OSBPL1A

Protein-coding gene in the species Homo sapiens
OSBPL1A
Identifiers
AliasesOSBPL1A, ORP-1, ORP1, OSBPL1B, oxysterol binding protein like 1A
External IDsOMIM: 606730; MGI: 1927551; HomoloGene: 84746; GeneCards: OSBPL1A; OMA:OSBPL1A - orthologs
Gene location (Human)
Chromosome 18 (human)
Chr.Chromosome 18 (human)[1]
Chromosome 18 (human)
Genomic location for OSBPL1A
Genomic location for OSBPL1A
Band18q11.2Start24,162,045 bp[1]
End24,397,880 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for OSBPL1A
Genomic location for OSBPL1A
Band18|18 A1Start12,888,371 bp[2]
End13,074,898 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • corpus callosum

  • internal globus pallidus

  • inferior ganglion of vagus nerve

  • postcentral gyrus

  • external globus pallidus

  • subthalamic nucleus

  • pons

  • pars reticulata

  • lateral nuclear group of thalamus

  • occipital lobe
Top expressed in
  • prefrontal cortex

  • deep cerebellar nuclei

  • barrel cortex

  • medial geniculate nucleus

  • primary motor cortex

  • medial dorsal nucleus

  • pontine nuclei

  • lateral geniculate nucleus

  • medial vestibular nucleus

  • olfactory epithelium
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
SpeciesHumanMouse
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 MbChr 18: 12.89 – 13.07 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141447 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000044252 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: OSBPL1A oxysterol binding protein-like 1A".

Further reading

  • 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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