{ "uniprot_canonical_ac": "O95886-1", "uniprot_ac": "O95886", "uniprot_id": "DLGP3_HUMAN", "mass": { "chemical_mass": 106040.0, "monoisotopic_mass": 106040.0 }, "refseq": { "ac": "NP_001073887", "name": "disks large-associated protein 3", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" }, "gene_names": [ { "name": "DLGAP3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95886", "id": "O95886" }, { "name": "DAP3; SAPAP3; SPAPA3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887", "id": "NP_001073887" }, { "name": "DAP3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95886", "id": "O95886" }, { "name": "DLGAP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887", "id": "NP_001073887" } ], "protein_names": [ { "name": "Disks large-associated protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95886" }, { "name": "DAP-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95886" }, { "name": "PSD-95/SAP90-binding protein 3; DAP-3; discs large homolog associated protein 3; SAP90/PSD-95-associated protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887", "id": "NP_001073887" }, { "name": "PSD-95/SAP90-binding protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95886" }, { "name": "SAP90/PSD-95-associated protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95886" }, { "name": "SAPAP3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95886" }, { "name": "disks large-associated protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887", "id": "NP_001073887" } ], "function": [ { "annotation": "May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "O95886", "url": "https://www.uniprot.org/uniprot/O95886#function" } ] }, { "annotation": "Multiple rare SAPAP3 missense variants in trichotillomania and OCD. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" }, { "database": "PubMed", "id": "19096451", "url": "https://glygen.org/publication/PubMed/19096451" } ] }, { "annotation": "SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" }, { "database": "PubMed", "id": "35513389", "url": "https://glygen.org/publication/PubMed/35513389" } ] }, { "annotation": "Sapap3 is a promising functional candidate gene for human grooming disorder (obsessive compulsive disorder). GeneRIF: Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" }, { "database": "PubMed", "id": "19051237", "url": "https://glygen.org/publication/PubMed/19051237" } ] }, { "annotation": "Several rare variants of the DLGAP3 gene were found in this study which may be associated with schizophrenia.", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" }, { "database": "PubMed", "id": "23414653", "url": "https://glygen.org/publication/PubMed/23414653" } ] }, { "annotation": "This study provides suggestive evidence that DLGAP3 and its interactive effect with SLC1A1 might be involved in susceptibility to developing OC symptoms in schizophrenia patients receiving AAP treatment.", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" }, { "database": "PubMed", "id": "21990008", "url": "https://glygen.org/publication/PubMed/21990008" } ] }, { "annotation": "Valence processing alterations in SAPAP3 knockout mice and human OCD.", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" }, { "database": "PubMed", "id": "35661523", "url": "https://glygen.org/publication/PubMed/35661523" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "52.57", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000116544", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116544" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.44", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000116544", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116544" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "47.39", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000116544", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116544" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "60.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116544", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116544" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "46.2", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000116544", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116544" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "50.02", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000116544", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116544" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "57.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116544", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116544" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "43.44", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000116544", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116544" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "50.95", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000116544", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116544" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "50.81", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000116544", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116544" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95886", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95886" } ], "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": "" 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"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", 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"header": "sp|O95886-1|DLGP3_HUMAN Isoform 1 of Disks large-associated protein 3 OS=Homo sapiens OX=9606 GN=DLGAP3 PE=1 SV=3 CANONICAL=O95886-1" }, "locus": { "chromosome": "1", "start_pos": 34905383, "end_pos": 34866086, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000235180.4", "url": "https://www.ensembl.org/id/ENST00000235180.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000235180.4", "url": "https://www.ensembl.org/id/ENSP00000235180.4" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 406, "end_pos": 406, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95886", "url": "https://www.uniprot.org/uniprot/O95886" } ], "site_lbl": "Ser406" }, { "start_pos": 409, "end_pos": 409, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": 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"", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95886", "url": "https://www.uniprot.org/uniprot/O95886" } ], "site_lbl": "Ser643" }, { "start_pos": 645, "end_pos": 645, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95886", "url": "https://www.uniprot.org/uniprot/O95886" } ], "site_lbl": "Ser645" }, { "start_pos": 932, "end_pos": 932, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95886", "url": "https://www.uniprot.org/uniprot/O95886" } ], "site_lbl": "Ser932" }, { "start_pos": 935, "end_pos": 935, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95886", "url": "https://www.uniprot.org/uniprot/O95886" } ], "site_lbl": "Ser935" }, { "start_pos": 967, "end_pos": 967, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95886", "url": "https://www.uniprot.org/uniprot/O95886" } ], "site_lbl": "Ser967" } ], "glycation": [], "keywords": [], "publication": [ { "title": "CASK and protein 4.1 support F-actin nucleation on neurexins.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Biederer T, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "11604393", "url": "https://glygen.org/publication/PubMed/11604393" } ] }, { "title": "Neuroligin 2 is exclusively localized to inhibitory synapses.", "journal": "European journal of cell biology", "date": "2004", "authors": "Varoqueaux F, Jamain S, Brose N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "15540461", "url": "https://glygen.org/publication/PubMed/15540461" } ] }, { "title": "A splice code for trans-synaptic cell adhesion mediated by binding of neuroligin 1 to alpha- and beta-neurexins.", "journal": "Neuron", "date": "2005", "authors": "Boucard AA, Chubykin AA, Comoletti D, Taylor P, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "16242404", "url": "https://glygen.org/publication/PubMed/16242404" } ] }, { "title": "Structure function and splice site analysis of the synaptogenic activity of the neurexin-1 beta LNS domain.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2006", "authors": "Graf ER, Kang Y, Hauner AM, Craig AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "16624946", "url": "https://glygen.org/publication/PubMed/16624946" } ] }, { "title": "Alternative splicing controls selective trans-synaptic interactions of the neuroligin-neurexin complex.", "journal": "Neuron", "date": "2006", "authors": "Chih B, Gollan L, Scheiffele P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "16846852", "url": "https://glygen.org/publication/PubMed/16846852" } ] }, { "title": "Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses.", "journal": "The European journal of neuroscience", "date": "2007", "authors": "Budreck EC, Scheiffele P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "17897391", "url": "https://glygen.org/publication/PubMed/17897391" } ] }, { "title": "Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory components.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Reissner C, Klose M, Fairless R, Missler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "18812509", "url": "https://glygen.org/publication/PubMed/18812509" } ] }, { "title": "The actin-binding protein Abp1 controls dendritic spine morphology and is important for spine head and synapse formation.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2008", "authors": "Haeckel A, Ahuja R, Gundelfinger ED, Qualmann B, Kessels MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "18829961", "url": "https://glygen.org/publication/PubMed/18829961" } ] }, { "title": "Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study.", "journal": "American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics", "date": "2009", "authors": "Bienvenu OJ, Wang Y, Shugart YY, Welch JM, Grados MA, Fyer AJ, Rauch SL, McCracken JT, Rasmussen SA, Murphy DL, Cullen B, Valle D, Hoehn-Saric R, Greenberg BD, Pinto A, Knowles JA, Piacentini J, Pauls DL, Liang KY, Willour VL, Riddle M, Samuels JF, Feng G, Nestadt G", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" } ], "reference": [ { "type": "PubMed", "id": "19051237", "url": "https://glygen.org/publication/PubMed/19051237" } ] }, { "title": "Multiple rare SAPAP3 missense variants in trichotillomania and OCD.", "journal": "Molecular psychiatry", "date": "2009", "authors": "Zuchner S, Wendland JR, Ashley-Koch AE, Collins AL, Tran-Viet KN, Quinn K, Timpano KC, Cuccaro ML, Pericak-Vance MA, Steffens DC, Krishnan KR, Feng G, Murphy DL", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" } ], "reference": [ { "type": "PubMed", "id": "19096451", "url": "https://glygen.org/publication/PubMed/19096451" } ] }, { "title": "LRRTM2 functions as a neurexin ligand in promoting excitatory synapse formation.", "journal": "Neuron", "date": "2009", "authors": "Ko J, Fuccillo MV, Malenka RC, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "20064387", "url": "https://glygen.org/publication/PubMed/20064387" } ] }, { "title": "LRRTM2 interacts with Neurexin1 and regulates excitatory synapse formation.", "journal": "Neuron", "date": "2009", "authors": "de Wit J, Sylwestrak E, O'Sullivan ML, Otto S, Tiglio K, Savas JN, Yates JR 3rd, Comoletti D, Taylor P, Ghosh A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "20064388", "url": "https://glygen.org/publication/PubMed/20064388" } ] }, { "title": "LRRTMs and neuroligins bind neurexins with a differential code to cooperate in glutamate synapse development.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2010", "authors": "Siddiqui TJ, Pancaroglu R, Kang Y, Rooyakkers A, Craig AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "20519524", "url": "https://glygen.org/publication/PubMed/20519524" } ] }, { "title": "Neuroligin-4 is localized to glycinergic postsynapses and regulates inhibition in the retina.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Hoon M, Soykan T, Falkenburger B, Hammer M, Patrizi A, Schmidt KF, Sassoe-Pognetto M, Lowel S, Moser T, Taschenberger H, Brose N, Varoqueaux F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "21282647", "url": "https://glygen.org/publication/PubMed/21282647" } ] }, { "title": "Interaction between genetic variants of DLGAP3 and SLC1A1 affecting the risk of atypical antipsychotics-induced obsessive-compulsive symptoms.", "journal": "American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics", "date": "2011", "authors": "Ryu S, Oh S, Cho EY, Nam HJ, Yoo JH, Park T, Joo YH, Kwon JS, Hong KS", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" } ], "reference": [ { "type": "PubMed", "id": "21990008", "url": "https://glygen.org/publication/PubMed/21990008" } ] }, { "title": "Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia.", "journal": "Psychiatry research", "date": "2013", "authors": "Li JM, Lu CL, Cheng MC, Luu SU, Hsu SH, Chen CH", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" } ], "reference": [ { "type": "PubMed", "id": "23414653", "url": "https://glygen.org/publication/PubMed/23414653" } ] }, { "title": "Direct visualization of trans-synaptic neurexin-neuroligin interactions during synapse formation.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2014", "authors": "Tsetsenis T, Boucard AA, Arac D, Brunger AT, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "25378172", "url": "https://glygen.org/publication/PubMed/25378172" } ] }, { "title": "Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.", "journal": "Cancer Sci.", "date": "2017", "authors": "Tode N, Kikuchi T, Sakakibara T, Hirano T, Inoue A, Ohkouchi S, Tamada T, Okazaki T, Koarai A, Sugiura H, Niihori T, Aoki Y, Nakayama K, Matsumoto K, Matsubara Y, Yamamoto M, Watanabe A, Nukiwa T, Ichinose M", "evidence": [ { "database": "UniProtKB", "id": "O95886", "url": "https://www.uniprot.org/uniprot/O95886" } ], "reference": [ { "type": "PubMed", "id": "28294470", "url": "https://glygen.org/publication/PubMed/28294470" } ] }, { "title": "SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities.", "journal": "Cell death & disease", "date": "2022", "authors": "Zhang Y, Wu J, Yan Y, Gu Y, Ma Y, Wang M, Zhang H, Tao K, Lu Y, Yu W, Jing W, Wang X, Tian X", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" } ], "reference": [ { "type": "PubMed", "id": "35513389", "url": "https://glygen.org/publication/PubMed/35513389" } ] }, { "title": "Valence processing alterations in SAPAP3 knockout mice and human OCD.", "journal": "Journal of psychiatric research", "date": "2022", "authors": "Kajs BL, van Roessel PJ, Davis GL, Williams LM, Rodriguez CI, Gunaydin LA", "evidence": [ { "database": "RefSeq", "id": "NP_001073887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073887" } ], "reference": [ { "type": "PubMed", "id": "35661523", "url": "https://glygen.org/publication/PubMed/35661523" } ] }, { "title": "Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons.", "journal": "Neuron", "date": "1995", "authors": "Ullrich B, Ushkaryov YA, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "7695896", "url": "https://glygen.org/publication/PubMed/7695896" } ] }, { "title": "Neuroligin 1: a splice site-specific ligand for beta-neurexins.", "journal": "Cell", "date": "1995", "authors": "Ichtchenko K, Hata Y, Nguyen T, Ullrich B, Missler M, Moomaw C, Sudhof TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "7736595", "url": "https://glygen.org/publication/PubMed/7736595" } ] }, { "title": 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multivalent complexes of homer-related, synaptic proteins.", "journal": "Neuron", "date": "1998", "authors": "Xiao B, Tu JC, Petralia RS, Yuan JP, Doan A, Breder CD, Ruggiero A, Lanahan AA, Wenthold RJ, Worley PF", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "9808458", "url": "https://glygen.org/publication/PubMed/9808458" } ] }, { "title": "Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Song JY, Ichtchenko K, Sudhof TC, Brose N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "9927700", "url": "https://glygen.org/publication/PubMed/9927700" } ] } ], "pathway": [ { "id": "hsa:58512", 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