Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	114876
Gene name	Oxysterol binding protein like 1A
Gene symbol	OSBPL1A
Synonyms (NCBI Gene)	ORP-1ORP1OSBPL1B
Chromosome	18
Chromosome location	18q11.2
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019536	hsa-miR-340-5p	Sequencing	20371350
MIRT021270	hsa-miR-146a-5p	Microarray	18057241
MIRT030733	hsa-miR-21-5p	Microarray	18591254
MIRT544895	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT544896	hsa-miR-5003-3p	PAR-CLIP	21572407
MIRT544894	hsa-miR-3938	PAR-CLIP	21572407
MIRT544893	hsa-miR-6777-3p	PAR-CLIP	21572407
MIRT544892	hsa-miR-4301	PAR-CLIP	21572407
MIRT544891	hsa-miR-6731-3p	PAR-CLIP	21572407
MIRT544890	hsa-miR-188-3p	PAR-CLIP	21572407
MIRT544889	hsa-miR-1260a	PAR-CLIP	21572407
MIRT544888	hsa-miR-1260b	PAR-CLIP	21572407
MIRT544887	hsa-miR-3156-3p	PAR-CLIP	21572407
MIRT544895	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT544896	hsa-miR-5003-3p	PAR-CLIP	21572407
MIRT544894	hsa-miR-3938	PAR-CLIP	21572407
MIRT544893	hsa-miR-6777-3p	PAR-CLIP	21572407
MIRT544892	hsa-miR-4301	PAR-CLIP	21572407
MIRT544891	hsa-miR-6731-3p	PAR-CLIP	21572407
MIRT544890	hsa-miR-188-3p	PAR-CLIP	21572407
MIRT544889	hsa-miR-1260a	PAR-CLIP	21572407
MIRT544888	hsa-miR-1260b	PAR-CLIP	21572407
MIRT544887	hsa-miR-3156-3p	PAR-CLIP	21572407
MIRT1206108	hsa-miR-1261	CLIP-seq
MIRT1206109	hsa-miR-1262	CLIP-seq
MIRT1206110	hsa-miR-1293	CLIP-seq
MIRT1206111	hsa-miR-3120-3p	CLIP-seq
MIRT1206112	hsa-miR-3165	CLIP-seq
MIRT1206113	hsa-miR-3170	CLIP-seq
MIRT1206114	hsa-miR-3190	CLIP-seq
MIRT1206115	hsa-miR-3927	CLIP-seq
MIRT1206116	hsa-miR-4252	CLIP-seq
MIRT1206117	hsa-miR-4483	CLIP-seq
MIRT1206118	hsa-miR-4515	CLIP-seq
MIRT1206119	hsa-miR-4528	CLIP-seq
MIRT1206120	hsa-miR-4667-5p	CLIP-seq
MIRT1206121	hsa-miR-4668-3p	CLIP-seq
MIRT1206122	hsa-miR-4700-5p	CLIP-seq
MIRT1206123	hsa-miR-4701-3p	CLIP-seq
MIRT1206124	hsa-miR-4711-5p	CLIP-seq
MIRT1206125	hsa-miR-4795-5p	CLIP-seq
MIRT1206126	hsa-miR-622	CLIP-seq
MIRT1206127	hsa-miR-624	CLIP-seq
MIRT1206128	hsa-miR-637	CLIP-seq
MIRT1206129	hsa-miR-671-5p	CLIP-seq
MIRT1206130	hsa-miR-885-3p	CLIP-seq
MIRT1206131	hsa-miR-3163	CLIP-seq
MIRT1206132	hsa-miR-380	CLIP-seq
MIRT1206121	hsa-miR-4668-3p	CLIP-seq
MIRT2059370	hsa-miR-1323	CLIP-seq
MIRT2059371	hsa-miR-548o	CLIP-seq
MIRT2059372	hsa-miR-606	CLIP-seq
MIRT1206109	hsa-miR-1262	CLIP-seq
MIRT2287728	hsa-miR-203	CLIP-seq
MIRT2287729	hsa-miR-3147	CLIP-seq
MIRT2287730	hsa-miR-4425	CLIP-seq
MIRT1206123	hsa-miR-4701-3p	CLIP-seq
MIRT1206130	hsa-miR-885-3p	CLIP-seq
MIRT2391943	hsa-miR-320a	CLIP-seq
MIRT2391944	hsa-miR-320b	CLIP-seq
MIRT2391945	hsa-miR-320c	CLIP-seq
MIRT2391946	hsa-miR-320d	CLIP-seq
MIRT2391947	hsa-miR-4429	CLIP-seq
MIRT2391948	hsa-miR-561	CLIP-seq
MIRT2391949	hsa-miR-587	CLIP-seq
MIRT1206108	hsa-miR-1261	CLIP-seq
MIRT1206109	hsa-miR-1262	CLIP-seq
MIRT1206110	hsa-miR-1293	CLIP-seq
MIRT1206112	hsa-miR-3165	CLIP-seq
MIRT1206113	hsa-miR-3170	CLIP-seq
MIRT2585704	hsa-miR-3189-5p	CLIP-seq
MIRT2585705	hsa-miR-3192	CLIP-seq
MIRT2585706	hsa-miR-331-3p	CLIP-seq
MIRT2585707	hsa-miR-3658	CLIP-seq
MIRT2585708	hsa-miR-4264	CLIP-seq
MIRT2585709	hsa-miR-4292	CLIP-seq
MIRT2585710	hsa-miR-4300	CLIP-seq
MIRT2585711	hsa-miR-4426	CLIP-seq
MIRT1206117	hsa-miR-4483	CLIP-seq
MIRT2585712	hsa-miR-455-5p	CLIP-seq
MIRT2585713	hsa-miR-4647	CLIP-seq
MIRT2585714	hsa-miR-4662b	CLIP-seq
MIRT1206120	hsa-miR-4667-5p	CLIP-seq
MIRT1206122	hsa-miR-4700-5p	CLIP-seq
MIRT1206123	hsa-miR-4701-3p	CLIP-seq
MIRT2585715	hsa-miR-4747-3p	CLIP-seq
MIRT2585716	hsa-miR-4758-3p	CLIP-seq
MIRT2585717	hsa-miR-4797-3p	CLIP-seq
MIRT1206126	hsa-miR-622	CLIP-seq
MIRT1206128	hsa-miR-637	CLIP-seq
MIRT1206130	hsa-miR-885-3p	CLIP-seq
MIRT2585718	hsa-miR-920	CLIP-seq
MIRT2686876	hsa-miR-183	CLIP-seq
MIRT2686877	hsa-miR-2277-3p	CLIP-seq
MIRT1206111	hsa-miR-3120-3p	CLIP-seq
MIRT2686878	hsa-miR-3122	CLIP-seq
MIRT2391943	hsa-miR-320a	CLIP-seq
MIRT2391944	hsa-miR-320b	CLIP-seq
MIRT2391945	hsa-miR-320c	CLIP-seq
MIRT2391946	hsa-miR-320d	CLIP-seq
MIRT2686879	hsa-miR-331-5p	CLIP-seq
MIRT2686880	hsa-miR-3913-5p	CLIP-seq
MIRT2686881	hsa-miR-4272	CLIP-seq
MIRT2686882	hsa-miR-4422	CLIP-seq
MIRT2391947	hsa-miR-4429	CLIP-seq
MIRT2686883	hsa-miR-450b-3p	CLIP-seq
MIRT2686884	hsa-miR-4678	CLIP-seq
MIRT2686885	hsa-miR-4698	CLIP-seq
MIRT2686886	hsa-miR-548c-3p	CLIP-seq
MIRT2391948	hsa-miR-561	CLIP-seq
MIRT2391949	hsa-miR-587	CLIP-seq
MIRT2686887	hsa-miR-769-3p	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16176980, 28514442, 29858488, 30721249, 32296183, 33124732, 33961781
GO:0005543	Function	Phospholipid binding	NAS	11279184
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IDA	29858488
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	16176980
GO:0005770	Component	Late endosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008203	Process	Cholesterol metabolic process	NAS	10588946
GO:0008289	Function	Lipid binding	IEA
GO:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	17428193
GO:0015485	Function	Cholesterol binding	IEA
GO:0015918	Process	Sterol transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	11279184
GO:0044232	Component	Organelle membrane contact site	IDA	29858488
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097038	Component	Perinuclear endoplasmic reticulum	IBA
GO:0120015	Function	Sterol transfer activity	IEA
GO:0120015	Function	Sterol transfer activity	TAS

MIM	HGNC	e!Ensembl
606730	16398	ENSG00000141447

Q9BXW6

Protein name

Oxysterol-binding protein-related protein 1 (ORP-1) (OSBP-related protein 1)

Protein function

Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic com

PDB

5ZM5 , 5ZM6 , 5ZM7 , 6IYB , 6TQS , 8ZQ3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	7 → 111	Ankyrin repeats (3 copies)	Repeat
PF13857	Ank_5	160 → 216		Repeat
PF01237	Oxysterol_BP	548 → 940	Oxysterol-binding protein	Family

Sequence

MNTEAEQQLLHHARNGNAEEVRQLLETMARNEVIADINCKGRSKSNLGWTPLHLACYFGH
RQVVQDLLKAGAEVNVLNDMGDTPLHRAAFTGRKELVMLLLEYNADTTIVNGSGQTAKEV
THAEEIRSMLEAVERTQQRKLEELLLAAAREGKTTELTALLNRPNPPDVNCSDQLGNTPL
HCAAYRAHKQCALKLLRSGADPNLKNKNDQKPLDLAQGAEMKHILVGNKVIYKALKRYEG
PLWKSSRFFGWRLFWVVLEHGVLSWYRKQPDAVHNIYRQGCKHLTQAVCTVKSTDSCLFF
IKCFDDTIHGFRVPKNSLQQSREDWLEAIEEHSAYSTHYCSQDQLTDEEEEDTVSAADLK
KSLEKAQSCQQRLDREISNFLKMIKECDMAKEMLPSFLQKVEVVSEASRETCVALTDCLN
LFTKQEGVRNFKLEQEQEKNKILSEALETLATEHHELEQSLVKGSPPASILSEDEFYDAL
SDSESERSLSRLEAVTARSFEEEGEHLGSRKHRMSEEKDCGGGDALSNGIKKHRTSLPSP
MFSRNDFSIWSILRKCIGMELSKITMPVIFNEPLSFLQRLTEYMEHTYLIHKASSLSDPV
ERMQCVAAFAVSAVASQWERTGKPFNPLLGETYELVRDDLGFRLISEQVSHHPPISAFHA
EGLNNDFIFHGSIYPKLKFWGKSVEAEPKGTITLELLEHNEAYTWTNPTCCVHNIIVGKL
WIEQYGNVEIINHKTGDKCVLNFKPCGLFGKELHKVEGYIQDKSKKKLCALYGKWTECLY
SVDPATFDAYKKNDKKNTEEKKNSKQMSTSEELDEMPVPDSESVFIIPGSVLLWRIAPRP
PNSAQMYNFTSFAMVLNEVDKDMESVIPKTDCRLRPDIRAMENGEIDQASEEKKRLEEKQ
RAARKNRSKSEEDWKTRWFHQGPNPYNGAQDWIYSGSYWDRNYFNLPDIY

Sequence length

950

Interactions

View interactions

	Reactome
			Synthesis of bile acids and bile salts MHC class II antigen presentation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER'S DISEASE NEUROPATHOLOGIC CHANGE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoma of large intestine	Colorectal adenoma	BEFREE	21999571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29039586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29039586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35919504	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21999571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	GWASCAT_DG	25188341		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	25483131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21999571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10588946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10588946	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23300848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	GWASDB_DG	20548944		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	GWASCAT_DG	20548944		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	23300848	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30271587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21999571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

OSBPL1A (oxysterol binding protein like 1A)