{ "uniprot_canonical_ac": "O75843-1", "uniprot_ac": "O75843", "uniprot_id": "AP1G2_HUMAN", "mass": { "chemical_mass": 87117.0, "monoisotopic_mass": 87117.0 }, "refseq": { "ac": "NP_003908", "name": "AP-1 complex subunit gamma-like 2 isoform 1", "summary": "Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908" }, "gene_names": [ { "name": "AP1G2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75843", "id": "O75843" }, { "name": "AP1G2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908", "id": "NP_003908" }, { "name": "G2AD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908", "id": "NP_003908" } ], "protein_names": [ { "name": "AP-1 complex subunit gamma-like 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75843" }, { "name": "AP-1 complex subunit gamma-like 2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908", "id": "NP_003908" }, { "name": "G2ad", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75843" }, { "name": "Gamma2-adaptin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75843" }, { "name": "gamma2-adaptin; clathrin-associated/assembly/adaptor protein, large, gamma-2; AP-1 complex subunit gamma-like 2; adaptor related protein complex 1 gamma 2 subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908", "id": "NP_003908" } ], "function": [ { "annotation": "(Microbial infection) Involved in MVB-assisted maturation of hepatitis B virus (HBV).", "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843#function" }, { "database": "PubMed", "id": "16867982", "url": "https://glygen.org/publication/PubMed/16867982" }, { "database": "PubMed", "id": "17553870", "url": "https://glygen.org/publication/PubMed/17553870" } ] }, { "annotation": "Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_003908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908" } ] }, { "annotation": "Data show that gamma2-adaptin in MVB sorting specifically interacts with the ESCRT subunits Vps28 and CHMP2A.", "evidence": [ { "database": "RefSeq", "id": "NP_003908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908" }, { "database": "PubMed", "id": "20708039", "url": "https://glygen.org/publication/PubMed/20708039" } ] }, { "annotation": "Depletion of the gamma2 or mu1A (AP1M1) subunits of AP-1, but not of gamma1 (AP1G1), precludes Nef-mediated lysosomal degradation of CD4.", "evidence": [ { "database": "RefSeq", "id": "NP_003908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908" }, { "database": "PubMed", "id": "27909244", "url": "https://glygen.org/publication/PubMed/27909244" } ] }, { "annotation": "Gamma2-adaptin's ubiquitin-interacting motif mediates a specific physical interaction with the ubiquitin ligase Nedd4 and promotes ubiquitination of gamma2-adaptin", "evidence": [ { "database": "RefSeq", "id": "NP_003908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908" }, { "database": "PubMed", "id": "18772139", "url": "https://glygen.org/publication/PubMed/18772139" } ] }, { "annotation": "May function in protein sorting in late endosomes or multivesucular bodies (MVBs).", "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843#function" }, { "database": "PubMed", "id": "9733768", "url": "https://glygen.org/publication/PubMed/9733768" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O75843", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75843" } ], "glycoeffect": [], "start_pos": 458, "end_pos": 458, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "23563418", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R458", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "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 mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "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": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 369, "end_pos": 369, "sequence_org": "L", "sequence_mut": "G", "comment": "Greatly diminishes interaction with ubiquitin; when associated with G-372.", "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843" }, { "database": "PubMed", "id": "16867982", "url": "https://glygen.org/publication/PubMed/16867982" } ] }, { "start_pos": 372, "end_pos": 372, "sequence_org": "A", "sequence_mut": "G", "comment": "Greatly diminishes interaction with ubiquitin; when associated with G-369.", "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843" }, { "database": "PubMed", "id": "16867982", "url": "https://glygen.org/publication/PubMed/16867982" } ] }, { "start_pos": 372, "end_pos": 372, "sequence_org": "A", "sequence_mut": "G", "comment": "Greatly diminishes interaction with ubiquitin; when associated with G-376.", "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843" }, { "database": "PubMed", "id": "16867982", "url": "https://glygen.org/publication/PubMed/16867982" } ] }, { "start_pos": 376, "end_pos": 376, "sequence_org": "S", "sequence_mut": "G", "comment": "Greatly diminishes interaction with ubiquitin; when associated with G-372.", "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843" }, { "database": "PubMed", "id": "16867982", "url": "https://glygen.org/publication/PubMed/16867982" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "86.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "76.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "88.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "79.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75843", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75843" } ], "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 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75843" } ], "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": [ { 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843" } ], "common_name": "Human" } ], "gene": [ { "name": "AP1G2", "url": "https://www.uniprot.org/uniprot/O75843", "locus": { "chromosome": "14", "start_pos": 23559565, "end_pos": 23568070, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000213983", "url": "https://www.ensembl.org/id/ENSG00000213983" } ] } } ], "crossref": [ { "id": "ENSG00000213983", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213983", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75843", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75843", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "AP1G2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP1G2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8906", "url": "https://www.ncbi.nlm.nih.gov/gene/8906", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "556", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=556", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "H0YJ08", "url": "https://www.ebi.ac.uk/intact/interactors/id:H0YJ08*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "O75843", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75843*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002553", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002553", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008152", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008152", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008153", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008153", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013041", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013041", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017107", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017107", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8906", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8906", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603534", "url": "http://www.omim.org/entry/603534", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75843", "url": "https://www.nextprot.org/entry/NX_O75843", "database": "neXtProt", 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"https://www.rcsb.org/structure/2YMT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3ZHF", "url": "https://www.rcsb.org/structure/3ZHF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4BCX", "url": "https://www.rcsb.org/structure/4BCX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF01602", "url": "http://pfam.xfam.org/family/PF01602", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02883", "url": "http://pfam.xfam.org/family/PF02883", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75843", "url": "https://pharos.nih.gov/targets/O75843", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75843", "url": "http://purl.obolibrary.org/obo/PR_O75843", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "G3V2V9", "url": "https://www.uniprot.org/uniprot/G3V2V9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2V9-1", "url": "https://www.uniprot.org/uniprot/G3V2V9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3Z2", "url": "https://www.uniprot.org/uniprot/G3V3Z2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3Z2-1", "url": "https://www.uniprot.org/uniprot/G3V3Z2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V532", "url": "https://www.uniprot.org/uniprot/G3V532", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V532-1", "url": "https://www.uniprot.org/uniprot/G3V532-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJ08", "url": "https://www.uniprot.org/uniprot/H0YJ08", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJ08-1", "url": "https://www.uniprot.org/uniprot/H0YJ08-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJ47", "url": "https://www.uniprot.org/uniprot/H0YJ47", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YJ47-1", "url": "https://www.uniprot.org/uniprot/H0YJ47-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75843-1", "url": "https://www.uniprot.org/uniprot/O75843-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVVPSLKLQDLIEEIRGAKTQAQEREVIQKECAHIRASFRDGDPVHRHRQLAKLLYVHMLGYPAHFGQMECLKLIASSRFTDKRVGYLGAMLLLDERHDAHLLITNSIKNDLSQGIQPVQGLALCTLSTMGSAEMCRDLAPEVEKLLLQPSPYVRKKAILTAVHMIRKVPELSSVFLPPCAQLLHERHHGILLGTITLITELCERSPAALRHFRKVVPQLVHILRTLVTMGYSTEHSISGVSDPFLQVQILRLLRILGRNHEESSETMNDLLAQVATNTDTSRNAGNAVLFETVLTIMDIRSAAGLRVLAVNILGRFLLNSDRNIRYVALTSLLRLVQSDHSAVQRHRPTVVECLRETDASLSRRALELSLALVNSSNVRAMMQELQAFLESCPPDLRADCASGILLAAERFAPTKRWHIDTILHVLTTAGTHVRDDAVANLTQLIGGAQELHAYSVRRLYNALAEDISQQPLVQVAAWCIGEYGDLLLAGNCEEIEPLQVDEEEVLALLEKVLQSHMSLPATRGYALTALMKLSTRLCGDNNRIRQVVSIYGSCLDVELQQRAVEYDTLFRKYDHMRAAILEKMPLVERDGPQADEEAKESKEAAQLSEAAPVPTEPQASQLLDLLDLLDGASGDVQHPPHLDPSPGGALVHLLDLPCVPPPPAPIPDLKVFEREGVQLNLSFIRPPENPALLLITITATNFSEGDVTHFICQAAVPKSLQLQLQAPSGNTVPARGGLPITQLFRILNPNKAPLRLKLRLTYDHFHQSVQEIFEVNNLPVESWQ", "length": 785, "header": "sp|O75843-1|AP1G2_HUMAN Isoform 1 of AP-1 complex subunit gamma-like 2 OS=Homo sapiens OX=9606 GN=AP1G2 PE=1 SV=1 CANONICAL=O75843-1" }, "isoforms": [ { "isoform_ac": "G3V2V9-1", "url": "", "sequence": { "sequence": "MVVPSLKLQDLIEEIRGAKTQAQEREVIQKECAHIRASFRDGDPVHRHRQLAKLLYVHMLGYPAHFGQ", "length": 68, "header": "tr|G3V2V9-1|AP1G2_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-like 2 OS=Homo sapiens OX=9606 GN=AP1G2 PE=1 SV=1 CANONICAL=O75843-1" }, "locus": { "chromosome": "14", "start_pos": 23567314, "end_pos": 23567111, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553756.1", "url": "https://www.ensembl.org/id/ENST00000553756.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451343.1", "url": "https://www.ensembl.org/id/ENSP00000451343.1" } ] } }, { "isoform_ac": "G3V3Z2-1", "url": "", "sequence": { "sequence": "MVVPSLKLQDLIEEIRGAKTQAQEREVIQKECAHIRASFRDGDPVHRHRQLAKLLYVHMLGYPAHFGQMECLKLIASSRFTDKRVGYLGAMLLLDERHDAHLLITNSIKNDLSQGIQPVQGLALCTLSTMGSAEMC", "length": 136, "header": "tr|G3V3Z2-1|AP1G2_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-like 2 OS=Homo sapiens OX=9606 GN=AP1G2 PE=1 SV=8 CANONICAL=O75843-1" }, "locus": { "chromosome": "14", "start_pos": 23567314, "end_pos": 23566341, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556843.1", "url": "https://www.ensembl.org/id/ENST00000556843.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451504.1", "url": "https://www.ensembl.org/id/ENSP00000451504.1" } ] } }, { "isoform_ac": "G3V532-1", "url": "", "sequence": { "sequence": "MVVPSLKLQDLIEEIRGAKTQAQEREVIQKECAHIRASFRDGDPVHRHRQLAKLLYVHMLGYPAHFGQMECLKLIASSRFTDKRVGYLGAMLLLDERHDAHLLITNSIKNDLSQGIQPVQGLALCTLSTMGSAEMCRDLAPEVEKLLLQPSPYVRKKAILTAVHMIRKVPELSSVFLPPCAQLLHERHHGILLGTITLIT", "length": 200, "header": "tr|G3V532-1|AP1G2_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-like 2 OS=Homo sapiens OX=9606 GN=AP1G2 PE=1 SV=1 CANONICAL=O75843-1" }, "locus": { "chromosome": "14", "start_pos": 23567314, "end_pos": 23565861, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557189.5", "url": "https://www.ensembl.org/id/ENST00000557189.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000452153.1", "url": "https://www.ensembl.org/id/ENSP00000452153.1" } ] } }, { "isoform_ac": "H0YJ08-1", "url": "", "sequence": { "sequence": "XAGNAVLFETVLTIMDIRSAAGLRVLAVNILGRFLLNSDRNIRYVALTSLLRLVQSDHSAVQRHRPTVVECLRETDASLSRRALELSLALVNSSNVRAMMQELQAFLESCPPDLRADCASGILLAAERHHPACADNGGHPCAG", "length": 143, "header": "tr|H0YJ08-1|AP1G2_HUMAN Computationally mapped isoform of AP-1 complex subunit gamma-like 2 OS=Homo sapiens OX=9606 GN=AP1G2 PE=1 SV=1 CANONICAL=O75843-1" }, "locus": { "chromosome": "14", "start_pos": 23564631, "end_pos": 23563481, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557162.1", "url": "https://www.ensembl.org/id/ENST00000557162.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450588.1", "url": "https://www.ensembl.org/id/ENSP00000450588.1" } ] } }, { "isoform_ac": "H0YJ47-1", "url": "", "sequence": { "sequence": "EEVLALLEKVLQSHMSLPATRGYALTALMKLSTRLCGDNKAAILEKMPLVERDGPQADEEAKESKEAAQLSEAAPVPTEPQASQLLDLLDLLDGASGDVQHPPHLDPSPGGALVHLLDLPCVPPPPAPIPDLKVFEREGVQLNLSFIRPPENPALLLITITATNFSEGDVTHFICQAAVPKSLQLQLQAPSGNTVPA", "length": 197, "header": "tr|H0YJ47-1|H0YJ47_HUMAN Computationally mapped isoform of Adaptor related protein complex 1 subunit gamma 2 OS=Homo sapiens OX=9606 GN=AP1G2 PE=1 SV=1 CANONICAL=O75843-1" }, "locus": { "chromosome": "14", "start_pos": 23562406, "end_pos": 23559989, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554477.1", "url": "https://www.ensembl.org/id/ENST00000554477.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450805.1", "url": "https://www.ensembl.org/id/ENSP00000450805.1" } ] } }, { "isoform_ac": "O75843-1", "url": "", "sequence": { "sequence": "MVVPSLKLQDLIEEIRGAKTQAQEREVIQKECAHIRASFRDGDPVHRHRQLAKLLYVHMLGYPAHFGQMECLKLIASSRFTDKRVGYLGAMLLLDERHDAHLLITNSIKNDLSQGIQPVQGLALCTLSTMGSAEMCRDLAPEVEKLLLQPSPYVRKKAILTAVHMIRKVPELSSVFLPPCAQLLHERHHGILLGTITLITELCERSPAALRHFRKVVPQLVHILRTLVTMGYSTEHSISGVSDPFLQVQILRLLRILGRNHEESSETMNDLLAQVATNTDTSRNAGNAVLFETVLTIMDIRSAAGLRVLAVNILGRFLLNSDRNIRYVALTSLLRLVQSDHSAVQRHRPTVVECLRETDASLSRRALELSLALVNSSNVRAMMQELQAFLESCPPDLRADCASGILLAAERFAPTKRWHIDTILHVLTTAGTHVRDDAVANLTQLIGGAQELHAYSVRRLYNALAEDISQQPLVQVAAWCIGEYGDLLLAGNCEEIEPLQVDEEEVLALLEKVLQSHMSLPATRGYALTALMKLSTRLCGDNNRIRQVVSIYGSCLDVELQQRAVEYDTLFRKYDHMRAAILEKMPLVERDGPQADEEAKESKEAAQLSEAAPVPTEPQASQLLDLLDLLDGASGDVQHPPHLDPSPGGALVHLLDLPCVPPPPAPIPDLKVFEREGVQLNLSFIRPPENPALLLITITATNFSEGDVTHFICQAAVPKSLQLQLQAPSGNTVPARGGLPITQLFRILNPNKAPLRLKLRLTYDHFHQSVQEIFEVNNLPVESWQ", "length": 785, "header": "sp|O75843-1|AP1G2_HUMAN Isoform 1 of AP-1 complex subunit gamma-like 2 OS=Homo sapiens OX=9606 GN=AP1G2 PE=1 SV=1 CANONICAL=O75843-1" }, "locus": { "chromosome": "14", "start_pos": 23567314, "end_pos": 23559752, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397120.8", "url": "https://www.ensembl.org/id/ENST00000397120.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000380309.3", "url": "https://www.ensembl.org/id/ENSP00000380309.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75843", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75843" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Functional organization of clathrin in coats: combining electron cryomicroscopy and X-ray crystallography.", "journal": "Molecular cell", "date": "1999", "authors": "Musacchio A, Smith CJ, Roseman AM, Harrison SC, Kirchhausen T, Pearse BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "10394364", "url": "https://glygen.org/publication/PubMed/10394364" } ] }, { "title": "Characterization of a fourth adaptor-related protein complex.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Hirst J, Bright NA, Rous B, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "10436028", "url": "https://glygen.org/publication/PubMed/10436028" } ] }, { "title": "Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Aguilar RC, Boehm M, Gorshkova I, Crouch RJ, Tomita K, Saito T, Ohno H, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11139587", "url": "https://glygen.org/publication/PubMed/11139587" } ] }, { "title": "Hepatitis B virus large envelope protein interacts with gamma2-adaptin, a clathrin adaptor-related protein.", "journal": "J. Virol.", "date": "2001", "authors": "Hartmann-Stuhler C, Prange R", "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843" }, { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11333915", "url": "https://glygen.org/publication/PubMed/11333915" } ] }, { "title": "Generation of high curvature membranes mediated by direct endophilin bilayer interactions.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Farsad K, Ringstad N, Takei K, Floyd SR, Rose K, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11604418", "url": "https://glygen.org/publication/PubMed/11604418" } ] }, { "title": "GGAs: roles of the different domains and comparison with AP-1 and clathrin.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Hirst J, Lindsay MR, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11694590", "url": "https://glygen.org/publication/PubMed/11694590" } ] }, { "title": "Regulated transport of the glucose transporter GLUT4.", "journal": "Nature reviews. Molecular cell biology", "date": "2002", "authors": "Bryant NJ, Govers R, James DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "11994746", "url": "https://glygen.org/publication/PubMed/11994746" } ] }, { "title": "Definition of the consensus motif recognized by gamma-adaptin ear domains.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Mattera R, Ritter B, Sidhu SS, McPherson PS, Bonifacino JS", "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843" } ], "reference": [ { "type": "PubMed", "id": "14665628", "url": "https://glygen.org/publication/PubMed/14665628" } ] }, { "title": "Depletion of GAK/auxilin 2 inhibits receptor-mediated endocytosis and recruitment of both clathrin and clathrin adaptors.", "journal": "Journal of cell science", "date": "2005", "authors": "Lee DW, Zhao X, Zhang F, Eisenberg E, Greene LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "16155256", "url": "https://glygen.org/publication/PubMed/16155256" } ] }, { "title": "Gamma-adaptin, a novel ubiquitin-interacting adaptor, and Nedd4 ubiquitin ligase control hepatitis B virus maturation.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Rost M, Mann S, Lambert C, Doring T, Thome N, Prange R", "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843" }, { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "16867982", "url": "https://glygen.org/publication/PubMed/16867982" } ] }, { "title": "Comparative proteomics of clathrin-coated vesicles.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Borner GH, Harbour M, Hester S, Lilley KS, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "17116749", "url": "https://glygen.org/publication/PubMed/17116749" } ] }, { "title": "Hepatitis B virus maturation is sensitive to functional inhibition of ESCRT-III, Vps4, and gamma 2-adaptin.", "journal": "Journal of virology", "date": "2007-09", "authors": "Lambert Carsten, D\u00f6ring Tatjana, Prange Reinhild", "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843" } ], "reference": [ { "type": "PubMed", "id": "17553870", "url": "https://glygen.org/publication/PubMed/17553870" } ] }, { "title": "gamma2-Adaptin, a ubiquitin-interacting adaptor, is a substrate to coupled ubiquitination by the ubiquitin ligase Nedd4 and functions in the endosomal pathway.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Rost M, Doring T, Prange R", "evidence": [ { "database": "RefSeq", "id": "NP_003908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908" } ], "reference": [ { "type": "PubMed", "id": "18772139", "url": "https://glygen.org/publication/PubMed/18772139" } ] }, { "title": "Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.", "journal": "American journal of human genetics", "date": "2009", "authors": "Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "19559397", "url": "https://glygen.org/publication/PubMed/19559397" } ] }, { "title": "The clavesin family, neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Katoh Y, Ritter B, Gaffry T, Blondeau F, Honing S, McPherson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "19651769", "url": "https://glygen.org/publication/PubMed/19651769" } ] }, { "title": "Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex.", "journal": "Developmental cell", "date": "2010", "authors": "Burgos PV, Mardones GA, Rojas AL, daSilva LL, Prabhu Y, Hurley JH, Bonifacino JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "20230749", "url": "https://glygen.org/publication/PubMed/20230749" } ] }, { "title": "gamma2-Adaptin is functioning in the late endosomal sorting pathway and interacts with ESCRT-I and -III subunits.", "journal": "Biochimica et biophysica acta", "date": "2010", "authors": "Doring T, Gotthardt K, Stieler J, Prange R", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" }, { "database": "RefSeq", "id": "NP_003908", "url": 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"Journal of cell science", "date": "2017", "authors": "Tavares LA, da Silva EM, da Silva-Januario ME, Januario YC, de Cavalho JV, Czernisz ES, Mardones GA, daSilva LL", "evidence": [ { "database": "RefSeq", "id": "NP_003908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908" } ], "reference": [ { "type": "PubMed", "id": "27909244", "url": "https://glygen.org/publication/PubMed/27909244" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75843", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75843" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Alteration of clathrin light chain expression by transfection and gene disruption.", "journal": "Molecular biology of the cell", "date": "1993", "authors": "Acton SL, Wong DH, Parham P, Brodsky FM, Jackson AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "8374173", "url": "https://glygen.org/publication/PubMed/8374173" } ] }, { "title": "Role of auxilin in uncoating clathrin-coated vesicles.", "journal": "Nature", "date": "1995", "authors": "Ungewickell E, Ungewickell H, Holstein SE, Lindner R, Prasad K, Barouch W, Martin B, Greene LE, Eisenberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "8524399", "url": "https://glygen.org/publication/PubMed/8524399" } ] }, { "title": "Dynamin II binds to the trans-Golgi network.", "journal": 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gamma-adaptin-like molecule.", "journal": "FEBS Lett.", "date": "1998", "authors": "Lewin DA, Sheff D, Ooi CE, Whitney JA, Yamamoto E, Chicione LM, Webster P, Bonifacino JS, Mellman I", "evidence": [ { "database": "UniProtKB", "id": "O75843", "url": "https://www.uniprot.org/uniprot/O75843" } ], "reference": [ { "type": "PubMed", "id": "9762922", "url": "https://glygen.org/publication/PubMed/9762922" } ] } ], "pathway": [ { "id": "hsa:8906", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8906", "resource": "KEGG Pathway" }, { "id": "R-HSA-432720", "name": "Lysosome Vesicle Biogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720", "resource": "Reactome", "description": "Lysosome Vesicle Biogenesis" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZGW2-1", "protein_name": "AP-1 complex subunit gamma", "gene_name": "Ap1g2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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