{ "uniprot_canonical_ac": "O75340-1", "uniprot_ac": "O75340", "uniprot_id": "PDCD6_HUMAN", "mass": { "chemical_mass": 21868.0, "monoisotopic_mass": 21868.0 }, "refseq": { "ac": "NP_001254485", "name": "programmed cell death protein 6 isoform 2", "summary": "This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485" }, "gene_names": [ { "name": "PDCD6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75340", "id": "O75340" }, { "name": "ALG-2; ALG2; PEF1B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485", "id": "NP_001254485" }, { "name": "ALG2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75340", "id": "O75340" }, { "name": "PDCD6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485", "id": "NP_001254485" }, { "name": "hCG_1985580", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75340", "id": "O75340" } ], "protein_names": [ { "name": "Programmed cell death protein 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75340" }, { "name": "ALG-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75340" }, { "name": "Apoptosis-linked gene 2 protein homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75340" }, { "name": "programmed cell death protein 6 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485", "id": "NP_001254485" }, { "name": "programmed cell death protein 6; probable calcium-binding protein ALG-2; apoptosis-linked gene 2 protein homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485", "id": "NP_001254485" } ], "function": [ { "annotation": "ALG2 regulates type I interferon responses by inhibiting STING trafficking.", "evidence": [ { "database": "RefSeq", "id": "NP_001254485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485" }, { "database": "PubMed", "id": "34787301", "url": "https://glygen.org/publication/PubMed/34787301" } ] }, { "annotation": "Calcium sensor that plays a key role in processes such as endoplasmic reticulum (ER)-Golgi vesicular transport, endosomal biogenesis or membrane repair. Acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes (PubMed:20691033, PubMed:25667979). Involved in ER-Golgi transport by promoting the association between PDCD6IP and TSG101, thereby bridging together the ESCRT-III and ESCRT-I complexes (PubMed:19520058). Together with PEF1, acts as a calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in ER-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PEF1 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Involved in the regulation of the distribution and function of MCOLN1 in the endosomal pathway (PubMed:19864416). Promotes localization and polymerization of TFG at endoplasmic reticulum exit site (PubMed:27813252). Required for T-cell receptor-, Fas-, and glucocorticoid-induced apoptosis (By similarity). May mediate Ca(2+)-regulated signals along the death pathway: interaction with DAPK1 can accelerate apoptotic cell death by increasing caspase-3 activity (PubMed:16132846). Its role in apoptosis may however be indirect, as suggested by knockout experiments (By similarity). May inhibit KDR/VEGFR2-dependent angiogenesis; the function involves inhibition of VEGF-induced phosphorylation of the Akt signaling pathway (PubMed:21893193). In case of infection by HIV-1 virus, indirectly inhibits HIV-1 production by affecting viral Gag expression and distribution (PubMed:27784779).", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340#function" }, { "database": "PubMed", "id": "25667979", "url": "https://glygen.org/publication/PubMed/25667979" }, { "database": "PubMed", "id": "21893193", "url": "https://glygen.org/publication/PubMed/21893193" }, { "database": "PubMed", "id": "16132846", "url": "https://glygen.org/publication/PubMed/16132846" }, { "database": "PubMed", "id": "19520058", "url": "https://glygen.org/publication/PubMed/19520058" }, { "database": "UniProtKB", "id": "P12815", "url": "https://www.uniprot.org/uniprot/P12815#function" }, { "database": "PubMed", "id": "27813252", "url": "https://glygen.org/publication/PubMed/27813252" }, { "database": "PubMed", "id": "27716508", "url": "https://glygen.org/publication/PubMed/27716508" }, { "database": "PubMed", "id": "20691033", "url": "https://glygen.org/publication/PubMed/20691033" }, { "database": "PubMed", "id": "27784779", "url": "https://glygen.org/publication/PubMed/27784779" }, { "database": "PubMed", "id": "19864416", "url": "https://glygen.org/publication/PubMed/19864416" } ] }, { "annotation": "Expression level of NEAT1 differentiates benign and malignant thyroid nodules by regulating NEAT1/miR9/PTEN and NEAT1/miR124/PDCD6 signalling.", "evidence": [ { "database": "RefSeq", "id": "NP_001254485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485" }, { "database": "PubMed", "id": "32901835", "url": "https://glygen.org/publication/PubMed/32901835" } ] }, { "annotation": "Has a lower Ca(2+) affinity than isoform 1 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340#function" }, { "database": "UniProtKB", "id": "P12815", "url": "https://www.uniprot.org/uniprot/P12815#function" } ] }, { "annotation": "PDCD6 cooperates with C-Raf to facilitate colorectal cancer progression via Raf/MEK/ERK activation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001254485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485" }, { "database": "PubMed", "id": "32746883", "url": "https://glygen.org/publication/PubMed/32746883" } ] }, { "annotation": "The Contribution of PDCD6 Polymorphisms to Oral Cancer Risk.", "evidence": [ { "database": "RefSeq", "id": "NP_001254485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485" }, { "database": "PubMed", "id": "35732318", "url": "https://glygen.org/publication/PubMed/35732318" } ] }, { "annotation": "This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_001254485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O75340", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75340" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 64, "end_pos": 64, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "304204", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T64", "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": 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"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": 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"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": 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", 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"database": "BioXpress", "id": "O75340", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75340" } ], "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", 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75340", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75340" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75340" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75340", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75340" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"tr|H0Y9X3-1|H0Y9X3_HUMAN Computationally mapped isoform of Programmed cell death 6 OS=Homo sapiens OX=9606 GN=PDCD6 PE=1 SV=1 CANONICAL=O75340-1" }, "locus": { "chromosome": "5", "start_pos": 314512, "end_pos": 272712, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507473.1", "url": "https://www.ensembl.org/id/ENST00000507473.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000425370.1", "url": "https://www.ensembl.org/id/ENSP00000425370.1" } ] } }, { "isoform_ac": "O75340-1", "url": "", "sequence": { "sequence": "MAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGTWTPFNPVTVRSIISMFDRENKAGVNFSEFTGVWKYITDWQNVFRTYDRDNSGMIDKNELKQALSGFGYRLSDQFHDILIRKFDRQGRGQIAFDDFIQGCIVLQRLTDIFRRYDTDQDGWIQVSYEQYLSMVFSIV", "length": 191, "header": "sp|O75340-1|PDCD6_HUMAN Isoform 1 of Programmed cell death protein 6 OS=Homo sapiens OX=9606 GN=PDCD6 PE=1 SV=1 CANONICAL=O75340-1" }, "locus": { "chromosome": "5", "start_pos": 314512, "end_pos": 271721, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000264933.9", "url": "https://www.ensembl.org/id/ENST00000264933.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000264933.4", "url": "https://www.ensembl.org/id/ENSP00000264933.4" } ] } }, { "isoform_ac": "O75340-2", "url": "", "sequence": { "sequence": "MAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGTWTPFNPVTVRSIISMFDRENKAGVNFSEFTGVWKYITDWQNVFRTYDRDNSGMIDKNELKQALSGYRLSDQFHDILIRKFDRQGRGQIAFDDFIQGCIVLQRLTDIFRRYDTDQDGWIQVSYEQYLSMVFSIV", "length": 189, "header": "sp|O75340-2|PDCD6_HUMAN Isoform 2 of Programmed cell death protein 6 OS=Homo sapiens OX=9606 GN=PDCD6 PE=1 SV=1 CANONICAL=O75340-1" }, "locus": { "chromosome": "5", "start_pos": 314512, "end_pos": 271721, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507528.5", "url": "https://www.ensembl.org/id/ENST00000507528.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000423815.1", "url": "https://www.ensembl.org/id/ENSP00000423815.1" } ] } }, { "isoform_ac": "O75340-3", "url": "", "sequence": { "sequence": "MAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNGTWTPFNPVTVRSII", "length": 69, "header": "sp|O75340-3|PDCD6_HUMAN Isoform 3 of Programmed cell death protein 6 OS=Homo sapiens OX=9606 GN=PDCD6 PE=1 SV=1 CANONICAL=O75340-1" }, "locus": { "chromosome": "5", "start_pos": 304221, "end_pos": 271721, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505221.5", "url": "https://www.ensembl.org/id/ENST00000505221.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422085.1", "url": "https://www.ensembl.org/id/ENSP00000422085.1" } ] } }, { "isoform_ac": "Q86W51-1", "url": "", "sequence": { "sequence": "MAAYSYRPGPGAGPGPAAGAALPDQSFLWNVFQRVDKDRSGVISDTELQQALSNG", "length": 55, "header": "tr|Q86W51-1|PDCD6_HUMAN Computationally mapped isoform of Programmed cell death protein 6 OS=Homo sapiens OX=9606 GN=PDCD6 PE=1 SV=1 CANONICAL=O75340-1" }, "locus": { "chromosome": "5", "start_pos": 276013, "end_pos": 271721, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509581.5", "url": "https://www.ensembl.org/id/ENST00000509581.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422691.1", "url": "https://www.ensembl.org/id/ENSP00000422691.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75340", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75340" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" } ] } ], "phosphorylation": [ { "start_pos": 124, "end_pos": 124, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75340", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75340" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr124" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Peflin and ALG-2, members of the penta-EF-hand protein family, form a heterodimer that dissociates in a Ca2+-dependent manner.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Kitaura Y, Matsumoto S, Satoh H, Hitomi K, Maki M", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "11278427", "url": "https://glygen.org/publication/PubMed/11278427" } ] }, { "title": "Both ALG-2 and peflin, penta-EF-hand (PEF) proteins, are stabilized by dimerization through their fifth EF-hand regions.", "journal": "Arch. Biochem. Biophys.", "date": "2002", "authors": "Kitaura Y, Satoh H, Takahashi H, Shibata H, Maki M", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "11883899", "url": "https://glygen.org/publication/PubMed/11883899" } ] }, { "title": "ALG-2 interacts with the amino-terminal domain of annexin XI in a Ca(2+)-dependent manner.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2002", "authors": "Satoh H, Shibata H, Nakano Y, Kitaura Y, Maki M", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "11883939", "url": "https://glygen.org/publication/PubMed/11883939" } ] }, { "title": "Programmed cell death 6 (PDCD6) protein interacts with death-associated protein kinase 1 (DAPk1): additive effect on apoptosis via caspase-3 dependent pathway.", "journal": "Biotechnology letters", "date": "2005", "authors": "Lee JH, Rho SB, Chun T", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "16132846", "url": "https://glygen.org/publication/PubMed/16132846" } ] }, { "title": "The Ca2+-binding protein ALG-2 is recruited to endoplasmic reticulum exit sites by Sec31A and stabilizes the localization of Sec31A.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Yamasaki A, Tani K, Yamamoto A, Kitamura N, Komada M", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "16957052", "url": "https://glygen.org/publication/PubMed/16957052" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Nuclear translocation of the calcium-binding protein ALG-2 induced by the RNA-binding protein RBM22.", "journal": "Biochim. Biophys. Acta", "date": "2006", "authors": "Montaville P, Dai Y, Cheung CY, Giller K, Becker S, Michalak M, Webb SE, Miller AL, Krebs J", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "17045351", "url": "https://glygen.org/publication/PubMed/17045351" } ] }, { "title": "The calcium binding protein ALG-2 binds and stabilizes Scotin, a p53-inducible gene product localized at the endoplasmic reticulum membrane.", "journal": "Arch. Biochem. Biophys.", "date": "2007", "authors": "Draeby I, Woods YL, la Cour JM, Mollerup J, Bourdon JC, Berchtold MW", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "17889823", "url": "https://glygen.org/publication/PubMed/17889823" } ] }, { "title": "Identification of Alix-type and Non-Alix-type ALG-2-binding sites in human phospholipid scramblase 3: differential binding to an alternatively spliced isoform and amino acid-substituted mutants.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Shibata H, Suzuki H, Kakiuchi T, Inuzuka T, Yoshida H, Mizuno T, Maki M", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "18256029", "url": "https://glygen.org/publication/PubMed/18256029" } ] }, { "title": "Structural basis for Ca2+ -dependent formation of ALG-2/Alix peptide complex: Ca2+/EF3-driven arginine switch mechanism.", "journal": "Structure", "date": "2008", "authors": "Suzuki H, Kawasaki M, Inuzuka T, Okumura M, Kakiuchi T, Shibata H, Wakatsuki S, Maki M", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "18940611", "url": "https://glygen.org/publication/PubMed/18940611" } ] }, { "title": "Crystallization and X-ray diffraction analysis of N-terminally truncated human ALG-2.", "journal": "Acta Crystallogr. F", "date": "2008", "authors": "Suzuki H, Kawasaki M, Kakiuchi T, Shibata H, Wakatsuki S, Maki M", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "18997320", "url": "https://glygen.org/publication/PubMed/18997320" } ] }, { "title": "Penta-EF-hand protein ALG-2 functions as a Ca2+-dependent adaptor that bridges Alix and TSG101.", "journal": "Biochemical and biophysical research communications", "date": "2009-08-14", "authors": "Okumura Mayumi, Ichioka Fumitaka, Kobayashi Ryota, Suzuki Hironori, Yoshida Haruna, Shibata Hideki, Maki Masatoshi", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "19520058", "url": "https://glygen.org/publication/PubMed/19520058" } ] }, { "title": "Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Vergarajauregui S, Martina JA, Puertollano R", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "19864416", "url": "https://glygen.org/publication/PubMed/19864416" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75340-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75340-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Molecular basis for defect in Alix-binding by alternatively spliced isoform of ALG-2 (ALG-2DeltaGF122) and structural roles of F122 in target recognition.", "journal": "BMC structural biology", "date": "2010", "authors": "Inuzuka T, Suzuki H, Kawasaki M, Shibata H, Wakatsuki S, Maki M", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "20691033", "url": "https://glygen.org/publication/PubMed/20691033" } ] }, { "title": "Stress induced subcellular distribution of ALG-2, RBM22 and hSlu7.", "journal": "Biochim. Biophys. Acta", "date": "2011", "authors": "Janowicz Aleksandra, Michalak Marek, Krebs Joachim", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "21122810", "url": "https://glygen.org/publication/PubMed/21122810" } ] }, { "title": "Programmed cell death 6 (PDCD6) inhibits angiogenesis through PI3K/mTOR/p70S6K pathway by interacting of VEGFR-2.", "journal": "Cellular signalling", "date": "2012-01", "authors": "Rho Seung Bae, Song Yong Jung, Lim Myong Cheol, Lee Seung-Hoon, Kim Boh-Ram, Park Sang-Yoon", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "21893193", "url": "https://glygen.org/publication/PubMed/21893193" } ] }, { "title": "Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-alpha-acetylation features.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "22223895", "url": "https://glygen.org/publication/PubMed/22223895" } ] }, { "title": "Structural analysis of the complex between penta-EF-hand ALG-2 protein and Sec31A peptide reveals a novel target recognition mechanism of ALG-2.", "journal": "International journal of molecular sciences", "date": "2015", "authors": "Takahashi T, Kojima K, Zhang W, Sasaki K, Ito M, Suzuki H, Kawasaki M, Wakatsuki S, Takahara T, Shibata H, Maki M", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "25667979", "url": "https://glygen.org/publication/PubMed/25667979" } ] }, { "title": "Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent Co-adaptor.", "journal": "Cell", "date": "2016", "authors": "McGourty CA, Akopian D, Walsh C, Gorur A, Werner A, Schekman R, Bautista D, Rape M", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "27716508", "url": "https://glygen.org/publication/PubMed/27716508" } ] }, { "title": "Structural and Functional Study of Apoptosis-linked Gene-2.Heme-binding Protein 2 Interactions in HIV-1 Production.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Ma J, Zhang X, Feng Y, Zhang H, Wang X, Zheng Y, Qiao W, Liu X", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "27784779", "url": "https://glygen.org/publication/PubMed/27784779" } ] }, { "title": "The calcium-binding protein ALG-2 promotes endoplasmic reticulum exit site localization and polymerization of Trk-fused gene (TFG) protein.", "journal": "The FEBS journal", "date": "2017", "authors": "Kanadome T, Shibata H, Kuwata K, Takahara T, Maki M", "evidence": [ { "database": "UniProtKB", "id": "O75340", "url": "https://www.uniprot.org/uniprot/O75340" } ], "reference": [ { "type": "PubMed", "id": "27813252", "url": "https://glygen.org/publication/PubMed/27813252" } ] }, { "title": "PDCD6 cooperates with C-Raf to facilitate colorectal cancer progression via Raf/MEK/ERK activation.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2020", "authors": "Wang X, Wu F, Wang H, Duan X, Huang R, Tuersuntuoheti A, Su L, Yan S, Zhao Y, Lu Y, Li K, Yao J, Luo Z, Guo L, Liu J, Chen X, Lu Y, Hu H, Li X, Bao M, Bi X, Du B, Miao S, Cai J, Wang L, Zhou H, Ying J, Song W, Zhao H", "evidence": [ { "database": "RefSeq", "id": "NP_001254485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485" } ], "reference": [ { "type": "PubMed", "id": "32746883", "url": "https://glygen.org/publication/PubMed/32746883" } ] }, { "title": "Expression level of NEAT1 differentiates benign and malignant thyroid nodules by regulating NEAT1/miR9/PTEN and NEAT1/miR124/PDCD6 signalling.", "journal": "International journal of molecular medicine", "date": "2020", "authors": "Zhao L, Zhou N, Zhao P", "evidence": [ { "database": "RefSeq", "id": "NP_001254485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485" } ], "reference": [ { "type": "PubMed", "id": "32901835", "url": "https://glygen.org/publication/PubMed/32901835" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75340", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75340" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75340", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75340" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "ALG2 regulates type I interferon responses by inhibiting STING trafficking.", "journal": "Journal of cell science", "date": "2021", "authors": "Ji W, Zhang L, Xu X, Liu X", "evidence": [ { "database": "RefSeq", "id": "NP_001254485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485" } ], "reference": [ { "type": "PubMed", "id": "34787301", "url": "https://glygen.org/publication/PubMed/34787301" } ] }, { "title": "The Contribution of PDCD6 Polymorphisms to Oral Cancer Risk.", "journal": "Cancer genomics & proteomics", "date": "2022", "authors": "Shih LC, He JL, Chang WS, Hsu CL, Hsia TC, Wang YC, Yang JS, Mong MC, Tsai CW, Bau DT", "evidence": [ { "database": "RefSeq", "id": "NP_001254485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254485" } ], "reference": [ { "type": "PubMed", "id": "35732318", "url": "https://glygen.org/publication/PubMed/35732318" } ] } ], "pathway": [ { "id": "hsa:10016", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10016", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A8Y589-1", "protein_name": "Apoptosis-linked gene-2", "gene_name": "Alg-2", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MAYNHDGMPDQQFLWDVFQRVDKDRSGHISADELQVALSNGTWSAFNPETIRLMIGMFDRENKGTVSFKDFGALWKYVTDWQNCFRSFDRDNSGNIDKTELKTALTSFGYRLSDHLIDVLLRKFDRFGRGTILFDDFIQCCIVLYTLTTAFRQHDTDLDGIITIHYEQFLSMVFSLKI", "length": 178 }, "evidence": [ { "id": "O75340", "url": "https://omabrowser.org/oma/group/O75340/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": 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