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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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OSBPL1A
oxysterol binding protein like 1A
Chromosome 18 · 18q11.2
NCBI Gene: 114876Ensembl: ENSG00000141447.20HGNC: HGNC:16398UniProt: B0YJ56
59PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsterol sensor activitycholesterol homeostasislysosome to ER cholesterol transportsecondary malignant neoplasmotitis externaParaproteinemiaobesity
✦AI Summary

OSBPL1A encodes an oxysterol-binding protein that functions as a lipid transport and regulatory protein with diverse cellular roles. The protein binds multiple lipid species including phosphatidic acid, phosphatidylinositol 3-phosphate, 25-hydroxycholesterol, and cholesterol, facilitating intracellular lipid transport and homeostasis 1. OSBPL1A localizes to late endosomes/lysosomes through interaction with RAB7, where it regulates cholesterol efflux and the reverse cholesterol transport pathway 1. Loss-of-function mutations in OSBPL1A impair ABCA1-mediated cholesterol efflux to lipid-free apoA-I and are associated with low HDL-cholesterol levels, suggesting a critical role in HDL metabolism 1. The gene shows tissue-specific imprinted expression patterns in bovines, with isoform-specific monoallelic expression regulated by promoter methylation 2. Clinically, damaging variants in OSBPL1A are significantly enriched in individuals with hypoalphalipoproteinemia 3, and the gene has been implicated in various pathological conditions including ADHD symptom progression 4, premature ovarian insufficiency 5, and epilepsy pathogenesis through mitochondrial dysfunction pathways 6. These findings establish OSBPL1A as an important regulator of lipid metabolism with potential therapeutic implications.

Sources cited
1
OSBPL1A binds cholesterol and regulates cholesterol efflux through RAB7 interaction; loss-of-function mutations cause low HDL-cholesterol
PMID: 27105157
2
OSBPL1A shows isoform-specific imprinted expression regulated by promoter methylation
PMID: 35294861
3
Damaging OSBPL1A variants are enriched in individuals with hypoalphalipoproteinemia
PMID: 35460704
4
OSBPL1A is associated with ADHD symptom progression
PMID: 34891669
5
OSBPL1A is implicated in premature ovarian insufficiency pathogenesis
PMID: 41430255
6
OSBPL1A contributes to epilepsy pathogenesis through mitochondrial dysfunction pathways
PMID: 41810643
Disease Associationsⓘ20
secondary malignant neoplasmOpen Targets
0.25Weak
otitis externaOpen Targets
0.22Weak
ParaproteinemiaOpen Targets
0.21Weak
obesityOpen Targets
0.03Suggestive
cervical carcinomaOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
overnutritionOpen Targets
0.02Suggestive
urethral syndromeOpen Targets
0.02Suggestive
tuberculosisOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
large cell medulloblastomaOpen Targets
0.01Suggestive
medulloblastomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
breast carcinomaOpen Targets
0.01Suggestive
primitive neuroectodermal tumorOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAB7AProtein interaction98%MOSPD2Protein interaction96%VAPAProtein interaction86%VAPBProtein interaction74%RILPProtein interaction68%GRAMD1BShared pathway29%
Tissue Expression6 tissues
Brain
100%
Heart
61%
Bone Marrow
28%
Ovary
19%
Lung
15%
Liver
8%
Gene Interaction Network
Click a node to explore
OSBPL1ARAB7AMOSPD2VAPAVAPBRILPGRAMD1B
PROTEIN STRUCTURE
Preparing viewer…
PDB6IYB · 2.09 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.51–0.76]
RankingsWhere OSBPL1A stands among ~20K protein-coding genes
  • #7,796of 20,598
    Most Researched59
  • #6,106of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedOSBPL1A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ATM loss disrupts the autophagy-lysosomal pathway.
PMID: 32757690
Autophagy · 2021
1.00
2
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
PMID: 35460704
J Lipid Res · 2022
0.90
3
IMPACT and OSBPL1A are two isoform-specific imprinted genes in bovines.
PMID: 35294861
Theriogenology · 2022
0.80
4
Evaluating the Neuroimaging-Genetic Prediction of Symptom Changes in Individuals with ADHD.
PMID: 34891669
Annu Int Conf IEEE Eng Med Biol Soc · 2021
0.70
5
Inter-Species Host Gene Expression Differences in Response to Human and Avian Influenza A Virus Strains.
PMID: 29104227
Int J Mol Sci · 2017
0.60