OSBPL1A (oxysterol binding protein like 1A)

2014-11-01 Affiliation

Identity

HGNC

OSBPL1A

LOCATION

18q11.2

LOCUSID

114876

ALIAS

ORP-1,ORP1,OSBPL1B

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 114876
MIM: 606730
HGNC: 16398
Ensembl: ENSG00000141447

Variants:

dbSNP: 114876
ClinVar: 114876
TCGA: ENSG00000141447
COSMIC: OSBPL1A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000141447	ENST00000319481	Q9BXW6
ENSG00000141447	ENST00000319481	B0YJ56
ENSG00000141447	ENST00000357041	Q9BXW6
ENSG00000141447	ENST00000399441	E7ER58
ENSG00000141447	ENST00000399443	Q9BXW6
ENSG00000141447	ENST00000399443	Q6GSK5
ENSG00000141447	ENST00000578013	J3QSB8
ENSG00000141447	ENST00000578055	J3KRT6
ENSG00000141447	ENST00000578091	J3KTA6
ENSG00000141447	ENST00000579851	J3QLA2
ENSG00000141447	ENST00000582645	J3KSG6
ENSG00000141447	ENST00000584119	J3QS61
ENSG00000141447	ENST00000638614	A0A1W2PRU5

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
MHC class II antigen presentation	REACTOME	R-HSA-2132295
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Bile acid and bile salt metabolism	REACTOME	R-HSA-194068
Synthesis of bile acids and bile salts	REACTOME	R-HSA-192105

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19564404	2009	Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7-RILP-p150 Glued and late endosome positioning.	195
20548944	2010	An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.	90
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
16176980	2005	The oxysterol-binding protein homologue ORP1L interacts with Rab7 and alters functional properties of late endocytic compartments.	61
27283760	2016	Cholesterol and ORP1L-mediated ER contact sites control autophagosome transport and fusion with the endocytic pathway.	41
18369178	2008	SNP-specific array-based allele-specific expression analysis.	34
28564600	2017	Oxysterol-Binding Protein-Related Protein 1L Regulates Cholesterol Egress from the Endo-Lysosomal System.	30
12631712	2003	The two variants of oxysterol binding protein-related protein-1 display different tissue expression patterns, have different intracellular localization, and are functionally distinct.	28
20690035	2011	Sterol binding by OSBP-related protein 1L regulates late endosome motility and function.	28
24025716	2013	Adenovirus RIDα uncovers a novel pathway requiring ORP1L for lipid droplet formation independent of NPC1.	16

Citation

Dessen P

OSBPL1A (oxysterol binding protein like 1A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71551/osbpl1a-(oxysterol-binding-protein-like-1a)