{ "uniprot_canonical_ac": "Q9H4M7-1", "uniprot_ac": "Q9H4M7", "uniprot_id": "PKHA4_HUMAN", "mass": { "chemical_mass": 85401.0, "monoisotopic_mass": 85401.0 }, "refseq": { "ac": "NP_001154826", "name": "pleckstrin homology domain-containing family A member 4 isoform 2", "summary": "This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154826" }, "gene_names": [ { "name": "PLEKHA4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9H4M7", "id": "Q9H4M7" }, { "name": "PEPP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154826", "id": "NP_001154826" }, { "name": "PEPP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H4M7", "id": "Q9H4M7" }, { "name": "PLEKHA4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154826", "id": "NP_001154826" } ], "protein_names": [ { "name": "Pleckstrin homology domain-containing family A member 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9H4M7" }, { "name": "PEPP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H4M7" }, { "name": "PH domain-containing family A member 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H4M7" }, { "name": "Phosphoinositol 3-phosphate-binding protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H4M7" }, { "name": "phosphoinositol 3-phosphate-binding PH domain protein 1; pleckstrin homology domain-containing family A member 4; PH domain-containing family A member 4; pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154826", "id": "NP_001154826" }, { "name": "pleckstrin homology domain-containing family A member 4 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154826", "id": "NP_001154826" } ], "function": [ { "annotation": "Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides.", "evidence": [ { "database": "UniProtKB", "id": "Q9H4M7", "url": "https://www.uniprot.org/uniprot/Q9H4M7#function" }, { "database": "PubMed", "id": "11001876", "url": "https://glygen.org/publication/PubMed/11001876" } ] }, { "annotation": "PLEKHA4 Is a Prognostic Biomarker and Correlated with Immune Infiltrates in Glioma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001154826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154826" }, { "database": "PubMed", "id": "36714030", "url": "https://glygen.org/publication/PubMed/36714030" } ] }, { "annotation": "PLEKHA4 Promotes Wnt/beta-Catenin Signaling-Mediated G1-S Transition and Proliferation in Melanoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001154826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154826" }, { "database": "PubMed", "id": "33574086", "url": "https://glygen.org/publication/PubMed/33574086" } ] }, { "annotation": "PLEKHA4 is Associated with Tumour Microenvironment, Stemness, Proliferation and Poor Prognosis of Gliomas.", "evidence": [ { "database": "RefSeq", "id": "NP_001154826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154826" }, { "database": "PubMed", "id": "37735118", "url": "https://glygen.org/publication/PubMed/37735118" } ] }, { "annotation": "PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_001154826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154826" }, { "database": "PubMed", "id": "31091453", "url": "https://glygen.org/publication/PubMed/31091453" } ] }, { "annotation": "This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001154826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154826" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "71.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "63.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "74.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "58.02", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "76.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "58.55", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "75.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "58.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "78.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105559", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105559" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9H4M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H4M7" } ], "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 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"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", 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q9H4M7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H4M7" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"Q9H4M7", "url": "https://www.uniprot.org/uniprot/Q9H4M7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H4M7-1", "url": "https://www.uniprot.org/uniprot/Q9H4M7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H4M7-2", "url": "https://www.uniprot.org/uniprot/Q9H4M7-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEGSRPRSSLSLASSASTISSLSSLSPKKPTRAVNKIHAFGKRGNALRRDPNLPVHIRGWLHKQDSSGLRLWKRRWFVLSGHCLFYYKDSREESVLGSVLLPSYNIRPDGPGAPRGRRFTFTAEHPGMRTYVLAADTLEDLRGWLRALGRASRAEGDDYGQPRSPARPQPGEGPGGPGGPPEVSRGEEGRISESPEVTRLSRGRGRPRLLTPSPTTDLHSGLQMRRARSPDLFTPLSRPPSPLSLPRPRSAPARRPPAPSGDTAPPARPHTPLSRIDVRPPLDWGPQRQTLSRPPTPRRGPPSEAGGGKPPRSPQHWSQEPRTQAHSGSPTYLQLPPRPPGTRASMVLLPGPPLESTFHQSLETDTLLTKLCGQDRLLRRLQEEIDQKQEEKEQLEAALELTRQQLGQATREAGAPGRAWGRQRLLQDRLVSVRATLCHLTQERERVWDTYSGLEQELGTLRETLEYLLHLGSPQDRVSAQQQLWMVEDTLAGLGGPQKPPPHTEPDSPSPVLQGEESSERESLPESLELSSPRSPETDWGRPPGGDKDLASPHLGLGSPRVSRASSPEGRHLPSPQLGTKAPVARPRMSAQEQLERMRRNQECGRPFPRPTSPRLLTLGRTLSPARRQPDVEQRPVVGHSGAQKWLRSSGSWSSPRNTTPYLPTSEGHRERVLSLSQALATEASQWHRMMTGGNLDSQGDPLPGVPLPPSDPTRQETPPPRSPPVANSGSTGFSRRGSGRGGGPTPWGPAWDAGIAPPVLPQDEGAWPLRVTLLQSSF", "length": 779, "header": "sp|Q9H4M7-1|PKHA4_HUMAN Isoform 1 of Pleckstrin homology domain-containing family A member 4 OS=Homo sapiens OX=9606 GN=PLEKHA4 PE=1 SV=2 CANONICAL=Q9H4M7-1" }, "isoforms": [ { "isoform_ac": "A0A9L9PXT3-1", "url": "", "sequence": { "sequence": "MEGSRPRSSLSLASSASTISSLSSLSPKKPTRAVNKIHAFGKRGNALRRDPNLPVHIRGWLHKQDSSGLRLWKRRWFVLSGHCLFYYKAARRVS", "length": 94, "header": "tr|A0A9L9PXT3-1|A0A9L9PXT3_HUMAN Computationally mapped isoform of Pleckstrin homology domain containing A4 OS=Homo sapiens OX=9606 GN=PLEKHA4 PE=4 SV=1 CANONICAL=Q9H4M7-1" }, "locus": {} }, { "isoform_ac": "M0QXJ3-1", "url": "", "sequence": { "sequence": "MAGSSPGVNFPPKLGDRYAADQVVRAGPASAEAAGGDRPEAGGEGATRSSSGVDPATAGPSHQGGWGSREGLGSPAPLAGPAGQCEGHPLSLDSGAREGLGHVQWPGAGAGHLKRDAGVPAAPWFSPGQSVCSAAAVDGGRHAGRSGWPPETAPTH", "length": 156, "header": "tr|M0QXJ3-1|PKHA4_HUMAN Computationally mapped isoform of Pleckstrin homology domain-containing family A member 4 OS=Homo sapiens OX=9606 GN=PLEKHA4 PE=1 SV=2 CANONICAL=Q9H4M7-1" }, "locus": {} }, { "isoform_ac": "M0R0J1-1", "url": "", "sequence": { "sequence": "MEGSRPRSSLSLASSASTISSLSSLSPKDSSGLRLWKRRWFVLSGHCLFYYKDSREESVLGSVLLPSYNIRPDGPGAPRGRRFTFTAEHPGMRTYVLAADTLEDLRGWLRALGRASRAEGDDYGQPRSPARPQPGEGPGGPGGPPEVSRGEEGRISESPEVTRLSRGRGRPRLLTPSPTTDLHSGLQMRRARSPDLFTPLSRPPSPLSLPRPRSAPARRPPAPSGDTAPPARPHTPLSRIDVRPPLDWGPQRQTLSRPPTPRRGPPSEAGGGKPPRSPQHWSQEPRTQVSREAHSGSPTYLQLPPRPPGTRASMVLLPGPPLESTFHQSLETDTLLTKLCGQDRLLRRLQEEIDQKQEEKEQLEAALELTRQQLGQATREAGAPGRAWGRQRLLQDRLVSVRATLCHLTQERERVWDTYSGLEQELGTLRETLEYLLHLGSPQDRVSAQQQLWMVEDTLAGLGGPQKPPPHTEPDSPSPVLQGEESSERESLPESLELSSPRSPETDWGRPPGGDKDLASPHLGLGSPRVSRASSPEGRHLPSPQLGTKAPVARPRMSAQEQLERMRRNQECGRPFPRPTSPRLLTLGRTLSPARRQPDVEQRPVVGHSGAQKWLRSSGSWSSPRNTTPYLPTSEGHRERVLSLSQALATEASQWHRMMTGGNLDSQGDPLPGVPLPPSDPTRQETPPPRSPPVANSGSTGFSRRGSGRGGGPTPWGPAWDAGIAPPVLPQDEGAWPLRVTLLQSSF", "length": 747, "header": "tr|M0R0J1-1|M0R0J1_HUMAN Computationally mapped isoform of Pleckstrin homology domain containing A4 OS=Homo sapiens OX=9606 GN=PLEKHA4 PE=1 SV=2 CANONICAL=Q9H4M7-1" }, "locus": {} }, { "isoform_ac": "M0R2K5-1", "url": "", "sequence": { "sequence": "MGTLWLPHLSPAPPAAPWDPGLHGFIAGSSPGVNFPPKLGDRYAADQVVRAGPASAEAAGGDRPEAGGEGATRSSSGVDPATAGPSHQGGWGSREGLGSPAPLAGPAGQCEGHPLSLDSGAREGLGHVQWPGAGAGHLKRDAGVPAAPWFSPGQSVCSAAAVDGGRHAGRSGWPPETAPTH", "length": 181, "header": "tr|M0R2K5-1|PKHA4_HUMAN Computationally mapped isoform of Pleckstrin homology domain-containing family A member 4 OS=Homo sapiens OX=9606 GN=PLEKHA4 PE=1 SV=9 CANONICAL=Q9H4M7-1" }, "locus": {} }, { "isoform_ac": "Q9H4M7-1", "url": "", "sequence": { "sequence": "MEGSRPRSSLSLASSASTISSLSSLSPKKPTRAVNKIHAFGKRGNALRRDPNLPVHIRGWLHKQDSSGLRLWKRRWFVLSGHCLFYYKDSREESVLGSVLLPSYNIRPDGPGAPRGRRFTFTAEHPGMRTYVLAADTLEDLRGWLRALGRASRAEGDDYGQPRSPARPQPGEGPGGPGGPPEVSRGEEGRISESPEVTRLSRGRGRPRLLTPSPTTDLHSGLQMRRARSPDLFTPLSRPPSPLSLPRPRSAPARRPPAPSGDTAPPARPHTPLSRIDVRPPLDWGPQRQTLSRPPTPRRGPPSEAGGGKPPRSPQHWSQEPRTQAHSGSPTYLQLPPRPPGTRASMVLLPGPPLESTFHQSLETDTLLTKLCGQDRLLRRLQEEIDQKQEEKEQLEAALELTRQQLGQATREAGAPGRAWGRQRLLQDRLVSVRATLCHLTQERERVWDTYSGLEQELGTLRETLEYLLHLGSPQDRVSAQQQLWMVEDTLAGLGGPQKPPPHTEPDSPSPVLQGEESSERESLPESLELSSPRSPETDWGRPPGGDKDLASPHLGLGSPRVSRASSPEGRHLPSPQLGTKAPVARPRMSAQEQLERMRRNQECGRPFPRPTSPRLLTLGRTLSPARRQPDVEQRPVVGHSGAQKWLRSSGSWSSPRNTTPYLPTSEGHRERVLSLSQALATEASQWHRMMTGGNLDSQGDPLPGVPLPPSDPTRQETPPPRSPPVANSGSTGFSRRGSGRGGGPTPWGPAWDAGIAPPVLPQDEGAWPLRVTLLQSSF", "length": 779, "header": "sp|Q9H4M7-1|PKHA4_HUMAN Isoform 1 of Pleckstrin homology domain-containing family A member 4 OS=Homo sapiens OX=9606 GN=PLEKHA4 PE=1 SV=2 CANONICAL=Q9H4M7-1" }, "locus": { "chromosome": "19", "start_pos": 48867620, "end_pos": 48837292, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000263265.11", "url": "https://www.ensembl.org/id/ENST00000263265.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000263265.5", "url": "https://www.ensembl.org/id/ENSP00000263265.5" } ] } }, { "isoform_ac": "Q9H4M7-2", "url": "", "sequence": { "sequence": "MEGSRPRSSLSLASSASTISSLSSLSPKKPTRAVNKIHAFGKRGNALRRDPNLPVHIRGWLHKQDSSGLRLWKRRWFVLSGHCLFYYKDSREESVLGSVLLPSYNIRPDGPGAPRGRRFTFTAEHPGMRTYVLAADTLEDLRGWLRALGRASRAEGDDYGQPRSPARPQPGEGPGGPGGPPEVSRGEEGRISESPEVTRLSRGRGRPRLLTPSPTTDLHSGLQMRRARSPDLFTPLSRPPSPLSLPRPRSAPARRPPAPSGDTAPPARPHTPLSRIDVRPPLDWGPQRQTLSRPPTPRRGPPSEAGGGKPPRSPQHWSQEPRTQPGPPLESTFHQSLETDTLLTKLCGQDRLLRRLQEEIDQKQEEKEQLEAALELTRQQLGQATREAGAPGRAWGRQRLLQDRLVSVRATLCHLTQERERVWDTYSGLEQELGTLRETLEYLLHLGSPQDRVSAQQQLWMVEDTLAGLGGPQKPPPHTEPDSPSPVLQGEESSERESLPESLELSSPRSPETDWGRPPGGDKDLASPHLGLGSPRVSRASSPEGRHLPSPQLGTKSKEHHPLLADFRRSPGAGSQPLPSPGY", "length": 583, "header": "sp|Q9H4M7-2|PKHA4_HUMAN Isoform 2 of Pleckstrin homology domain-containing family A member 4 OS=Homo sapiens OX=9606 GN=PLEKHA4 PE=1 SV=2 CANONICAL=Q9H4M7-1" }, "locus": { "chromosome": "19", "start_pos": 48867620, "end_pos": 48838049, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000355496.9", "url": "https://www.ensembl.org/id/ENST00000355496.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000347683.4", "url": "https://www.ensembl.org/id/ENSP00000347683.4" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 164, "end_pos": 164, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H4M7", "url": "https://www.uniprot.org/uniprot/Q9H4M7" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9H4M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4M7" } ], "site_lbl": "Ser164" }, { "start_pos": 559, "end_pos": 559, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H4M7", "url": "https://www.uniprot.org/uniprot/Q9H4M7" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9H4M7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H4M7" } ], "site_lbl": "Ser559" } ], "glycation": [], "keywords": [], "publication": [ { "title": "A novel SH2-containing phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase (SHIP2) is constitutively tyrosine phosphorylated and associated with src homologous and collagen gene (SHC) in chronic myelogenous leukemia progenitor cells.", "journal": "Blood", "date": "1999", "authors": "Wisniewski D, Strife A, Swendeman S, Erdjument-Bromage H, Geromanos S, Kavanaugh WM, Tempst P, Clarkson B", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10194451", "url": "https://glygen.org/publication/PubMed/10194451" } ] }, { "title": "SAC1-like domains of yeast SAC1, INP52, and INP53 and of human synaptojanin encode polyphosphoinositide phosphatases.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Guo S, Stolz LE, Lemrow SM, York JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10224048", "url": "https://glygen.org/publication/PubMed/10224048" } ] }, { "title": "Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.", "journal": "Cell", "date": "1999", "authors": "Lee JO, Yang H, Georgescu MM, Di Cristofano A, Maehama T, Shi Y, Dixon JE, Pandolfi P, Pavletich NP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10555148", "url": "https://glygen.org/publication/PubMed/10555148" } ] }, { "title": "ARF mediates recruitment of PtdIns-4-OH kinase-beta and stimulates synthesis of PtdIns(4,5)P2 on the Golgi complex.", "journal": "Nature cell biology", "date": "1999", "authors": "Godi A, Pertile P, Meyers R, Marra P, Di Tullio G, Iurisci C, Luini A, Corda D, De Matteis MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10559940", "url": "https://glygen.org/publication/PubMed/10559940" } ] }, { "title": "Novel inositol polyphosphate 5-phosphatase localizes at membrane ruffles.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Mochizuki Y, Takenawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10593988", "url": "https://glygen.org/publication/PubMed/10593988" } ] }, { "title": "Identification and characterization of a novel inositol polyphosphate 5-phosphatase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ijuin T, Mochizuki Y, Fukami K, Funaki M, Asano T, Takenawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10753883", "url": "https://glygen.org/publication/PubMed/10753883" } ] }, { "title": "Class II phosphoinositide 3-kinases are downstream targets of activated polypeptide growth factor receptors.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Arcaro A, Zvelebil MJ, Wallasch C, Ullrich A, Waterfield MD, Domin J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10805725", "url": "https://glygen.org/publication/PubMed/10805725" } ] }, { "title": "The phosphatidylinositol polyphosphate 5-phosphatase SHIP1 associates with the dok1 phosphoprotein in bcr-Abl transformed cells.", "journal": "Cellular signalling", "date": "2000", "authors": "Dunant NM, Wisniewski D, Strife A, Clarkson B, Resh MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "10822173", "url": "https://glygen.org/publication/PubMed/10822173" } ] }, { "title": "Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities.", "journal": "Biochem. J.", "date": "2000", "authors": "Dowler S, Currie RA, Campbell DG, Deak M, Kular G, Downes CP, Alessi DR", "evidence": [ { "database": "UniProtKB", "id": "Q9H4M7", "url": "https://www.uniprot.org/uniprot/Q9H4M7" }, { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11001876", "url": "https://glygen.org/publication/PubMed/11001876" } ] }, { "title": "Synaptojanin 2, a novel Rac1 effector that regulates clathrin-mediated endocytosis.", "journal": "Current biology : CB", "date": "2000", "authors": "Malecz N, McCabe PC, Spaargaren C, Qiu R, Chuang Y, Symons M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11084340", "url": "https://glygen.org/publication/PubMed/11084340" } ] }, { "title": "Cloning of a human type II phosphatidylinositol 4-kinase reveals a novel lipid kinase family.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Minogue S, Anderson JS, Waugh MG, dos Santos M, Corless S, Cramer R, Hsuan JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11279162", "url": "https://glygen.org/publication/PubMed/11279162" } ] }, { "title": "FYVE-DSP2, a FYVE domain-containing dual specificity protein phosphatase that dephosphorylates phosphotidylinositol 3-phosphate.", "journal": "Experimental cell research", "date": "2001", "authors": "Zhao R, Qi Y, Chen J, Zhao ZJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11302699", "url": "https://glygen.org/publication/PubMed/11302699" } ] }, { "title": "The Src homology 2 domain containing inositol 5-phosphatase SHIP2 is recruited to the epidermal growth factor (EGF) receptor and dephosphorylates phosphatidylinositol 3,4,5-trisphosphate in EGF-stimulated COS-7 cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Pesesse X, Dewaste V, De Smedt F, Laffargue M, Giuriato S, Moreau C, Payrastre B, Erneux C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11349134", "url": "https://glygen.org/publication/PubMed/11349134" } ] }, { "title": "PIP kinase Igamma is the major PI(4,5)P(2) synthesizing enzyme at the synapse.", "journal": "Neuron", "date": "2001", "authors": "Wenk MR, Pellegrini L, Klenchin VA, Di Paolo G, Chang S, Daniell L, Arioka M, Martin TF, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11604140", "url": "https://glygen.org/publication/PubMed/11604140" } ] }, { "title": "Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity.", "journal": "Current biology : CB", "date": "2001", "authors": "Walker DM, Urbe S, Dove SK, Tenza D, Raposo G, Clague MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11676921", "url": "https://glygen.org/publication/PubMed/11676921" } ] }, { "title": "Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kim SA, Taylor GS, Torgersen KM, Dixon JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11733541", "url": "https://glygen.org/publication/PubMed/11733541" } ] }, { "title": "Interaction between tyrosine kinase Etk and a RUN domain- and FYVE domain-containing protein RUFY1. A possible role of ETK in regulation of vesicle trafficking.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Yang J, Kim O, Wu J, Qiu Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11877430", "url": "https://glygen.org/publication/PubMed/11877430" } ] }, { "title": "Characterization of type II phosphatidylinositol 4-kinase isoforms reveals association of the enzymes with endosomal vesicular compartments.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Balla A, Tuymetova G, Barshishat M, Geiszt M, Balla T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "11923287", "url": "https://glygen.org/publication/PubMed/11923287" } ] }, { "title": "TAPP1 and TAPP2 are targets of phosphatidylinositol 3-kinase signaling in B cells: sustained plasma membrane recruitment triggered by the B-cell antigen receptor.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Marshall AJ, Krahn AK, Ma K, Duronio V, Hou S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12101241", "url": "https://glygen.org/publication/PubMed/12101241" } ] }, { "title": "The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.", "journal": "Journal of cell science", "date": "2002", "authors": "Laporte J, Blondeau F, Gansmuller A, Lutz Y, Vonesch JL, Mandel JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12118066", "url": "https://glygen.org/publication/PubMed/12118066" } ] }, { "title": "Type II phosphatidylinositol 4-kinase beta is a cytosolic and peripheral membrane protein that is recruited to the plasma membrane and activated by Rac-GTP.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wei YJ, Sun HQ, Yamamoto M, Wlodarski P, Kunii K, Martinez M, Barylko B, Albanesi JP, Yin HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12324459", "url": "https://glygen.org/publication/PubMed/12324459" } ] }, { "title": "Recruitment and regulation of phosphatidylinositol phosphate kinase type 1 gamma by the FERM domain of talin.", "journal": "Nature", "date": "2002", "authors": "Di Paolo G, Pellegrini L, Letinic K, Cestra G, Zoncu R, Voronov S, Chang S, Guo J, Wenk MR, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12422219", "url": "https://glygen.org/publication/PubMed/12422219" } ] }, { "title": "Identification of a novel domain in two mammalian inositol-polyphosphate 5-phosphatases that mediates membrane ruffle localization. The inositol 5-phosphatase skip localizes to the endoplasmic reticulum and translocates to membrane ruffles following epidermal growth factor stimulation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Gurung R, Tan A, Ooms LM, McGrath MJ, Huysmans RD, Munday AD, Prescott M, Whisstock JC, Mitchell CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], "reference": [ { "type": "PubMed", "id": "12536145", "url": "https://glygen.org/publication/PubMed/12536145" } ] }, { "title": "Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.", "journal": "Current biology : CB", "date": "2003", "authors": "Schaletzky J, Dove SK, Short B, Lorenzo O, Clague MJ, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660499" } ], 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