Gene Gene information from NCBI Gene database.
Entrez ID 5007
Gene name Oxysterol binding protein
Gene symbol OSBP
Synonyms (NCBI Gene)
OSBP1
Chromosome 11
Chromosome location 11q12.1
Summary Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1565117343 G>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
401
miRTarBase ID miRNA Experiments Reference
MIRT019139 hsa-miR-335-5p Microarray 18185580
MIRT023205 hsa-miR-124-3p Microarray 18668037
MIRT044025 hsa-miR-365a-3p CLASH 23622248
MIRT041032 hsa-miR-505-3p CLASH 23622248
MIRT490895 hsa-miR-6835-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 24209621
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 21566117, 21988961, 24209621, 25036637, 25681634, 26496610, 28514442, 29547901, 29997244, 32814053, 33961781, 35271311
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
167040 8503 ENSG00000110048
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22059
Protein name Oxysterol-binding protein 1
Protein function Lipid transporter involved in lipid countertransport between the Golgi complex and membranes of the endoplasmic reticulum: specifically exchanges sterol with phosphatidylinositol 4-phosphate (PI4P), delivering sterol to the Golgi in exchange for
PDB 2RR3 , 7V62
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 90 181 PH domain Domain
PF01237 Oxysterol_BP 418 793 Oxysterol-binding protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11278871}.
Sequence
MAATELRGVVGPGPAAIAALGGGGAGPPVVGGGGGRGDAGPGSGAASGTVVAAAAGGPGP
GAGGVAAAGPAPAPPTGGSGGSGAGGSGSAREGWLFKWTNYIKGYQRRWFVLSNGLLSYY
RSKAEMRHTCRGTINLATANITVEDSCNFIISNGGAQTYHLKASSEVERQRWVTALELAK
A
KAVKMLAESDESGDEESVSQTDKTELQNTLRTLSSKVEDLSTCNDLIAKHGTALQRSLS
ELESLKLPAESNEKIKQVNERATLFRITSNAMINACRDFLMLAQTHSKKWQKSLQYERDQ
RIRLEETLEQLAKQHNHLERAFRGATVLPANTPGNVGSGKDQCCSGKGDMSDEDDENEFF
DAPEIITMPENLGHKRTGSNISGASSDISLDEQYKHQLEETKKEKRTRIPYKPNYSLNLW
SIMKNCIGKELSKIPMPVNFNEPLSMLQRLTEDLEYHELLDRAAKCENSLEQLCYVAAFT
VSSYSTTVFRTSKPFNPLLGETFELDRLEENGYRSLCEQVSHHPPAAAHHAESKNGWTLR
QEIKITSKFRGKYLSIMPLGTIHCIFHATGHHYTWKKVTTTVHNIIVGKLWIDQSGEIDI
VNHKTGDKCNLKFVPYSYFSRDVARKVTGEVTDPSGKVHFALLGTWDEKMECFKVQPVIG
ENGGDARQRGHEAEESRVMLWKRNPLPKNAENMYYFSELALTLNAWESGTAPTDSRLRPD
QRLMENGRWDEANAEKQRLEEKQRLSRKKREAEAMKATEDGTPYDPYKALWFERKKDPVT
KELTHIYRGEYWE
CKEKQDWSSCPDIF
Sequence length 807
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Sphingolipid de novo biosynthesis
Synthesis of bile acids and bile salts
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Short stature Pathogenic rs1565117343 RCV000736214
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSBP-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 26812496
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder) Amyotrophic lateral sclerosis BEFREE 24271015
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 17478758
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 17478758
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 27588468
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma BEFREE 21763455
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Common Cold Common cold Pubtator 30209171 Associate
★☆☆☆☆
Found in Text Mining only
Hyperlipidemia, Familial Combined Hyperlipidemia BEFREE 19554302
★☆☆☆☆
Found in Text Mining only
Hypocholesterolemia Hypocholesterolemia BEFREE 28471037
★☆☆☆☆
Found in Text Mining only