| Name | bridge-like lipid transfer protein family member 3B |
| Description | Enables GARP complex binding activity; lipid transfer activity; and protein homodimerization activity. Involved in early endosome to Golgi transport and intermembrane lipid transfer. Located in cytosol and early endosome. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nBLTP3B appears to be implicated as a candidate gene at a high myopia locus on chromosome 12q21-23, suggesting that variation in its sequence or expression might contribute to the genetic etiology of nearsightedness in affected individuals. Although this association is inferred from genetic linkage studies rather than a detailed biochemical mechanism, it highlights the potential relevance of BLTP3B to ocular developmental processes and pathology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "In cellular models of vesicular trafficking, a protein with similarities to BLTP3B has been characterized through its interactions with the SNARE machinery. Specifically, this protein interacts with the N-terminal Habc domain of Syntaxin 6 and is found to associate with tethering components such as the Golgi-associated retrograde protein (GARP) complex. These interactions affect the distribution of the protein to endosomal structures and can provoke changes in endosomal morphology, implying a regulatory role in membrane fusion and trafficking within the early/recycling endosomal system."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "Further structural and functional analysis indicates that BLTP3B-like proteins share properties with members of the VPS13 family, which are known to mediate bulk lipid transfer at membrane contact sites. This lipid transfer activity is crucial for maintaining the compositional balance of membranes as vesicles transit from the endocytic pathway to the Golgi complex. Disruption of this function perturbs the retrograde transport of membrane proteins—such as the cation-independent mannose-6-phosphate receptor—highlighting an essential role in ensuring proper membrane lipid homeostasis and intracellular trafficking."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Felicia Hawthorne, Sheng Feng, Ravikanth Metlapally, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.12-11102"}], "href": "https://doi.org/10.1167/iovs.12-11102"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23422819"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23422819"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Grant P Otto, Minoo Razi, Jöelle Morvan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel syntaxin 6-interacting protein, SHIP164, regulates syntaxin 6-dependent sorting from early endosomes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Traffic (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1600-0854.2010.01049.x"}], "href": "https://doi.org/10.1111/j.1600-0854.2010.01049.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20163565"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20163565"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Michael G Hanna, Patreece H Suen, Yumei Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SHIP164 is a chorein motif lipid transfer protein that controls endosome-Golgi membrane traffic."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.202111018"}], "href": "https://doi.org/10.1083/jcb.202111018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35499567"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35499567"}]}]}]}
|
| NCBI Gene ID | 23074 |
| API | |
| Download Associations | |
| Predicted Functions |
 |
| Co-expressed Genes |
|
| Expression in Tissues and Cell Lines |
|
BLTP3B has 1,892 functional associations with biological entities spanning 6 categories (chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 30 datasets.
Click the + buttons to view associations for BLTP3B from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of BLTP3B gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of BLTP3B gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with BLTP3B gene from the CellMarker Gene-Cell Type Associations dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of BLTP3B gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| CM4AI U2OS Cell Map Protein Localization Assemblies | assemblies containing BLTP3B protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing BLTP3B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing BLTP3B protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with BLTP3B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving BLTP3B gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing BLTP3B protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by BLTP3B gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of BLTP3B gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of BLTP3B gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of BLTP3B gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by BLTP3B gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of BLTP3B gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of BLTP3B gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of BLTP3B gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of BLTP3B gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| Reactome Pathways 2024 | pathways involving BLTP3B protein from the Reactome Pathways 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of BLTP3B gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of BLTP3B gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of BLTP3B gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of BLTP3B gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of BLTP3B gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of BLTP3B gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of BLTP3B gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of BLTP3B gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of BLTP3B protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with BLTP3B protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
