OSBPL10

gene
On this page

Summary

OSBPL10 (oxysterol binding protein like 10, HGNC:16395) is a protein-coding gene on chromosome 3p23, encoding Oxysterol-binding protein-related protein 10 (Q9BXB5). Probable lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane.

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 114884 — RefSeq curated summary.

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 214 total
  • MANE Select transcript: NM_017784

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:16395
Approved symbolOSBPL10
Nameoxysterol binding protein like 10
Location3p23
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000144645
Ensembl biotypeprotein_coding
OMIM606738
Entrez114884

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 12 protein_coding_CDS_not_defined, 10 protein_coding, 2 retained_intron

ENST00000396556, ENST00000428241, ENST00000429492, ENST00000438237, ENST00000452791, ENST00000463504, ENST00000465626, ENST00000466604, ENST00000467598, ENST00000467647, ENST00000467955, ENST00000469557, ENST00000472175, ENST00000479173, ENST00000479396, ENST00000480671, ENST00000485205, ENST00000490009, ENST00000673388, ENST00000698199, ENST00000911815, ENST00000911816, ENST00000959571, ENST00000959572

RefSeq mRNA: 2 — MANE Select: NM_017784 NM_001174060, NM_017784

CCDS: CCDS2651, CCDS54559

Canonical transcript exons

ENST00000396556 — 12 exons

ExonStartEnd
ENSE000015254463166082531662116
ENSE000015254473198089931981262
ENSE000017247483168363431684114
ENSE000017371893166407931664232
ENSE000017464423166864231668824
ENSE000017591983167079731670983
ENSE000034981723170235931702508
ENSE000035006073187643331876512
ENSE000035253323174791031748120
ENSE000035797363183004031830231
ENSE000035815253187965531879830
ENSE000037911793173325731733411

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 97.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2551 / max 176.4356, expressed in 1385 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter IDTPM avgSamples expressed
415855.60161321
415901.6333562
415880.2994122
415860.170484
415890.158280
415830.149155
415870.133567
415810.03198
415820.02706
415780.01903

Top tissues by expression

281 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
secondary oocyteCL:000065597.19gold quality
oocyteCL:000002396.99gold quality
right testisUBERON:000453495.06gold quality
left testisUBERON:000453395.00gold quality
saphenous veinUBERON:000731894.65gold quality
deciduaUBERON:000245094.41gold quality
testisUBERON:000047393.24gold quality
palpebral conjunctivaUBERON:000181292.83gold quality
colonic epitheliumUBERON:000039792.29gold quality
cauda epididymisUBERON:000436092.15gold quality
epithelium of nasopharynxUBERON:000195191.39gold quality
mucosa of urinary bladderUBERON:000125991.37gold quality
superficial temporal arteryUBERON:000161491.31gold quality
pigmented layer of retinaUBERON:000178291.29gold quality
tongue squamous epitheliumUBERON:000691991.13silver quality
esophagus squamous epitheliumUBERON:000692090.91gold quality
urinary bladderUBERON:000125590.90gold quality
nephron tubuleUBERON:000123190.55gold quality
epithelium of esophagusUBERON:000197690.52gold quality
renal glomerulusUBERON:000007490.46gold quality
placentaUBERON:000198790.44gold quality
metanephric glomerulusUBERON:000473690.25gold quality
hair follicleUBERON:000207389.79silver quality
mucosa of paranasal sinusUBERON:000503089.27gold quality
tonsilUBERON:000237288.93gold quality
squamous epitheliumUBERON:000691488.28gold quality
gingival epitheliumUBERON:000194987.59gold quality
amniotic fluidUBERON:000017387.48gold quality
urethraUBERON:000005787.41gold quality
gingivaUBERON:000182887.41gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-CURD-119yes29.00
E-ANND-3yes9.42
E-ENAD-27yes4.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

131 targeting OSBPL10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-574-5P100.0066.01989
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-511-3P99.9968.851467
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-548P99.9872.253784
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-569699.9872.364487
HSA-MIR-548AN99.9770.912817
HSA-MIR-314899.9775.066478
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-128-3P99.9571.172484
HSA-MIR-216A-3P99.9571.192505
HSA-MIR-96-5P99.9572.802140
HSA-MIR-545-3P99.9570.742783
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AQ-3P99.9372.664867

Literature-anchored findings (GeneRIF, showing 6)

  • Analysis of variants in three genes encoding OSBP homologues in families with familial low high-density lipoprotein levels or familial combined hyperlipidemia revealed linkage of OSBPL10 single-nucleotide polymorphisms with high triglyceride trait. (PMID:19554302)
  • Overall, the rs2290532 (D254N) polymorphism in OSBPL10 may predispose individuals to hyper-LDL cholesterolemia. (PMID:20224571)
  • Single-nucleotide polymorphisms in OSBPL10 is associated with peripheral arterial disease. (PMID:20610895)
  • Data indicate that the apoB-100 secretion phenotype is replicated in HepG2 cells transduced with the ORP10 shRNA lentiviruses. (PMID:22906437)
  • findings reveal that circOSBPL10 may serve as a new proliferation factor and prognostic marker in gastric cancer (PMID:31409903)
  • PI4P/PS countertransport by ORP10 at ER-endosome membrane contact sites regulates endosome fission. (PMID:34817532)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_rerioosbpl10bENSDARG00000040027
danio_rerioENSDARG00000099747
mus_musculusOsbpl10ENSMUSG00000040875
rattus_norvegicusOsbpl10ENSRNOG00000011435
drosophila_melanogasterCG3860FBGN0034951
caenorhabditis_elegansWBGENE00008832

Paralogs (11): OSBPL7 (ENSG00000006025), OSBPL5 (ENSG00000021762), OSBPL3 (ENSG00000070882), OSBPL6 (ENSG00000079156), OSBPL8 (ENSG00000091039), OSBP (ENSG00000110048), OSBPL9 (ENSG00000117859), OSBPL2 (ENSG00000130703), OSBPL1A (ENSG00000141447), OSBPL11 (ENSG00000144909), OSBP2 (ENSG00000184792)

Protein

Protein identifiers

Oxysterol-binding protein-related protein 10Q9BXB5 (reviewed: Q9BXB5)

All UniProt accessions (5): Q9BXB5, A0A5F9ZH75, A0A8V8TM06, H7C199, H7C487

UniProt curated annotations — full annotation on UniProt →

Function. Probable lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane. Its ability to bind phosphatidylserine, suggests that it specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P. Plays a role in negative regulation of lipid biosynthesis. Negatively regulates APOB secretion from hepatocytes. Binds cholesterol and acidic phospholipids. Also binds 25-hydroxycholesterol. Binds phosphatidylserine.

Subunit / interactions. Interacts with OSBPL9. Interacts with DIAPH1.

Subcellular location. Cytoplasm. Cytoskeleton.

Domain organisation. The C-terminal region binds cholesterol, 25-hydroxysterol and acidic phospholipids and is required for localization to microtubules. The PH domain selectively interacts with phosphatidylinositol-4-phosphate.

Polymorphism. Polymorphisms are associated with dyslipidemia. Variant Asn-254 is associated with LDL-cholesterol levels in Japanese population. Association with peripheral arterial disease has also been observed.

Similarity. Belongs to the OSBP family.

Isoforms (2)

UniProt IDNamesCanonical?
Q9BXB5-11yes
Q9BXB5-22

RefSeq proteins (2): NP_001167531, NP_060254* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000648Oxysterol-bdFamily
IPR001849PH_domainDomain
IPR011993PH-like_dom_sfHomologous_superfamily
IPR018494Oxysterol-bd_CSConserved_site
IPR037239OSBP_sfHomologous_superfamily
IPR041680PH_8Domain

Pfam: PF01237, PF15409

UniProt features (33 total): modified residue 10, binding site 9, compositionally biased region 5, region of interest 4, chain 1, domain 1, splice variant 1, sequence variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9BXB5-F175.030.47

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (9): 413–418; 413–418; 477–480; 480; 535–536; 561; 721; 725; 729

Post-translational modifications (10): 29, 30, 38, 57, 60, 64, 196, 201, 209, 223

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-1482801Acyl chain remodelling of PS

MSigDB gene sets: 186 (showing top): GOBP_PHOSPHATIDYLSERINE_ACYL_CHAIN_REMODELING, SHEPARD_BMYB_MORPHOLINO_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, TTTGTAG_MIR520D, MODULE_511, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, MODULE_453, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, CAGCTG_AP4_Q5, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_LIPID_HOMEOSTASIS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS

GO Biological Process (5): phosphatidylserine acyl-chain remodeling (GO:0036150), intermembrane lipid transfer (GO:0120009), lipid metabolic process (GO:0006629), lipid transport (GO:0006869), phospholipid transport (GO:0015914)

GO Molecular Function (6): phosphatidylserine binding (GO:0001786), obsolete phospholipid transporter activity (GO:0005548), cholesterol binding (GO:0015485), lipid carrier activity (GO:0005319), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (5): cytosol (GO:0005829), cytoskeleton (GO:0005856), membrane (GO:0016020), transporter complex (GO:1990351), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Glycerophospholipid biosynthesis1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
lipid transport2
binding2
phosphatidylserine metabolic process1
membrane organization1
primary metabolic process1
transport1
lipid localization1
organophosphate ester transport1
phospholipid binding1
anion binding1
modified amino acid binding1
sterol binding1
alcohol binding1
molecular carrier activity1
cytoplasm1
intracellular membraneless organelle1
protein-containing complex1
intracellular anatomical structure1

Protein interactions and networks

STRING

1042 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
OSBPL10PLEK2Q9NYT0615
OSBPL10PLEKP08567603
OSBPL10APOBP04114528
OSBPL10ZNF860A6NHJ4507
OSBPL10NIBAN1Q9BZQ8479
OSBPL10RXRAP19793478
OSBPL10OSBPP22059473
OSBPL10OSBP2Q969R2459
OSBPL10PIK3AP1Q6ZUJ8430
OSBPL10OGDHLQ9ULD0427
OSBPL10ACTC1P04270415
OSBPL10VAPAQ9P0L0402
OSBPL10ANKRD22Q5VYY1392
OSBPL10STT3BQ8TCJ2390
OSBPL10GADL1Q6ZQY3386

IntAct

48 interactions, top by confidence:

ABTypeScore
OSBPL9VAPBpsi-mi:“MI:0914”(association)0.790
VAPBFAM83Gpsi-mi:“MI:0914”(association)0.730
OSBPL11VAPBpsi-mi:“MI:0914”(association)0.730
VAPAFAM83Gpsi-mi:“MI:0914”(association)0.640
VAPAPITPNM1psi-mi:“MI:0914”(association)0.640
OSBPL10OSBPL9psi-mi:“MI:0915”(physical association)0.630
OSBPL10psi-mi:“MI:0915”(physical association)0.560
YWHAGSHTN1psi-mi:“MI:0914”(association)0.560
HSPB8VWA8psi-mi:“MI:0914”(association)0.530
OSBPL10psi-mi:“MI:0407”(direct interaction)0.440
PCNTOSBPL10psi-mi:“MI:0915”(physical association)0.400
OSBPL10psi-mi:“MI:0915”(physical association)0.400
IKBKGOSBPL10psi-mi:“MI:0915”(physical association)0.370
VAPApsi-mi:“MI:0914”(association)0.350
Tgs1EFCAB5psi-mi:“MI:0914”(association)0.350
VAPAFAM83Gpsi-mi:“MI:0914”(association)0.350

BioGRID (77): OSBPL10 (Affinity Capture-MS), OSBPL10 (Affinity Capture-MS), OSBPL10 (Affinity Capture-MS), OSBPL10 (Affinity Capture-MS), OSBPL10 (Affinity Capture-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Affinity Capture-RNA), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS), OSBPL10 (Proximity Label-MS)

ESM2 similar proteins: A2AHJ4, A4IID4, A9JRL3, A9X1A0, B0KWC1, B1MTG7, B2KI64, B2RQE8, B3EX61, B4UT09, G5EBH0, O00418, O00763, O02697, O02810, O08561, O08796, O08874, P25455, P48736, P70531, Q07139, Q28C33, Q49GP3, Q4U2V3, Q5R585, Q641K1, Q6DD21, Q6F6B3, Q6GN16, Q6NRE7, Q6PCL9, Q80X66, Q86X55, Q8BKC8, Q8BPM2, Q8CI95, Q8IVH8, Q924I2, Q99JP0

Diamond homologs: A0A2Z4HQ03, A2A8Z1, B9EJ86, O43021, O74178, O80866, P0C199, P35844, P38755, Q02201, Q0IJ05, Q54NM4, Q5M7Y0, Q5R6M6, Q5R9W4, Q6NRZ4, Q6P3Q6, Q6VVX2, Q86KG4, Q8BX94, Q8CI95, Q96SU4, Q9BXB4, Q9BXB5, Q9BZF1, Q9EQG9, Q9ER64, Q9GKI7, Q9H0X9, Q9H1P3, Q9UUA1, Q9UW21, Q9UW25, Q9Y5P4, S4R1M9, O94512, Q12451, Q54PS9, Q8S8P9, Q9SVZ9

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

214 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance179
Likely benign14
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

4421 predictions. Top by Δscore:

VariantEffectΔscore
3:31664074:GTTA:Gdonor_loss1.0000
3:31664075:TTAC:Tdonor_loss1.0000
3:31664076:TACCT:Tdonor_loss1.0000
3:31664077:A:Tdonor_loss1.0000
3:31664077:ACCT:Adonor_gain1.0000
3:31664078:C:Gdonor_loss1.0000
3:31664078:CCTC:Cdonor_gain1.0000
3:31664080:T:TAdonor_gain1.0000
3:31664102:T:TAdonor_gain1.0000
3:31664103:C:Adonor_gain1.0000
3:31664129:T:TAdonor_gain1.0000
3:31664228:GGTTC:Gacceptor_gain1.0000
3:31664229:GTTCC:Gacceptor_loss1.0000
3:31664230:TTC:Tacceptor_gain1.0000
3:31664230:TTCCT:Tacceptor_loss1.0000
3:31664231:TC:Tacceptor_gain1.0000
3:31664231:TCC:Tacceptor_loss1.0000
3:31664232:CC:Cacceptor_gain1.0000
3:31664232:CCTGG:Cacceptor_loss1.0000
3:31664233:C:Aacceptor_loss1.0000
3:31664233:C:CCacceptor_gain1.0000
3:31664234:T:Aacceptor_loss1.0000
3:31664239:A:ACacceptor_gain1.0000
3:31664239:A:Cacceptor_gain1.0000
3:31664242:C:CTacceptor_gain1.0000
3:31664243:G:Cacceptor_gain1.0000
3:31670987:C:CTacceptor_gain1.0000
3:31670987:C:Tacceptor_gain1.0000
3:31670988:A:Tacceptor_gain1.0000
3:31702354:CCTA:Cdonor_loss1.0000

AlphaMissense

4994 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
3:31664166:C:AK721N1.000
3:31664166:C:GK721N1.000
3:31668763:A:GW659R1.000
3:31668763:A:TW659R1.000
3:31668822:A:TV639D1.000
3:31670920:C:GR597P1.000
3:31683672:A:GF563S1.000
3:31702366:A:GL413S1.000
3:31702384:A:GL407P1.000
3:31980899:C:AR94M1.000
3:31980909:A:GW91R1.000
3:31980909:A:TW91R1.000
3:31664179:G:TA717D0.999
3:31664203:A:GL709P0.999
3:31664223:C:AW702C0.999
3:31664223:C:GW702C0.999
3:31664225:A:GW702R0.999
3:31664225:A:TW702R0.999
3:31668645:G:AS698F0.999
3:31668761:C:AW659C0.999
3:31668761:C:GW659C0.999
3:31668762:C:GW659S0.999
3:31668768:C:TG657E0.999
3:31668817:C:GA641P0.999
3:31670833:A:GF626S0.999
3:31670914:A:GI599T0.999
3:31670914:A:TI599N0.999
3:31670918:A:GS598P0.999
3:31670923:G:TA596D0.999
3:31670929:G:TA594D0.999

dbSNP variants (sampled 300 via entrez): RS1000003050 (3:32065775 G>T), RS1000028738 (3:32045909 G>T), RS1000035986 (3:32000455 A>G), RS1000036916 (3:31834429 C>T), RS1000060348 (3:32008690 C>A,T), RS1000061168 (3:31942154 A>G), RS1000062644 (3:31759176 T>C), RS1000078867 (3:31912118 G>A,C), RS1000091764 (3:31759454 T>C), RS1000097830 (3:31928941 T>C), RS1000123592 (3:31951699 T>C), RS1000124234 (3:31688728 C>A), RS1000128097 (3:32024415 T>C), RS1000138677 (3:31854218 G>C), RS1000140196 (3:31834942 T>A)

Disease associations

OMIM: gene MIM:606738 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

StudyTraitp-value
GCST000720_2Peripheral artery disease5.000000e-07
GCST002312_8Periodontal disease-related phenotype (Socransky)6.000000e-06
GCST009364_27Triglyceride levels x long total sleep time interaction (2df test)8.000000e-10
GCST012174_1Diabetic retinopathy in type 2 diabetes7.000000e-10

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004530triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

48 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression9
trichostatin Aincreases expression, affects cotreatment3
sodium arseniteincreases expression, decreases expression, affects cotreatment, increases abundance3
Benzo(a)pyreneaffects methylation, increases expression3
Tetrachlorodibenzodioxinincreases expression3
entinostatincreases expression, affects cotreatment2
Vorinostataffects cotreatment, increases expression2
Panobinostataffects cotreatment, increases expression2
Acetaminophenincreases expression2
Cisplatinaffects expression, decreases expression2
Doxorubicindecreases expression, affects response to substance2
Phenylmercuric Acetateincreases expression, affects cotreatment2
Cyclosporineincreases expression2
Aflatoxin B1decreases methylation2
aristolochic acid Idecreases expression1
triphenyl phosphateaffects expression1
testosterone undecanoateaffects cotreatment, increases expression1
beta-lapachonedecreases expression, increases expression1
arseniteaffects binding, decreases reaction1
9,10-dihydro-9,10-dihydroxybenzo(a)pyreneincreases expression1
manganese chlorideincreases abundance, affects cotreatment, decreases expression1
ferrous chlorideincreases expression1
CGP 52608affects binding, increases reaction1
K 7174increases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideincreases expression, affects cotreatment1
dorsomorphinaffects cotreatment, increases expression1
Temozolomideincreases expression1
Decitabineaffects expression1
Sunitinibincreases expression1
Arsenicaffects cotreatment, decreases expression, increases abundance1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.