Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5007
Gene name Gene Name - the full gene name approved by the HGNC.
Oxysterol binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OSBP
Synonyms (NCBI Gene) Gene synonyms aliases
OSBP1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs1565117343 G>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 24209621
GO:0005515 Function Protein binding IPI 21566117, 21988961, 24209621, 25036637, 25681634, 26496610, 28514442, 29547901, 29997244, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus IDA
GO:0005737 Component Cytoplasm IDA 21988961
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
167040 8503 ENSG00000110048
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Unknown
Disease term Disease name Evidence References Source
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Common Cold Associate 30209171
Metabolic Syndrome Associate 19325544
Motor Neuron Disease Associate 20178991
Pulmonary Disease Chronic Obstructive Associate 30209171