OSBPL1A

OSBPL1A

Identifiers

OSBPL1A, ORP-1, ORP1, OSBPL1B, oxysterol binding protein like 1A

External IDs

OMIM: 606730 MGI: 1927551 HomoloGene: 84746 GeneCards: OSBPL1A

Gene location (Human)

Chr.	Chromosome 18 (human)^[1]

Band	18q11.2	Start	24,162,045 bp^[1]
Band	18q11.2	End	24,397,880 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 18 (mouse)^[2]

Band	18\|18 A1	Start	12,888,371 bp^[2]
Band	18\|18 A1	End	13,074,898 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

corpus callosum

internal globus pallidus

inferior ganglion of vagus nerve

postcentral gyrus

external globus pallidus

subthalamic nucleus

pons

occipital lobe

entorhinal cortex

prefrontal cortex

Top expressed in

prefrontal cortex

barrel cortex

medial geniculate nucleus

primary motor cortex

medial dorsal nucleus

pontine nuclei

lateral geniculate nucleus

medial vestibular nucleus

olfactory epithelium

globus pallidus

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	cholesterol binding protein binding phospholipid binding lipid binding sterol transporter activity sterol binding
Cellular component	endosome late endosome intracellular anatomical structure extracellular exosome cytosol membrane intracellular membrane-bounded organelle
Biological process	lipid transport cholesterol metabolic process antigen processing and presentation of exogenous peptide antigen via MHC class II vesicle-mediated transport bile acid biosynthetic process sterol transport transport
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


114876


64291

Ensembl


ENSG00000141447


ENSMUSG00000044252

UniProt


Q9BXW6


Q91XL9

RefSeq (mRNA)


NM_001242508 NM_018030 NM_080597 NM_133268

NM_001252489 NM_001252490 NM_001252491 NM_001252492 NM_001252493
NM_020573 NM_207530

RefSeq (protein)


NP_001229437 NP_060500 NP_542164

NP_001239418 NP_001239419 NP_001239420 NP_001239421 NP_001239422
NP_997413

Location (UCSC)

Chr 18: 24.16 – 24.4 Mb

Chr 18: 12.89 – 13.07 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Oxysterol-binding protein-related protein 1 is a protein that in humans is encoded by the OSBPL1A gene.^[5]^[6]^[7]

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.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000141447 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000044252 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Xu Y, Liu Y, Ridgway ND, McMaster CR (May 2001). "Novel members of the human oxysterol-binding protein family bind phospholipids and regulate vesicle transport". J Biol Chem. 276 (21): 18407–14. doi:10.1074/jbc.M101204200. PMID 11279184.
^ Laitinen S, Olkkonen VM, Ehnholm C, Ikonen E (Feb 2000). "Family of human oxysterol binding protein (OSBP) homologues. A novel member implicated in brain sterol metabolism". J Lipid Res. 40 (12): 2204–11. doi:10.1016/S0022-2275(20)32095-2. PMID 10588946.
^ ^a ^b "Entrez Gene: OSBPL1A oxysterol binding protein-like 1A".

Lehto M, Laitinen S, Chinetti G, et al. (2001). "The OSBP-related protein family in humans". J. Lipid Res. 42 (8): 1203–13. doi:10.1016/S0022-2275(20)31570-4. PMID 11483621.
Jaworski CJ, Moreira E, Li A, et al. (2002). "A family of 12 human genes containing oxysterol-binding domains". Genomics. 78 (3): 185–96. doi:10.1006/geno.2001.6663. PMID 11735225.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Johansson M, Bocher V, Lehto M, et al. (2004). "The two variants of oxysterol binding protein-related protein-1 display different tissue expression patterns, have different intracellular localization, and are functionally distinct". Mol. Biol. Cell. 14 (3): 903–15. doi:10.1091/mbc.E02-08-0459. PMC 151568. PMID 12631712.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Johansson M, Lehto M, Tanhuanpää K, et al. (2006). "The oxysterol-binding protein homologue ORP1L interacts with Rab7 and alters functional properties of late endocytic compartments". Mol. Biol. Cell. 16 (12): 5480–92. doi:10.1091/mbc.E05-03-0189. PMC 1289395. PMID 16176980.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

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This page was last edited on 4 March 2023, at 11:20

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References

Further reading