{ "uniprot_canonical_ac": "O94903-1", "uniprot_ac": "O94903", "uniprot_id": "PLPHP_HUMAN", "mass": { "chemical_mass": 30344.0, "monoisotopic_mass": 30344.0 }, "refseq": { "ac": "NP_009129", "name": "pyridoxal phosphate homeostasis protein isoform 2", "summary": "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129" }, "gene_names": [ { "name": "PLPBP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94903", "id": "O94903" }, { "name": "EPEO1; EPVB6D; PROSC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129", "id": "NP_009129" }, { "name": "PLPBP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129", "id": "NP_009129" }, { "name": "PROSC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94903", "id": "O94903" } ], "protein_names": [ { "name": "Pyridoxal phosphate homeostasis protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94903" }, { "name": "PLP homeostasis protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94903" }, { "name": "Proline synthase co-transcribed bacterial homolog protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94903" }, { "name": "Pyridoxal phosphate-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94903" }, { "name": "proline synthetase co-transcribed bacterial homolog protein; proline synthase co-transcribed bacterial homolog protein; PLP homeostasis protein; pyridoxal phosphate homeostasis protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129", "id": "NP_009129" }, { "name": "pyridoxal phosphate homeostasis protein isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129", "id": "NP_009129" } ], "function": [ { "annotation": "Exploiting the universality of the Synechococcus elongatus COG0325 (PiPY) functions, it has been used in site-directed mutagenesis studies to shed light on disease causation by epilepsy-associated mutations in the human COG0325 gene PROSC.", "evidence": [ { "database": "RefSeq", "id": "NP_009129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129" }, { "database": "PubMed", "id": "28914444", "url": "https://glygen.org/publication/PubMed/28914444" } ] }, { "annotation": "Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.", "evidence": [ { "database": "RefSeq", "id": "NP_009129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129" }, { "database": "PubMed", "id": "37451483", "url": "https://glygen.org/publication/PubMed/37451483" } ] }, { "annotation": "Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'-phosphate (PLP), the active form of vitamin B6.", "evidence": [ { "database": "UniProtKB", "id": "O94903", "url": "https://www.uniprot.org/uniprot/O94903#function" }, { "database": "UniProtKB", "id": "MF_03225", "url": "https://www.uniprot.org/uniprot/MF_03225#function" }, { "database": "PubMed", "id": "27912044", "url": "https://glygen.org/publication/PubMed/27912044" } ] }, { "annotation": "Studies suggest that PROSC is involved in intracellular homeostatic regulation of pyridoxal 5'-phosphate, supplying this cofactor to apoenzymes while minimizing any toxic side reactions", "evidence": [ { "database": "RefSeq", "id": "NP_009129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129" }, { "database": "PubMed", "id": "27912044", "url": "https://glygen.org/publication/PubMed/27912044" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_009129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129" } ] }, { "annotation": "We therefore confirm PROSC as a novel gene for vitamin-B6-dependent epilepsy and delineate a non-specific plasma vitamin B6 profile under pyridoxine treatment.", "evidence": [ { "database": "RefSeq", "id": "NP_009129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129" }, { "database": "PubMed", "id": "28391250", "url": "https://glygen.org/publication/PubMed/28391250" } ] } ], "disease": [ { "disease_id": "DOID:0080769", "recommended_name": { "id": "DOID:0080769", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080769", "name": "early-onset vitamin B6-dependent epilepsy", "description": "An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11." }, "synonyms": [ { "id": "MONDO:0015005", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015005", "name": "epilepsy, early-onset, vitamin B6-dependent", "description": "" }, { "id": "MONDO:0015005", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015005", "name": "EPVB6D", "description": "" }, { "id": "MONDO:0015005", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015005", "name": "epilepsy, early-onset, vitamin B6-dependent", "description": "" }, { "id": "MONDO:0015005", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015005", "name": "epilepsy, early-onset, vitamin B6-dependent; EPVB6D", "description": "" }, { "id": "MIM:617290", "resource": "MIM", "url": "https://www.omim.org/entry/617290", "name": "Epilepsy, early-onset, vitamin B6-dependent", "description": "Epilepsy, early-onset, vitamin B6-dependent" } ], "evidence": [ { "id": "617290", "database": "MIM", "url": "https://www.omim.org/entry/617290" } ] } ], "snv": [ { "evidence": [ { "id": "O94903", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O94903" } ], "glycoeffect": [], "start_pos": 194, "end_pos": 194, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "chr_id": "8", "chr_pos": "37775465", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P194", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94903", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94903" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"O-GlcNAcylation", "evidence": [ { "id": "O94903", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94903" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 226, "end_pos": 226, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94903", "url": "https://www.uniprot.org/uniprot/O94903" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O94903", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94903" } ], "site_lbl": "Ser226" }, { "start_pos": 244, 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"kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O94903", "url": "https://www.uniprot.org/uniprot/O94903" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O94903", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94903" } ], "site_lbl": "Ser6" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cloning and characterization of human and mouse PROSC (proline synthetase co-transcribed) genes.", "journal": "J. Hum. Genet.", "date": "1999", "authors": "Ikegawa S, Isomura M, Koshizuka Y, Nakamura Y", "evidence": [ { "database": "UniProtKB", "id": "O94903", "url": "https://www.uniprot.org/uniprot/O94903" } ], "reference": [ { "type": "PubMed", "id": "10496079", "url": "https://glygen.org/publication/PubMed/10496079" } ] }, { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "O94903", "url": "https://www.uniprot.org/uniprot/O94903" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O94903", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94903" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O94903", "url": "https://www.uniprot.org/uniprot/O94903" }, { "database": "iPTMnet", "id": "O94903", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94903" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94903", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94903" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O94903", "url": "https://www.uniprot.org/uniprot/O94903" }, { "database": "iPTMnet", "id": "O94903", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O94903" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.", "journal": "American journal of human genetics", "date": "2016", "authors": "Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crecy-Lagard V, Mills PB, Clayton PT", "evidence": [ { "database": "UniProtKB", "id": "O94903", "url": "https://www.uniprot.org/uniprot/O94903" }, { "database": "RefSeq", "id": "NP_009129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129" } ], "reference": [ { "type": "PubMed", "id": "27912044", "url": "https://glygen.org/publication/PubMed/27912044" } ] }, { "title": "Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.", "journal": "Journal of medical genetics", "date": "2017", "authors": "Plecko B, Zweier M, Begemann A, Mathis D, Schmitt B, Striano P, Baethmann M, Vari MS, Beccaria F, Zara F, Crowther LM, Joset P, Sticht H, Papuc SM, Rauch A", "evidence": [ { "database": "RefSeq", "id": "NP_009129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129" } ], "reference": [ { "type": "PubMed", "id": "28391250", "url": "https://glygen.org/publication/PubMed/28391250" } ] }, { "title": "Studies on cyanobacterial protein PipY shed light on structure, potential functions, and vitamin B6 -dependent epilepsy.", "journal": "FEBS letters", "date": "2017", "authors": "Tremino L, Forcada-Nadal A, Contreras A, Rubio V", "evidence": [ { "database": "RefSeq", "id": "NP_009129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129" } ], "reference": [ { "type": "PubMed", "id": "28914444", "url": "https://glygen.org/publication/PubMed/28914444" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94903", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94903" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O94903", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O94903" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.", "journal": "The Journal of biological chemistry", "date": "2023-07-13", "authors": "Ciapaite Jolita, van Roermund Carlo W T, Bosma Marjolein, Gerrits Johan, Houten Sander M, IJlst Lodewijk, Waterham Hans R, van Karnebeek Clara D M, Wanders Ronald J A, Zwartkruis Fried J T, Jans Judith J, Verhoeven-Duif Nanda M", "evidence": [ { "database": "RefSeq", "id": "NP_009129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009129" } ], "reference": [ { "type": "PubMed", "id": "37451483", "url": "https://glygen.org/publication/PubMed/37451483" } ] } ], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "D3ZCA0-1", "protein_name": "Pyridoxal phosphate homeostasis protein", "gene_name": "Plpbp", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLRGGSMTAELGVGLALRAVNERVQQSVARRPRGLPAIQPRLVAVSKTKPTEMVIEAYGHGQRTFGENYVQELLEKASNPTLLSSCPEIKWHFIGHLQKQNVNKLMAVPNLSMLETIDSVKLADKVNSSWQKKGSPERLKVMVQINTSGEDSKHGLLPSETVAVVEHIKASCPNLEFVGLMTIGSFGHDLSQGPNPDFQRLLSLRQELCEKLGLPVEQVELSMGMSVDFQHAIEVGSTNIRVGSTIFGERDYSKKPAPDKTTIDLTASVPLVQGQ", "length": 275 }, "evidence": [ { "id": "45928113", "url": "http://www.informatics.jax.org/homology/45928113", "database": "MGI" }, { "id": "O94903", "url": "https://omabrowser.org/oma/group/O94903/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P38197-1", "protein_name": "Pyridoxal phosphate homeostasis protein", "gene_name": "", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSTGITYDEDRKTQLIAQYESVREVVNAEAKNVHVNENASKILLLVVSKLKPASDIQILYDHGVREFGENYVQELIEKAKLLPDDIKWHFIGGLQTNKCKDLAKVPNLYSVETIDSLKKAKKLNESRAKFQPDCNPILCNVQINTSHEDQKSGLNNEAEIFEVIDFFLSEECKYIKLNGLMTIGSWNVSHEDSKENRDFATLVEWKKKIDAKFGTSLKLSMGMSADFREAIRQGTAEVRIGTDIFGARPPKNEARII", "length": 257 }, "evidence": [ { "id": "O94903", "url": "https://omabrowser.org/oma/group/O94903/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q9VA97-1", "protein_name": "Pyridoxal phosphate homeostasis protein", "gene_name": "Dmel\\CG1983", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLRRTMAEFDVKAGLQHVLKRIDEVLLQRPKEVQAARPLLVAVSKTKPAEAVIEAYEGGQRDFGENYVQELEEKSRHPDILAKCPDIRWHFIGHMQSNKINKILSVPNLHMIQTVDSEKLATKLDAAWSKRQPTPEEPLQVLIQINTSGEDVKSGIEAKDAPALYQYIKSNLKHLNLMGIMTIGAFGFDYSNGPNPDFVSLMQVHRSICEAHSLAPDSVLVSMGMSNDFDKAIEMGSTVVRVGSSIFGHRAAKV", "length": 254 }, "evidence": [ { "id": "O94903", "url": "https://omabrowser.org/oma/group/O94903/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q9Z2Y8-1", "protein_name": "Pyridoxal phosphate homeostasis protein", "gene_name": "Plpbp", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": 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