{ "uniprot_canonical_ac": "O00189-1", "uniprot_ac": "O00189", "uniprot_id": "AP4M1_HUMAN", "mass": { "chemical_mass": 49977.0, "monoisotopic_mass": 49977.0 }, "refseq": { "ac": "NP_004713", "name": "AP-4 complex subunit mu-1 isoform 1", "summary": "This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713" }, "gene_names": [ { "name": "AP4M1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00189", "id": "O00189" }, { "name": "AP4M1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713", "id": "NP_004713" }, { "name": "CPSQ3; MU-4; MU-ARP2; SPG50", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713", "id": "NP_004713" }, { "name": "MUARP2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00189", "id": "O00189" } ], "protein_names": [ { "name": "AP-4 complex subunit mu-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00189" }, { "name": "AP-4 adaptor complex mu subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00189" }, { "name": "AP-4 complex subunit mu-1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713", "id": "NP_004713" }, { "name": "Adaptor-related protein complex 4 subunit mu-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00189" }, { "name": "Mu subunit of AP-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00189" }, { "name": "Mu-adaptin-related protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00189" }, { "name": "Mu4-adaptin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00189" }, { "name": "mu-ARP2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00189" }, { "name": "mu-adaptin-related protein-2; adaptor-related protein complex AP-4 mu4 subunit; mu subunit of AP-4; AP-4 complex subunit mu-1; mu4-adaptin; adapter-related protein complex 4 mu-1 subunit; adapter-related protein complex 4 subunit mu-1; AP-4 adaptor complex mu subunit; adaptor related protein complex 4 mu 1 subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713", "id": "NP_004713" }, { "name": "mu4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00189" } ], "function": [ { "annotation": "A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.", "evidence": [ { "database": "RefSeq", "id": "NP_004713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713" }, { "database": "PubMed", "id": "33884525", "url": "https://glygen.org/publication/PubMed/33884525" } ] }, { "annotation": "Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10436028, PubMed:11139587, PubMed:10066790, PubMed:11802162, PubMed:20230749). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system (PubMed:11139587, PubMed:20230749). It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons (By similarity). Within AP-4, the mu-type subunit AP4M1 is directly involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos (PubMed:10436028, PubMed:11139587, PubMed:26544806, PubMed:20230749). The adaptor protein complex 4 (AP-4) may also recognize other types of sorting signal (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprot/O00189#function" }, { "database": "PubMed", "id": "20230749", "url": "https://glygen.org/publication/PubMed/20230749" }, { "database": "PubMed", "id": "26544806", "url": "https://glygen.org/publication/PubMed/26544806" }, { "database": "UniProtKB", "id": "Q9JKC7", "url": "https://www.uniprot.org/uniprot/Q9JKC7#function" }, { "database": "UniProtKB", "id": "E2RED8", "url": "https://www.uniprot.org/uniprot/E2RED8#function" }, { "database": "PubMed", "id": "10066790", "url": "https://glygen.org/publication/PubMed/10066790" }, { "database": "UniProtKB", "id": "Q2PWT8", "url": "https://www.uniprot.org/uniprot/Q2PWT8#function" }, { "database": "PubMed", "id": "11802162", "url": "https://glygen.org/publication/PubMed/11802162" }, { "database": "PubMed", "id": "10436028", "url": "https://glygen.org/publication/PubMed/10436028" }, { "database": "PubMed", "id": "11139587", "url": "https://glygen.org/publication/PubMed/11139587" }, { "database": "UniProtKB", "id": "C9JC87", "url": "https://www.uniprot.org/uniprot/C9JC87#function" }, { "database": "UniProtKB", "id": "PIRNR005992", "url": "https://www.uniprot.org/uniprot/PIRNR005992#function" }, { "database": "UniProtKB", "id": "C9IZL5", "url": "https://www.uniprot.org/uniprot/C9IZL5#function" } ] }, { "annotation": "Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.", "evidence": [ { "database": "RefSeq", "id": "NP_004713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713" }, { "database": "PubMed", "id": "36371792", "url": "https://glygen.org/publication/PubMed/36371792" } ] }, { "annotation": "This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713" } ] } ], "disease": [ { "disease_id": "DOID:0110802", "recommended_name": { "id": "DOID:0110802", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110802", "name": "hereditary spastic paraplegia 50", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1." }, "synonyms": [ { "id": "DOID:0110802", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110802", "name": "SPG50", "description": "" }, { "id": "DOID:0110802", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110802", "name": "autosomal recessive spastic paraplegia 50", "description": "" }, { "id": "DOID:0110802", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110802", "name": "AP-4 deficiency syndrome", "description": "" }, { "id": "DOID:0110802", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110802", "name": "AP-4-Associated Hereditary Spastic Paraplegia", "description": "" }, { "id": "DOID:0110802", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110802", "name": "adaptor protein complex 4 deficiency", "description": "" }, { "id": "MONDO:0013048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013048", "name": "hereditary spastic paraplegia 50", "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene." }, { "id": "MONDO:0013048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013048", "name": "AP4M1 hereditary spastic paraplegia", "description": "" }, { "id": "MONDO:0013048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013048", "name": "SPG50", "description": "" }, { "id": "MONDO:0013048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013048", "name": "autosomal recessive spastic paraplegia 50", "description": "" }, { "id": "MONDO:0013048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013048", "name": "hereditary spastic paraplegia caused by mutation in AP4M1", "description": "" }, { "id": "MONDO:0013048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013048", "name": "hereditary spastic paraplegia type 50", "description": "" }, { "id": "MONDO:0013048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013048", "name": "cerebral palsy, spastic quadriplegic, 3", "description": "" }, { "id": "MONDO:0013048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013048", "name": "cerebral palsy, spastic quadriplegic, 3, formerly", "description": "" }, { "id": "MONDO:0013048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013048", "name": "spastic paraplegia 50, autosomal recessive", "description": "" }, { "id": "MIM:612936", "resource": "MIM", "url": "https://www.omim.org/entry/612936", "name": "Spastic paraplegia 50, autosomal recessive", "description": "Spastic paraplegia 50, autosomal recessive" } ], "evidence": [ { "id": "612936", "database": "MIM", "url": "https://www.omim.org/entry/612936" } ] } ], "snv": [ { "evidence": [ { "id": "O00189", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00189" } ], "glycoeffect": [], "start_pos": 227, "end_pos": 227, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "100105051", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R227", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00189" } ], "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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00189", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00189" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": 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"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": "O00189", "url": "https://www.uniprot.org/uniprot/O00189" } ], "common_name": "Human" } ], "gene": [ { "name": "AP4M1", "url": "https://www.uniprot.org/uniprot/O00189", "locus": { "chromosome": "7", "start_pos": 100110345, "end_pos": 100101549, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000221838", "url": "https://www.ensembl.org/id/ENSG00000221838" } ] } } ], "crossref": [ { "id": "ENSG00000221838", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221838", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00189", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00189", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd09253", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd09253", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd14838", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14838", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "AP4M1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=AP4M1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9179", "url": "https://www.ncbi.nlm.nih.gov/gene/9179", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "574", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=574", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "C9JWL4", "url": "https://www.ebi.ac.uk/intact/interactors/id:C9JWL4*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "H7C0A0", "url": "https://www.ebi.ac.uk/intact/interactors/id:H7C0A0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "O00189", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00189*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001392", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001392", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011012", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011012", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018240", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018240", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022775", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022775", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR028565", "url": "https://www.ebi.ac.uk/interpro/entry/IPR028565", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036168", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036168", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9179", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9179", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602296", "url": "http://www.omim.org/entry/602296", "database": "MIM", "categories": [ "Other" ] }, { "id": "612936", "url": "http://www.omim.org/entry/612936", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00189", "url": "https://www.nextprot.org/entry/NX_O00189", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "DYGYIQN", "url": "https://omabrowser.org/oma/group/DYGYIQN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5353102at2759", "url": "http://www.orthodb.org/?query=5353102at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10529", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10529", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10529:SF270", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10529:SF270", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3L81", "url": "https://www.rcsb.org/structure/3L81", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4MDR", "url": "https://www.rcsb.org/structure/4MDR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00928", "url": "http://pfam.xfam.org/family/PF00928", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01217", "url": "http://pfam.xfam.org/family/PF01217", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00189", "url": "https://pharos.nih.gov/targets/O00189", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00189", "url": "http://purl.obolibrary.org/obo/PR_O00189", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_004713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9IZL5", "url": "https://www.uniprot.org/uniprot/C9IZL5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9IZL5-1", "url": "https://www.uniprot.org/uniprot/C9IZL5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JC87", "url": "https://www.uniprot.org/uniprot/C9JC87", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JC87-1", "url": "https://www.uniprot.org/uniprot/C9JC87-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JMG3", "url": "https://www.uniprot.org/uniprot/C9JMG3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JMG3-1", "url": "https://www.uniprot.org/uniprot/C9JMG3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JWL4", "url": "https://www.uniprot.org/uniprot/C9JWL4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JWL4-1", "url": "https://www.uniprot.org/uniprot/C9JWL4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCC5", "url": "https://www.uniprot.org/uniprot/F8WCC5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCC5-1", "url": "https://www.uniprot.org/uniprot/F8WCC5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCR6", "url": "https://www.uniprot.org/uniprot/F8WCR6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCR6-1", "url": "https://www.uniprot.org/uniprot/F8WCR6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDR3", "url": "https://www.uniprot.org/uniprot/F8WDR3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDR3-1", "url": "https://www.uniprot.org/uniprot/F8WDR3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y6K1", "url": "https://www.uniprot.org/uniprot/H0Y6K1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y6K1-1", "url": "https://www.uniprot.org/uniprot/H0Y6K1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZV3", "url": "https://www.uniprot.org/uniprot/H7BZV3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZV3-1", "url": "https://www.uniprot.org/uniprot/H7BZV3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C0A0", "url": "https://www.uniprot.org/uniprot/H7C0A0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C0A0-1", "url": "https://www.uniprot.org/uniprot/H7C0A0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00189", "url": "https://www.uniprot.org/uniprot/O00189", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00189-1", "url": "https://www.uniprot.org/uniprot/O00189-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIRHSGLYLVVTTSENVSPFSLLELLSRLATLLGDYCGSLGEGTISRNVALVYELLDEVLDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKSFLPSGSEMRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGALRWDLPRVQGGSQLSGLFQMDVPGPPGPPSHGLSTSASPLGLGPASLSFELPRHTCSGLQVRFLRLAFRPCGNANPHKWVRHLSHSDAYVIRI", "length": 453, "header": "sp|O00189-1|AP4M1_HUMAN Isoform 1 of AP-4 complex subunit mu-1 OS=Homo sapiens OX=9606 GN=AP4M1 PE=1 SV=2 CANONICAL=O00189-1" }, "isoforms": [ { "isoform_ac": "C9IZL5-1", "url": "", "sequence": { "sequence": "MLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKSFLPSGSEMRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGALRWDLPRVQGGSQLSGLFQMDVPGPPGPPSHGLSTSASPLGLGPASLSFELPRHTCSGLQVRFLRLAFRPCGNANPHKWVRHLSHSDAYVIRI", "length": 325, "header": "tr|C9IZL5-1|C9IZL5_HUMAN Computationally mapped isoform of AP-4 complex subunit mu-1 OS=Homo sapiens OX=9606 GN=AP4M1 PE=1 SV=1 CANONICAL=O00189-1" }, "locus": { "chromosome": "7", "start_pos": 100106879, "end_pos": 100103442, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000422582.5", "url": "https://www.ensembl.org/id/ENST00000422582.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000406676.1", "url": "https://www.ensembl.org/id/ENSP00000406676.1" } ] } }, { "isoform_ac": "C9JC87-1", "url": "", "sequence": { "sequence": "MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMVTSGGRRHHHGRHFIHIRHSGLYLVVTTSENVSPFSLLELLSRLATLLGDYCGSLGEGTISRNVALVYELLDEVLDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKSFLPSGSEMRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGALRWDLPRVQGGSQLSGLFQMDVPGPPGPPSHGLSTSASPLGLGPASLSFELPRHTCSGLQVRFLRLAFRPCGNANPHKWVRHLSHSDAYVIRI", "length": 460, "header": "tr|C9JC87-1|C9JC87_HUMAN Computationally mapped isoform of AP-4 complex subunit mu-1 OS=Homo sapiens OX=9606 GN=AP4M1 PE=1 SV=1 CANONICAL=O00189-1" }, "locus": { "chromosome": "7", "start_pos": 100106879, "end_pos": 100101715, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429084.5", "url": "https://www.ensembl.org/id/ENST00000429084.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000403663.1", "url": "https://www.ensembl.org/id/ENSP00000403663.1" } ] } }, { "isoform_ac": "C9JMG3-1", "url": "", "sequence": { "sequence": "MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIRHSGLYLVVTTSENDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKSFLPSGSEMRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSG", "length": 265, "header": "tr|C9JMG3-1|C9JMG3_HUMAN Computationally mapped isoform of Adaptor related protein complex 4 subunit mu 1 OS=Homo sapiens OX=9606 GN=AP4M1 PE=1 SV=8 CANONICAL=O00189-1" }, "locus": { "chromosome": "7", "start_pos": 100105537, "end_pos": 100101715, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439416.5", "url": "https://www.ensembl.org/id/ENST00000439416.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000414286.1", "url": "https://www.ensembl.org/id/ENSP00000414286.1" } ] } }, { "isoform_ac": "C9JWL4-1", "url": "", "sequence": { "sequence": "MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKSFLPSGSEMRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGALRWDLPRVQGGSQLSGLFQ", "length": 311, "header": "tr|C9JWL4-1|C9JWL4_HUMAN Computationally mapped isoform of AP-4 complex subunit mu-1 OS=Homo sapiens OX=9606 GN=AP4M1 PE=1 SV=1 CANONICAL=O00189-1" }, "locus": { "chromosome": "7", "start_pos": 100106514, "end_pos": 100101715, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438383.5", "url": "https://www.ensembl.org/id/ENST00000438383.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000401613.1", "url": "https://www.ensembl.org/id/ENSP00000401613.1" } ] } }, { "isoform_ac": "F8WCC5-1", "url": "", "sequence": { "sequence": "MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIRHSGLYLVVTTSENVSPFSLLELLSRTMAMYRPHPRRC", "length": 97, "header": "tr|F8WCC5-1|F8WCC5_HUMAN Computationally mapped isoform of Adaptor related protein complex 4 subunit mu 1 OS=Homo sapiens OX=9606 GN=AP4M1 PE=1 SV=1 CANONICAL=O00189-1" }, "locus": { "chromosome": "7", "start_pos": 100103445, "end_pos": 100101715, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445208.5", "url": "https://www.ensembl.org/id/ENST00000445208.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000400598.1", "url": "https://www.ensembl.org/id/ENSP00000400598.1" } ] } }, { "isoform_ac": "F8WCR6-1", "url": "", "sequence": { "sequence": "MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIRHSGLYLVVTTSENVSPFSLLELLSRLATLLGDYCGSLGEGTISRNVALVYELLDEVLDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNVMGQESGSMKSRFTAL", "length": 218, "header": "tr|F8WCR6-1|F8WCR6_HUMAN Computationally mapped isoform of Adaptor related protein complex 4 subunit mu 1 OS=Homo sapiens OX=9606 GN=AP4M1 PE=1 SV=1 CANONICAL=O00189-1" }, "locus": { "chromosome": "7", "start_pos": 100105287, "end_pos": 100101715, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446007.5", "url": "https://www.ensembl.org/id/ENST00000446007.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000396928.1", "url": "https://www.ensembl.org/id/ENSP00000396928.1" } ] } }, { "isoform_ac": "F8WDR3-1", "url": "", "sequence": { "sequence": "MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMLGVVAGACNPIYSGS", "length": 64, "header": "tr|F8WDR3-1|AP4M1_HUMAN Computationally mapped isoform of AP-4 complex subunit mu-1 OS=Homo sapiens OX=9606 GN=AP4M1 PE=1 SV=1 CANONICAL=O00189-1" }, "locus": { "chromosome": "7", "start_pos": 100102290, "end_pos": 100101715, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394061.7", "url": "https://www.ensembl.org/id/ENST00000394061.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000377625.3", "url": "https://www.ensembl.org/id/ENSP00000377625.3" } ] } }, { "isoform_ac": "H0Y6K1-1", "url": "", "sequence": { "sequence": "XFHPPVRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIRHSGLYLVVTTSENVSPFSLLELLSRLATLLGDYCGSLGEGTISRNVALVYELLDEVLDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNRCALA", "length": 193, "header": "tr|H0Y6K1-1|H0Y6K1_HUMAN Computationally mapped isoform of Adaptor related protein complex 4 subunit mu 1 OS=Homo sapiens OX=9606 GN=AP4M1 PE=1 SV=1 CANONICAL=O00189-1" }, "locus": { "chromosome": "7", "start_pos": 100105061, "end_pos": 100101866, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416938.5", "url": "https://www.ensembl.org/id/ENST00000416938.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000406106.1", "url": "https://www.ensembl.org/id/ENSP00000406106.1" } ] } }, { "isoform_ac": "H7BZV3-1", "url": "", "sequence": { "sequence": "RVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGALRWDLPRVQGGSQLSGLFQRPNIVSQLSQACDGAITSRPGRLLVHPAL", "length": 160, "header": "tr|H7BZV3-1|H7BZV3_HUMAN Computationally mapped isoform of AP-4 complex subunit mu-1 OS=Homo sapiens OX=9606 GN=AP4M1 PE=1 SV=1 CANONICAL=O00189-1" }, "locus": { "chromosome": "7", "start_pos": 100110277, "end_pos": 100105257, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450807.5", "url": "https://www.ensembl.org/id/ENST00000450807.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391585.1", "url": "https://www.ensembl.org/id/ENSP00000391585.1" } ] } }, { "isoform_ac": "H7C0A0-1", "url": "", "sequence": { "sequence": "XQGELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGALRWDLPRVQGGSQLSGLFQVRFLRLAFRPCGNANPHKWVRHLSHSDAYVIRI", "length": 138, "header": "tr|H7C0A0-1|H7C0A0_HUMAN 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"MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIRHSGLYLVVTTSENVSPFSLLELLSRLATLLGDYCGSLGEGTISRNVALVYELLDEVLDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKSFLPSGSEMRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGALRWDLPRVQGGSQLSGLFQMDVPGPPGPPSHGLSTSASPLGLGPASLSFELPRHTCSGLQVRFLRLAFRPCGNANPHKWVRHLSHSDAYVIRI", "length": 453, "header": "sp|O00189-1|AP4M1_HUMAN Isoform 1 of AP-4 complex subunit mu-1 OS=Homo sapiens OX=9606 GN=AP4M1 PE=1 SV=2 CANONICAL=O00189-1" }, "locus": { "chromosome": "7", "start_pos": 100106879, "end_pos": 100101715, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359593.9", "url": "https://www.ensembl.org/id/ENST00000359593.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000352603.4", "url": "https://www.ensembl.org/id/ENSP00000352603.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "AP-4, a novel protein complex related to clathrin adaptors.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Dell'Angelica EC, Mullins C, Bonifacino JS", "evidence": [ { "database": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprot/O00189" } ], "reference": [ { "type": "PubMed", "id": "10066790", "url": "https://glygen.org/publication/PubMed/10066790" } ] }, { "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": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprot/O00189" }, { "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": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprot/O00189" }, { "database": "Reactome", "id": "R-HSA-432720", "url": 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"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": "AP-4 binds basolateral signals and participates in basolateral sorting in epithelial MDCK cells.", "journal": "Nature cell biology", "date": "2002", "authors": "Simmen T, Honing S, Icking A, Tikkanen R, Hunziker W", "evidence": [ { "database": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprot/O00189" } ], "reference": [ { "type": "PubMed", "id": "11802162", "url": "https://glygen.org/publication/PubMed/11802162" } ] }, { "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": "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": "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": "Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.", "journal": "Am. J. Hum. Genet.", "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": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprot/O00189" }, { "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": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprot/O00189" }, { "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" } ], "reference": [ { "type": "PubMed", "id": "20708039", "url": "https://glygen.org/publication/PubMed/20708039" } ] }, { "title": "Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.", "journal": "American journal of human genetics", "date": "2011", "authors": "Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nothen MM, Munnich A, Strom TM, Reis A, Colleaux L", "evidence": [ { "database": "Reactome", "id": "R-HSA-432720", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432720" } ], "reference": [ { "type": "PubMed", "id": "21620353", "url": "https://glygen.org/publication/PubMed/21620353" } ] }, { "title": "Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.", "journal": "American journal of human genetics", "date": "2015", "authors": "Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D", "evidence": [ { "database": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprot/O00189" } ], "reference": [ { "type": "PubMed", "id": "26544806", "url": "https://glygen.org/publication/PubMed/26544806" } ] }, { "title": "AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2017", "authors": "Mattera R, Park SY, De Pace R, Guardia CM, Bonifacino JS", "evidence": [ { "database": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprot/O00189" } ], "reference": [ { "type": "PubMed", "id": "29180427", "url": "https://glygen.org/publication/PubMed/29180427" } ] }, { "title": "The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate perinuclear distribution of AP-4 and its cargo ATG9A.", "journal": "Mol. Biol. Cell", "date": "2020", "authors": "Mattera R, Williamson CD, Ren X, Bonifacino JS", "evidence": [ { "database": "UniProtKB", "id": "O00189", "url": "https://www.uniprot.org/uniprot/O00189" } ], "reference": [ { "type": "PubMed", "id": "32073997", "url": "https://glygen.org/publication/PubMed/32073997" } ] }, { "title": "A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.", "journal": "Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology", "date": "2021", "authors": "Bellad A, Girimaji SC, Muthusamy B", "evidence": [ { "database": "RefSeq", "id": "NP_004713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713" } ], "reference": [ { "type": "PubMed", "id": "33884525", "url": "https://glygen.org/publication/PubMed/33884525" } ] }, { "title": "Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.", "journal": "Clinical genetics", "date": "2022-11-13", "authors": "Becker Aur\u00e9lie, Felici Charlotte, Lambert La\u00ebtitia, de Saint Martin Anne, Abi-Warde Marie-Th\u00e9r\u00e8se, Schaefer Elise, Zix Christian, Zamani Mina, Sadeghian Saeid, Zeighami Jawaher, Seifi Tahereh, Azizimalamiri Reza, Shariati Gholamreza, Galehdari Hamid, Selig Mareike, Ding Can, Duerinckx Sarah, Pirson Isabelle, Abramowicz Marc, Cl\u00e9ment Guillemette, Leheup Bruno, Jonveaux Philippe, Lefort Genevi\u00e8ve, Bronner Myriam, Renaud Mathilde, Bonnet C\u00e9line", "evidence": [ { "database": "RefSeq", "id": "NP_004713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713" } ], "reference": [ { "type": "PubMed", "id": "36371792", "url": "https://glygen.org/publication/PubMed/36371792" } ] }, { "title": "Alteration of clathrin light chain expression by transfection and gene disruption.", "journal": "Molecular biology of the cell", 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