| Name | pyridoxal phosphate binding protein |
| Description | This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPyridoxal 5′‐phosphate (PLP), the active form of vitamin B6, is an essential cofactor for a multitude of enzymes, particularly those involved in neurotransmitter metabolism. Studies on patients with pyridoxine‐dependent epilepsy have revealed that mutations in the gene encoding the PLP‐binding protein (known as PROSC or PLPBP) undermine intracellular PLP homeostasis. These mutations lower PLP levels in the brain while paradoxically resulting in its accumulation in cultured cells, thereby impairing PLP‐dependent enzyme activities and ultimately manifesting as seizures and other treatable neurological symptoms."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nStructural and functional analyses in organisms such as Synechococcus elongatus have provided additional insights into the mechanism of PLP regulation. The homologous protein PipY, which shares the type‐III TIM barrel fold typical of PLP enzymes, binds PLP in an exposed manner. This structural arrangement suggests a role in mediating PLP exchange and protecting intracellular components from the reactivity of free PLP, which further supports the connection between PipY function and the disease‐associated mutations in human PLPBP."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nComplementary cellular studies using PLPBP‐deficient human fibroblasts, HEK293 cells, and yeast models have demonstrated that a lack of functional PLPBP results in reduced intracellular PLP levels and an abnormal buildup of phosphorylated B6 vitamers. Such imbalances adversely affect mitochondrial transaminases and oxidative metabolism, highlighting the dual role of PLPBP in safely channeling PLP to apoenzymes while minimizing its potentially toxic reactivity. These findings provide key insights into the pathomechanisms underlying vitamin B6‐dependent epilepsy and broader metabolic disturbances arising from disrupted PLP homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Niklas Darin, Emma Reid, Laurence Prunetti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B"}, {"type": "a", "children": [{"type": "t", "text": "sub"}], "href": "sub"}, {"type": "t", "text": "6"}, {"type": "a", "children": [{"type": "t", "text": "/sub"}], "href": "/sub"}, {"type": "t", "text": "-Dependent Epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2016.10.011"}], "href": "https://doi.org/10.1016/j.ajhg.2016.10.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27912044"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27912044"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Barbara Plecko, Markus Zweier, Anaïs Begemann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Confirmation of mutations in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "PROSC"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " as a novel cause of vitamin B "}, {"type": "a", "children": [{"type": "t", "text": "sub"}], "href": "sub"}, {"type": "a", "children": [{"type": "t", "text": "sub"}], "href": "sub"}, {"type": "t", "text": "6"}, {"type": "a", "children": [{"type": "t", "text": "/sub"}], "href": "/sub"}, {"type": "a", "children": [{"type": "t", "text": "/sub"}], "href": "/sub"}, {"type": "t", "text": " -dependent epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2017-104521"}], "href": "https://doi.org/10.1136/jmedgenet-2017-104521"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28391250"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28391250"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Lorena Tremiño, Alicia Forcada-Nadal, Asunción Contreras, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Studies on cyanobacterial protein PipY shed light on structure, potential functions, and vitamin B"}, {"type": "a", "children": [{"type": "t", "text": "sub"}], "href": "sub"}, {"type": "t", "text": "6"}, {"type": "a", "children": [{"type": "t", "text": "/sub"}], "href": "/sub"}, {"type": "t", "text": " -dependent epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/1873-3468.12841"}], "href": "https://doi.org/10.1002/1873-3468.12841"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28914444"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28914444"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jolita Ciapaite, Carlo W T van Roermund, Marjolein Bosma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Maintenance of cellular vitamin B"}, {"type": "a", "children": [{"type": "t", "text": "sub"}], "href": "sub"}, {"type": "t", "text": "6"}, {"type": "a", "children": [{"type": "t", "text": "/sub"}], "href": "/sub"}, {"type": "t", "text": " levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jbc.2023.105047"}], "href": "https://doi.org/10.1016/j.jbc.2023.105047"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37451483"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37451483"}]}]}]}
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| NCBI Gene ID | 11212 |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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PLPBP has 2,591 functional associations with biological entities spanning 5 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 37 datasets.
Click the + buttons to view associations for PLPBP 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 PLPBP 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 PLPBP gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with PLPBP protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with PLPBP gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of PLPBP gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with PLPBP gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of PLPBP gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| CM4AI U2OS Cell Map Protein Localization Assemblies | assemblies containing PLPBP protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing PLPBP 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 PLPBP protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of PLPBP protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by PLPBP gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving PLPBP gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with PLPBP gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with PLPBP gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with PLPBP gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving PLPBP gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by PLPBP gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by PLPBP gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of PLPBP gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with PLPBP gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of PLPBP 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 PLPBP 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 PLPBP gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of PLPBP gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of PLPBP gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of PLPBP 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 PLPBP 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 PLPBP 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 PLPBP gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of PLPBP gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of PLPBP gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of PLPBP gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of PLPBP protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of PLPBP protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with PLPBP protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving PLPBP protein from the WikiPathways Pathways 2024 dataset. | |
