pseudogene Neighboring gene microRNA 320c-2 Neighboring gene impact RWD domain protein Neighboring gene histamine receptor H4

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

NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of oxysterol binding protein-like 1A (OSBPL1A) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10217

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 
phospholipid binding NAS
Non-traceable Author Statement
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
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
cholesterol metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
sterol transport IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
oxysterol-binding protein-related protein 1
Names
OSBP-related protein 1
oxysterol binding protein-like 1B
oxysterol-binding protein-related protein 1 variant 1
oxysterol-binding protein-related protein 1 variant 2

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.

Genomic

  1. NG_029432.1 RefSeqGene

    Range
    5046..240818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242508.1NP_001229437.1  oxysterol-binding protein-related protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001229437.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as OSBPL1C) lacks multiple exons from the 5' end and has an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 2. The resulting isoform (3, also known as C) has a shorter N-terminus, and it lacks ankyrin repeats and the pleckstrin homology domain, but contains the sterol-binding domain, compared to isoform 2.
    Source sequence(s)
    AF274714, AK301862
    Consensus CDS
    CCDS56056.1
    UniProtKB/Swiss-Prot
    Q9BXW6
    Related
    ENSP00000349545.4, ENST00000357041.8
    Conserved Domains (1) summary
    pfam01237
    Location:166552
    Oxysterol_BP; Oxysterol-binding protein
  2. NM_018030.4NP_060500.3  oxysterol-binding protein-related protein 1 isoform 1

    See identical proteins and their annotated locations for NP_060500.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as ORP1S or OSBPL1A) lacks multiple exons from the 5' end and has an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 2. The resulting isoform (1, also known as A) is the shortest. It lacks N-terminal ankyrin repeats and the pleckstrin homology domain, but contains the C-terminal sterol-binding domain, compared to isoform 2. Isoform 1 can bind to phospholipids but not to 25-hydroxycholesterol. It localizes to the cytosol and may function in the regulation of vesicle transport. Unlike the widespread expression of variant 2, the expression of this variant (1) appears to be limited to brain, retina, and retinal pigment epithelium/choroid tissue.
    Source sequence(s)
    AF274714
    Consensus CDS
    CCDS11885.1
    UniProtKB/Swiss-Prot
    Q9BXW6
    UniProtKB/TrEMBL
    Q6GSK5
    Related
    ENSP00000382372.3, ENST00000399443.7
    Conserved Domains (1) summary
    pfam01237
    Location:35421
    Oxysterol_BP; Oxysterol-binding protein
  3. NM_080597.4NP_542164.2  oxysterol-binding protein-related protein 1 isoform 2

    See identical proteins and their annotated locations for NP_542164.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as ORP1L or OSBPL1B) encodes the longest isoform (2, also known as B). Isoform 2 contains three ankyrin repeats, a pleckstrin homology domain and a sterol-binding domain. Unlike the tissue-specific expression of variant 1, this variant is widely expressed.
    Source sequence(s)
    AF274714, AK096358, BC136452
    Consensus CDS
    CCDS11884.1
    UniProtKB/Swiss-Prot
    Q9BXW6
    UniProtKB/TrEMBL
    B0YJ56, B3KU11
    Related
    ENSP00000320291.3, ENST00000319481.8
    Conserved Domains (6) summary
    cd00204
    Location:43196
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13285
    Location:229352
    PH_ORP1; Human Oxysterol binding protein related protein 1 Pleckstrin homology (PH) domain
    pfam01237
    Location:548934
    Oxysterol_BP; Oxysterol-binding protein
    pfam12796
    Location:10111
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:160216
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:4378
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    24162045..24397882 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722380.3XP_006722443.1  oxysterol-binding protein-related protein 1 isoform X2

    Conserved Domains (6) summary
    cd00204
    Location:43201
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13285
    Location:204327
    PH_ORP1; Human Oxysterol binding protein related protein 1 Pleckstrin homology (PH) domain
    pfam01237
    Location:523909
    Oxysterol_BP; Oxysterol-binding protein
    pfam12796
    Location:1065
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:135191
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:43148
    ANK; ANK repeat [structural motif]
  2. XM_017025530.1XP_016881019.1  oxysterol-binding protein-related protein 1 isoform X1

  3. XM_006722382.4XP_006722445.1  oxysterol-binding protein-related protein 1 isoform X4

    Conserved Domains (6) summary
    cd00204
    Location:43196
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13285
    Location:229352
    PH_ORP1; Human Oxysterol binding protein related protein 1 Pleckstrin homology (PH) domain
    pfam01237
    Location:572889
    Oxysterol_BP; Oxysterol-binding protein
    pfam12796
    Location:10111
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:160216
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:4378
    ANK; ANK repeat [structural motif]
  4. XM_017025531.2XP_016881020.1  oxysterol-binding protein-related protein 1 isoform X3

    Conserved Domains (6) summary
    cd00204
    Location:43196
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13285
    Location:229352
    PH_ORP1; Human Oxysterol binding protein related protein 1 Pleckstrin homology (PH) domain
    pfam01237
    Location:548873
    Oxysterol_BP; Oxysterol-binding protein
    pfam12796
    Location:10111
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:160216
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:4378
    ANK; ANK repeat [structural motif]
  5. XM_017025533.2XP_016881022.1  oxysterol-binding protein-related protein 1 isoform X6

    UniProtKB/Swiss-Prot
    Q9BXW6
    UniProtKB/TrEMBL
    Q6GSK5
    Conserved Domains (1) summary
    pfam01237
    Location:35421
    Oxysterol_BP; Oxysterol-binding protein
  6. XM_017025532.1XP_016881021.1  oxysterol-binding protein-related protein 1 isoform X5

    Conserved Domains (5) summary
    cd00204
    Location:43196
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13285
    Location:229352
    PH_ORP1; Human Oxysterol binding protein related protein 1 Pleckstrin homology (PH) domain
    pfam12796
    Location:10111
    Ank_2; Ankyrin repeats (3 copies)
    pfam13857
    Location:160216
    Ank_5; Ankyrin repeats (many copies)
    sd00045
    Location:4378
    ANK; ANK repeat [structural motif]

RNA

  1. XR_001753139.2 RNA Sequence

  2. XR_002958162.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_133268.1: Suppressed sequence

    Description
    NM_133268.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
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