{ "uniprot_canonical_ac": "Q9NVZ3-1", "uniprot_ac": "Q9NVZ3", "uniprot_id": "NECP2_HUMAN", "mass": { "chemical_mass": 28339.0, "monoisotopic_mass": 28339.0 }, "refseq": { "ac": "NP_001138749", "name": "adaptin ear-binding coat-associated protein 2 isoform 2", "summary": "This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138749" }, "gene_names": [ { "name": "NECAP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9NVZ3", "id": "Q9NVZ3" }, { "name": "NECAP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138749", "id": "NP_001138749" } ], "protein_names": [ { "name": "Adaptin ear-binding coat-associated protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9NVZ3" }, { "name": "NECAP endocytosis-associated protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NVZ3" }, { "name": "NECAP-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NVZ3" }, { "name": "adaptin ear-binding coat-associated protein 2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138749", "id": "NP_001138749" }, { "name": "adaptin-ear-binding coat-associated protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138749", "id": "NP_001138749" } ], "function": [ { "annotation": "Describes identification and characterization of rat NECAP1 and NECAP2 and their roles in endocytosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001138749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138749" }, { "database": "PubMed", "id": "14555962", "url": "https://glygen.org/publication/PubMed/14555962" } ] }, { "annotation": "Involved in endocytosis.", "evidence": [ { "database": "UniProtKB", "id": "D6RAN6", "url": "https://www.uniprot.org/uniprot/D6RAN6#function" }, { "database": "UniProtKB", "id": "ARBA00002550", "url": "https://www.uniprot.org/uniprot/ARBA00002550#function" }, { "database": "UniProtKB", "id": "Q9NVZ3", "url": "https://www.uniprot.org/uniprot/Q9NVZ3#function" }, { "database": "UniProtKB", "id": "F6SKB8", "url": "https://www.uniprot.org/uniprot/F6SKB8#function" }, { "database": "UniProtKB", "id": "H0Y970", "url": "https://www.uniprot.org/uniprot/H0Y970#function" } ] }, { "annotation": "NECAP2 does not regulate the clathrin-mediated endocytosis of these cargos, the degradation of EGFR or the recycling of transferrin along the slow, Rab11-dependent recycling pathway. We show that protein knockdown of NECAP2 leads to enlarged early endosomes and causes the loss of the clathrin adapter AP-1 from the organelle.", "evidence": [ { "database": "RefSeq", "id": "NP_001138749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138749" }, { "database": "PubMed", "id": "27206861", "url": "https://glygen.org/publication/PubMed/27206861" } ] }, { "annotation": "This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001138749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138749" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "81.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "89.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157191", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157191" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9NVZ3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NVZ3" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "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", 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"end_pos": 16440762, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000459640.5", "url": "https://www.ensembl.org/id/ENST00000459640.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000421335.1", "url": "https://www.ensembl.org/id/ENSP00000421335.1" } ] } }, { "isoform_ac": "H0Y970-1", "url": "", "sequence": { "sequence": "XGYESVLCVKPDVHVYRIPPRATNRGYRAAEWQLDQPSWSGRLRITAKGQMAYIKLEDRTSGG", "length": 63, "header": "tr|H0Y970-1|NECP2_HUMAN Computationally mapped isoform of Adaptin ear-binding coat-associated protein 2 OS=Homo sapiens OX=9606 GN=NECAP2 PE=1 SV=1 CANONICAL=Q9NVZ3-1" }, "locus": { "chromosome": "1", "start_pos": 16449098, "end_pos": 16440772, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513161.1", "url": "https://www.ensembl.org/id/ENST00000513161.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000423213.1", "url": "https://www.ensembl.org/id/ENSP00000423213.1" } ] } }, { "isoform_ac": "Q9NVZ3-1", "url": "", "sequence": { "sequence": "MEESGYESVLCVKPDVHVYRIPPRATNRGYRAAEWQLDQPSWSGRLRITAKGQMAYIKLEDRTSGELFAQAPVDQFPGTAVESVTDSSRYFVIRIEDGNGRRAFIGIGFGDRGDAFDFNVALQDHFKWVKQQCEFAKQAQNPDQGPKLDLGFKEGQTIKLNIANMKKKEGAAGNPRVRPASTGGLSLLPPPPGGKTSTLIPPPGEQLAVGGSLVQPAVAPSSGGAPVPWPQPNPATADIWGDFTKSTGSTSSQTQPGTGWVQF", "length": 263, "header": "sp|Q9NVZ3-1|NECP2_HUMAN Isoform 1 of Adaptin ear-binding coat-associated protein 2 OS=Homo sapiens OX=9606 GN=NECAP2 PE=1 SV=1 CANONICAL=Q9NVZ3-1" }, "locus": { "chromosome": "1", "start_pos": 16458887, "end_pos": 16440762, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000337132.10", "url": "https://www.ensembl.org/id/ENST00000337132.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000338746.5", "url": "https://www.ensembl.org/id/ENSP00000338746.5" } ] } }, { "isoform_ac": "Q9NVZ3-2", "url": "", "sequence": { "sequence": "MEESGYESVLCVKPDVHVYRIPPRATNRGYRAAEWQLDQPSWSGRLRITAKGQMAYIKLEDRTSGELFAQAPVDQFPGTAVESVTDSSRYFVIRIEDGNGRRAFIGIGFGDRGDAFDFNVALQDHFKWVKQQCEFAKQAQNPDQGPKLDLGFKEGQTIKLNIANMKKKEGAAGNPRVRPASTGGLSLLPPPPGGKTSTLIPPPGEQLAVGGSLVQPAVAPSSDQLPARPSQAQAGSSSDLSTVFPHVTSGKALPHLGQRKEDEALLSWPVFGA", "length": 273, "header": "sp|Q9NVZ3-2|NECP2_HUMAN Isoform 2 of Adaptin ear-binding coat-associated protein 2 OS=Homo sapiens OX=9606 GN=NECAP2 PE=1 SV=1 CANONICAL=Q9NVZ3-1" }, "locus": { "chromosome": "1", "start_pos": 16458993, "end_pos": 16440762, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443980.6", "url": "https://www.ensembl.org/id/ENST00000443980.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000391942.2", "url": "https://www.ensembl.org/id/ENSP00000391942.2" } ] } }, { "isoform_ac": "Q9NVZ3-3", "url": "", "sequence": { "sequence": "MEESGYESVLCVKPDVHVYRIPPRATNRGYRAAEWQLDQPSWSGRLRITAKGQMAYIKLEDRTSGELFAQAPVDQFPGTAVESVTDSSRYFVIRIEDGNGRRAFIGIGFGDRGDAFDFNVALQDHFKWVKQQCEFAKQAQNPDQGPKLDLGFKEGQTIKLNIAVSSTLAWLW", "length": 172, "header": "sp|Q9NVZ3-3|NECP2_HUMAN Isoform 3 of Adaptin ear-binding coat-associated protein 2 OS=Homo sapiens OX=9606 GN=NECAP2 PE=1 SV=1 CANONICAL=Q9NVZ3-1" }, "locus": {} }, { "isoform_ac": "Q9NVZ3-4", "url": "", "sequence": { "sequence": "MEESGAAEWQLDQPSWSGRLRITAKGQMAYIKLEDRTSGELFAQAPVDQFPGTAVESVTDSSRYFVIRIEDGNGRRAFIGIGFGDRGDAFDFNVALQDHFKWVKQQCEFAKQAQNPDQGPKLDLGFKEGQTIKLNIANMKKKEGAAGNPRVRPASTGGLSLLPPPPGGKTSTLIPPPGEQLAVGGSLVQPAVAPSSGGAPVPWPQPNPATADIWGDFTKSTGSTSSQTQPGTGWVQF", "length": 237, "header": "sp|Q9NVZ3-4|NECP2_HUMAN Isoform 4 of Adaptin ear-binding coat-associated protein 2 OS=Homo sapiens OX=9606 GN=NECAP2 PE=1 SV=1 CANONICAL=Q9NVZ3-1" }, "locus": { "chromosome": "1", "start_pos": 16458887, "end_pos": 16440762, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457722.6", "url": "https://www.ensembl.org/id/ENST00000457722.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000407091.2", "url": "https://www.ensembl.org/id/ENSP00000407091.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q9NVZ3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NVZ3" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" } ] } ], "phosphorylation": [ { "start_pos": 181, "end_pos": 181, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NVZ3", "url": "https://www.uniprot.org/uniprot/Q9NVZ3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9NVZ3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NVZ3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "Q9NVZ3", "url": "http://phospho.elm.eu.org/byAccession/Q9NVZ3.html" } ], "site_lbl": "Ser181" }, { "start_pos": 186, "end_pos": 186, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NVZ3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NVZ3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser186" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The beta2-adrenergic receptor/betaarrestin complex recruits the clathrin adaptor AP-2 during endocytosis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Laporte SA, Oakley RH, Zhang J, Holt JA, Ferguson SS, Caron MG, Barak LS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "10097102", "url": "https://glygen.org/publication/PubMed/10097102" } ] }, { "title": "Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Tebar F, Bohlander SK, Sorkin A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "10436022", "url": "https://glygen.org/publication/PubMed/10436022" } ] }, { "title": "Essential role of phosphoinositide metabolism in synaptic vesicle recycling.", "journal": "Cell", "date": "1999", "authors": "Cremona O, Di Paolo G, Wenk MR, Luthi A, Kim WT, Takei K, Daniell L, Nemoto Y, Shears SB, Flavell RA, McCormick DA, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10535736", "url": "https://glygen.org/publication/PubMed/10535736" } ] }, { "title": "The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Cestra G, Castagnoli L, Dente L, Minenkova O, Petrelli A, Migone N, Hoffmuller U, Schneider-Mergener J, Cesareni G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10542231", "url": "https://glygen.org/publication/PubMed/10542231" } ] }, { "title": "Spatial control of coated-pit dynamics in living cells.", "journal": "Nature cell biology", "date": "1999", "authors": "Gaidarov I, Santini F, Warren RA, Keen JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10559856", "url": "https://glygen.org/publication/PubMed/10559856" } ] }, { "title": "Functional partnership between amphiphysin and dynamin in clathrin-mediated endocytosis.", "journal": "Nature cell biology", "date": "1999", "authors": "Takei K, Slepnev VI, Haucke V, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10559861", "url": "https://glygen.org/publication/PubMed/10559861" } ] }, { "title": "Phosphatidylinositol-3-OH kinases are Rab5 effectors.", "journal": "Nature cell biology", "date": "1999", "authors": "Christoforidis S, Miaczynska M, Ashman K, Wilm M, Zhao L, Yip SC, Waterfield MD, Backer JM, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10559924", "url": "https://glygen.org/publication/PubMed/10559924" } ] }, { "title": "The epsins define a family of proteins that interact with components of the clathrin coat and contain a new protein module.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Rosenthal JA, Chen H, Slepnev VI, Pellegrini L, Salcini AE, Di Fiore PP, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "10567358", "url": "https://glygen.org/publication/PubMed/10567358" } ] }, { "title": "The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Doria M, Salcini AE, Colombo E, Parslow TG, Pelicci PG, Di Fiore PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "10613896", "url": "https://glygen.org/publication/PubMed/10613896" } ] }, { "title": "Role of cyclin G-associated kinase in uncoating clathrin-coated vesicles from non-neuronal cells.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Greener T, Zhao X, Nojima H, Eisenberg E, Greene LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10625686", "url": "https://glygen.org/publication/PubMed/10625686" } ] }, { "title": "The class II phosphoinositide 3-kinase PI3K-C2alpha is concentrated in the trans-Golgi network and present in clathrin-coated vesicles.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Domin J, Gaidarov I, Smith ME, Keen JH, Waterfield MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "10766823", "url": "https://glygen.org/publication/PubMed/10766823" } ] }, { "title": "Cytosolic adaptor protein Dab2 is an intracellular ligand of endocytic receptor gp600/megalin.", "journal": "The Biochemical journal", "date": "2000", "authors": "Oleinikov AV, Zhao J, Makker SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "10769163", "url": "https://glygen.org/publication/PubMed/10769163" } ] }, { "title": "The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome.", "journal": "Molecular cell", "date": "2000", "authors": "Kleijnen MF, Shih AH, Zhou P, Kumar S, Soccio RE, Kedersha NL, Gill G, Howley PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "10983987", "url": "https://glygen.org/publication/PubMed/10983987" } ] }, { "title": "Multiple C-terminal motifs of the 46-kDa mannose 6-phosphate receptor tail contribute to efficient binding of medium chains of AP-2 and AP-3.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Storch S, Braulke T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "11071885", "url": "https://glygen.org/publication/PubMed/11071885" } ] }, { "title": "Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Mah AL, Perry G, Smith MA, Monteiro MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "11076969", "url": "https://glygen.org/publication/PubMed/11076969" } ] }, { "title": "All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis.", "journal": "Journal of cell science", "date": "2000", "authors": "Modregger J, Ritter B, Witter B, Paulsson M, Plomann M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11082044", "url": "https://glygen.org/publication/PubMed/11082044" } ] }, { "title": "Characterization of long cDNA clones from human adult spleen.", "journal": "DNA Res.", "date": "2000", "authors": "Hirosawa M., Kikuno R., Nagase T., Ohara O., Okumura K., Hattori A.", "evidence": [ { "database": "UniProtKB", "id": "Q9NVZ3", "url": "https://www.uniprot.org/uniprot/Q9NVZ3" } ], "reference": [ { "type": "PubMed", "id": "11214971", "url": "https://glygen.org/publication/PubMed/11214971" } ] }, { "title": "Clathrin uncoating: Auxilin comes to life.", "journal": "Current biology : CB", "date": "2001", "authors": "Lemmon SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11231140", "url": "https://glygen.org/publication/PubMed/11231140" } ] }, { "title": "The class II phosphoinositide 3-kinase C2alpha is activated by clathrin and regulates clathrin-mediated membrane trafficking.", "journal": "Molecular cell", "date": "2001", "authors": "Gaidarov I, Smith ME, Domin J, Keen JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11239472", "url": "https://glygen.org/publication/PubMed/11239472" } ] }, { "title": "Disabled-2 colocalizes with the LDLR in clathrin-coated pits and interacts with AP-2.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2001", "authors": "Morris SM, Cooper JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "11247302", "url": "https://glygen.org/publication/PubMed/11247302" } ] }, { "title": "Human stoned B interacts with AP-2 and synaptotagmin and facilitates clathrin-coated vesicle uncoating.", "journal": "EMBO reports", "date": "2001", "authors": "Walther K, Krauss M, Diril MK, Lemke S, Ricotta D, Honing S, Kaiser S, Haucke V", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856825", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856825" } ], "reference": [ { "type": "PubMed", "id": "11454741", "url": "https://glygen.org/publication/PubMed/11454741" } ] }, { "title": "Multiple interactions of auxilin 1 with clathrin and the AP-2 adaptor complex.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Scheele U, Kalthoff C, Ungewickell E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11470803", "url": "https://glygen.org/publication/PubMed/11470803" } ] }, { "title": "Phosphorylation of threonine 156 of the mu2 subunit of the AP2 complex is essential for endocytosis in vitro and in vivo.", "journal": "Current biology : CB", "date": "2001", "authors": "Olusanya O, Andrews PD, Swedlow JR, Smythe E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11516654", "url": "https://glygen.org/publication/PubMed/11516654" } ] }, { "title": "HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Metzler M, Legendre-Guillemin V, Gan L, Chopra V, Kwok A, McPherson PS, Hayden MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11517213", "url": "https://glygen.org/publication/PubMed/11517213" } ] }, { "title": "The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis.", "journal": "Human molecular genetics", "date": "2001", "authors": "Waelter S, Scherzinger E, Hasenbank R, Nordhoff E, Lurz R, Goehler H, Gauss C, Sathasivam K, Bates GP, Lehrach H, Wanker EE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": "PubMed", "id": "11532990", "url": "https://glygen.org/publication/PubMed/11532990" } ] }, { "title": "Clathrin- and AP-2-binding sites in HIP1 uncover a general assembly role for endocytic accessory proteins.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Mishra SK, Agostinelli NR, Brett TJ, Mizukami I, Ross TS, Traub LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8856828", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8856828" } ], "reference": [ { "type": 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