{ "uniprot_canonical_ac": "O95782-1", "uniprot_ac": "O95782", "uniprot_id": "AP2A1_HUMAN", "mass": { "chemical_mass": 107546.0, "monoisotopic_mass": 107546.0 }, "refseq": { "ac": "NP_055018", "name": "AP-2 complex subunit alpha-1 isoform 1", "summary": "This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055018" }, "gene_names": [ { "name": "AP2A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95782", "id": "O95782" }, { "name": "ADTAA; AP2-ALPHA; CLAPA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055018", "id": "NP_055018" }, { "name": "ADTAA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95782", "id": "O95782" }, { "name": "AP2A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055018", "id": "NP_055018" }, { "name": "CLAPA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95782", "id": "O95782" } ], "protein_names": [ { "name": "AP-2 complex subunit alpha-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95782" }, { "name": "100 kDa coated vesicle protein A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95782" }, { "name": "AP-2 complex subunit alpha-1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055018", "id": "NP_055018" }, { "name": "Adaptor protein complex AP-2 subunit alpha-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95782" }, { "name": "Adaptor-related protein complex 2 subunit alpha-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95782" }, { "name": "Alpha-adaptin A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95782" }, { "name": "Alpha1-adaptin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95782" }, { "name": "Clathrin assembly protein complex 2 alpha-A large chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95782" }, { "name": "Plasma membrane adaptor HA2/AP2 adaptin alpha A subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95782" }, { "name": "clathrin-associated/assembly/adaptor protein, large, alpha 1; adaptin, alpha A; 100 kDa coated vesicle protein A; AP-2 complex subunit alpha-1; alpha1-adaptin; alpha-adaptin A; adaptor protein complex AP-2 subunit alpha-1; adapter-related protein complex 2 alpha-1 subunit; clathrin assembly protein complex 2 alpha-A large chain; plasma membrane adaptor HA2/AP2 adaptin alpha A subunit; adapter-related protein complex 2 subunit alpha-1; adaptor related protein complex 2 alpha 1 subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055018", "id": "NP_055018" } ], "function": [ { "annotation": "AP-2alpha depletion enhanced apoptosis, demonstrating that disrupting the HIV-1 Nef:AP-2alpha interaction limits Nef-mediated apoptosis.", "evidence": [ { "database": "RefSeq", "id": "NP_055018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055018" }, { "database": "PubMed", "id": "28577469", "url": "https://glygen.org/publication/PubMed/28577469" } ] }, { "annotation": "Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782#function" }, { "database": "PubMed", "id": "14745134", "url": "https://glygen.org/publication/PubMed/14745134" }, { "database": "PubMed", "id": "19033387", "url": "https://glygen.org/publication/PubMed/19033387" }, { "database": "PubMed", "id": "15473838", "url": "https://glygen.org/publication/PubMed/15473838" }, { "database": "PubMed", "id": "23676497", "url": "https://glygen.org/publication/PubMed/23676497" } ] }, { "annotation": "Results revealed thirteen novel splice junctions of previously annotated exons. Consecutive nested PCRs led to the determination of the primary structure of seventy-seven novel AP2A1 transcripts, all of which were shown to comprise at least one premature translation termination codon, thus representing nonsense-mediated mRNA decay candidates.", "evidence": [ { "database": "RefSeq", "id": "NP_055018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055018" }, { "database": "PubMed", "id": "30081190", "url": "https://glygen.org/publication/PubMed/30081190" } ] }, { "annotation": "This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_055018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055018" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1331385395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331385395" }, { "id": "rs1331385395", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1331385395#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 105, "end_pos": 105, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "19", "chr_pos": "49782565", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376940196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376940196" }, { "id": "rs376940196", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376940196#frequency_tab" }, { "id": "rs376940196", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376940196" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 115, "end_pos": 115, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNA->NNT).", "chr_id": "19", "chr_pos": "49782594", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95782", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95782" }, { "id": "rs762300764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762300764" }, { "id": "rs762300764", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762300764" }, { "id": "rs762300764", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762300764" }, { "id": "rs762300764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762300764" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 189, "end_pos": 189, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->M).", "chr_id": "19", "chr_pos": "49792027", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T189", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "O95782", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95782" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 398, "end_pos": 398, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "19", "chr_pos": "49799686", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D398", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic 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"https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95782", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95782" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95782" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95782", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95782" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNKYTEKQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMCLALHCIANVGSREMGEAFAADIPRILVAGDSMDSVKQSAALCLLRLYKASPDLVPMGEWTARVVHLLNDQHMGVVTAAVSLITCLCKKNPDDFKTCVSLAVSRLSRIVSSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPPPEDAAVKGRLVECLETVLNKAQEPPKSKKVQHSNAKNAILFETISLIIHYDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSEFSHEAVKTHIDTVINALKTERDVSVRQRAADLLYAMCDRSNAKQIVSEMLRYLETADYAIREEIVLKVAILAEKYAVDYSWYVDTILNLIRIAGDYVSEEVWYRVLQIVTNRDDVQGYAAKTVFEALQAPACHENMVKVGGYILGEFGNLIAGDPRSSPPVQFSLLHSKFHLCSVATRALLLSTYIKFINLFPETKATIQGVLRAGSQLRNADVELQQRAVEYLTLSSVASTDVLATVLEEMPPFPERESSILAKLKRKKGPGAGSALDDGRRDPSSNDINGGMEPTPSTVSTPSPSADLLGLRAAPPPAAPPASAGAGNLLVDVFDGPAAQPSLGPTPEEAFLSELEPPAPESPMALLADPAPAADPGPEDIGPPIPEADELLNKFVCKNNGVLFENQLLQIGVKSEFRQNLGRMYLFYGNKTSVQFQNFSPTVVHPGDLQTQLAVQTKRVAAQVDGGAQVQQVLNIECLRDFLTPPLLSVRFRYGGAPQALTLKLPVTINKFFQPTEMAAQDFFQRWKQLSLPQQEAQKIFKANHPMDAEVTKAKLLGFGSALLDNVDPNPENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEPVSRHLCELLAQQF", "length": 977, "header": "sp|O95782-1|AP2A1_HUMAN Isoform 1 of AP-2 complex subunit alpha-1 OS=Homo sapiens OX=9606 GN=AP2A1 PE=1 SV=3 CANONICAL=O95782-1" }, "locus": { "chromosome": "19", "start_pos": 49806755, "end_pos": 49767134, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359032.10", "url": "https://www.ensembl.org/id/ENST00000359032.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000351926.4", "url": "https://www.ensembl.org/id/ENSP00000351926.4" } ] } }, { "isoform_ac": "O95782-2", "url": "", "sequence": { "sequence": "MPAVSKGDGMRGLAVFISDIRNCKSKEAEIKRINKELANIRSKFKGDKALDGYSKKKYVCKLLFIFLLGHDIDFGHMEAVNLLSSNKYTEKQIGYLFISVLVNSNSELIRLINNAIKNDLASRNPTFMCLALHCIANVGSREMGEAFAADIPRILVAGDSMDSVKQSAALCLLRLYKASPDLVPMGEWTARVVHLLNDQHMGVVTAAVSLITCLCKKNPDDFKTCVSLAVSRLSRIVSSASTDLQDYTYYFVPAPWLSVKLLRLLQCYPPPEDAAVKGRLVECLETVLNKAQEPPKSKKVQHSNAKNAILFETISLIIHYDSEPNLLVRACNQLGQFLQHRETNLRYLALESMCTLASSEFSHEAVKTHIDTVINALKTERDVSVRQRAADLLYAMCDRSNAKQIVSEMLRYLETADYAIREEIVLKVAILAEKYAVDYSWYVDTILNLIRIAGDYVSEEVWYRVLQIVTNRDDVQGYAAKTVFEALQAPACHENMVKVGGYILGEFGNLIAGDPRSSPPVQFSLLHSKFHLCSVATRALLLSTYIKFINLFPETKATIQGVLRAGSQLRNADVELQQRAVEYLTLSSVASTDVLATVLEEMPPFPERESSILAKLKRKKGPGAGSALDDGRRDPSSNDINGGMEPTPSTVSTPSPSADLLGLRAAPPPAAPPASAGAGNLLVDVFDGPAAQPSLGPTPEEAFLSPGPEDIGPPIPEADELLNKFVCKNNGVLFENQLLQIGVKSEFRQNLGRMYLFYGNKTSVQFQNFSPTVVHPGDLQTQLAVQTKRVAAQVDGGAQVQQVLNIECLRDFLTPPLLSVRFRYGGAPQALTLKLPVTINKFFQPTEMAAQDFFQRWKQLSLPQQEAQKIFKANHPMDAEVTKAKLLGFGSALLDNVDPNPENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEPVSRHLCELLAQQF", "length": 955, "header": "sp|O95782-2|AP2A1_HUMAN Isoform 2 of AP-2 complex subunit alpha-1 OS=Homo sapiens OX=9606 GN=AP2A1 PE=1 SV=3 CANONICAL=O95782-1" }, "locus": { "chromosome": "19", "start_pos": 49806755, "end_pos": 49767134, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354293.10", "url": "https://www.ensembl.org/id/ENST00000354293.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000346246.4", "url": "https://www.ensembl.org/id/ENSP00000346246.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 189, "start_aa": "Thr", "end_pos": 189, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr189", "evidence": [ { "id": "O95782", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95782" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "O95782", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95782" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 611, "start_aa": "Ser", "end_pos": 611, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser611", "evidence": [ { "id": "O95782", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95782" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "O95782", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95782" } ] } ], "phosphorylation": [ { "start_pos": 517, "end_pos": 517, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95782" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser517" }, { "start_pos": 626, "end_pos": 626, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "iPTMnet", "id": "O95782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95782" } ], "site_lbl": "Ser626" }, { "start_pos": 636, "end_pos": 636, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95782" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser636" }, { "start_pos": 637, "end_pos": 637, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95782" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser637" }, { "start_pos": 649, "end_pos": 649, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95782" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser649" }, { "start_pos": 650, "end_pos": 650, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95782" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "phospho.ELM", "id": "O95782", "url": "http://phospho.elm.eu.org/byAccession/O95782.html" } ], "site_lbl": "Thr650" }, { "start_pos": 652, "end_pos": 652, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O95782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95782" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O95782", "url": "http://phospho.elm.eu.org/byAccession/O95782.html" } ], "site_lbl": "Ser652" }, { "start_pos": 653, "end_pos": 653, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "O95782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95782" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "phospho.ELM", "id": "O95782", "url": "http://phospho.elm.eu.org/byAccession/O95782.html" } ], "site_lbl": "Thr653" }, { "start_pos": 655, "end_pos": 655, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O95782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95782" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O95782", "url": "http://phospho.elm.eu.org/byAccession/O95782.html" } ], "site_lbl": "Ser655" }, { "start_pos": 657, "end_pos": 657, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95782", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95782" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser657" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Opposing motor activities of dynein and kinesin determine retention and transport of MHC class II-containing compartments.", "journal": "Journal of cell science", "date": "1999", "authors": "Wubbolts R, Fernandez-Borja M, Jordens I, Reits E, Dusseljee S, Echeverri C, Vallee RB, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10036229", "url": "https://glygen.org/publication/PubMed/10036229" } ] }, { "title": "Identification of destabilizing residues in HLA class II-selected bacteriophage display libraries edited by HLA-DM.", "journal": "European journal of immunology", "date": "1999", "authors": "Raddrizzani L, Bono E, Vogt AB, Kropshofer H, Gallazzi F, Sturniolo T, Hammerling GJ, Sinigaglia F, Hammer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10064083", "url": "https://glygen.org/publication/PubMed/10064083" } ] }, { "title": "Cathepsin S required for normal MHC class II peptide loading and germinal center development.", "journal": "Immunity", "date": "1999", "authors": "Shi GP, Villadangos JA, Dranoff G, Small C, Gu L, Haley KJ, Riese R, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10072072", "url": "https://glygen.org/publication/PubMed/10072072" } ] }, { "title": "Molecular and ligand-binding characterization of the sigma-receptor in the Jurkat human T lymphocyte cell line.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "1999", "authors": "Ganapathy ME, Prasad PD, Huang W, Seth P, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191" } ], "reference": [ { "type": "PubMed", "id": "10087012", "url": "https://glygen.org/publication/PubMed/10087012" } ] }, { "title": "The beta2-adrenergic receptor/betaarrestin complex recruits the clathrin adaptor AP-2 during endocytosis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Laporte SA, Oakley RH, Zhang J, Holt JA, Ferguson SS, Caron MG, Barak LS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "10097102", "url": "https://glygen.org/publication/PubMed/10097102" } ] }, { "title": "Molecular cloning of a lipolysis-stimulated remnant receptor expressed in the liver.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yen FT, Masson M, Clossais-Besnard N, Andre P, Grosset JM, Bougueleret L, Dumas JB, Guerassimenko O, Bihain BE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "10224102", "url": "https://glygen.org/publication/PubMed/10224102" } ] }, { "title": "Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Tebar F, Bohlander SK, Sorkin A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "10436022", "url": "https://glygen.org/publication/PubMed/10436022" } ] }, { "title": "Human acyl-CoA:cholesterol acyltransferase-1 in the endoplasmic reticulum contains seven transmembrane domains.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Lin S, Cheng D, Liu MS, Chen J, Chang TY", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964038" } ], "reference": [ { "type": "PubMed", "id": "10438503", "url": "https://glygen.org/publication/PubMed/10438503" } ] }, { "title": "Direct transport of newly synthesized HLA-DR from the trans-Golgi network to major histocompatibility complex class II containing compartments (MIICS) demonstrated using a novel tyrosine-sulfated chimera.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Davidson HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": 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"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10540230", "url": "https://glygen.org/publication/PubMed/10540230" } ] }, { "title": "The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Cestra G, Castagnoli L, Dente L, Minenkova O, Petrelli A, Migone N, Hoffmuller U, Schneider-Mergener J, Cesareni G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10542231", "url": "https://glygen.org/publication/PubMed/10542231" } ] }, { "title": "Spatial control of coated-pit dynamics in living cells.", "journal": "Nature cell biology", "date": "1999", "authors": "Gaidarov I, Santini F, Warren RA, Keen JH", "evidence": [ { 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"evidence": [ { "id": "45922390", "url": "http://www.informatics.jax.org/homology/45922390", "database": "MGI" }, { "id": "O95782", "url": "https://omabrowser.org/oma/group/O95782/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "postsynaptic neurotransmitter receptor internalization", "id": "GO:0098884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098884", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "Golgi to endosome transport", "id": "GO:0006895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006895", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "negative regulation of hyaluronan biosynthetic process", "id": "GO:1900126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900126", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 14, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "endocytic vesicle membrane", "id": "GO:0030666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030666", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "clathrin-coated endocytic vesicle membrane", "id": "GO:0030669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030669", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "AP-2 adaptor complex", "id": "GO:0030122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030122", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": 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"https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor binding", "id": "GO:0050750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050750", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "O95782", "url": "https://www.uniprot.org/uniprot/O95782" } ], "pmid": "" }, { "name": "clathrin adaptor activity", "id": "GO:0035615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035615", "evidence": [ { 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