{ "uniprot_canonical_ac": "Q9NRG9-1", "uniprot_ac": "Q9NRG9", "uniprot_id": "AAAS_HUMAN", "mass": { "chemical_mass": 59574.0, "monoisotopic_mass": 59574.0 }, "refseq": { "ac": "NP_001166937", "name": "aladin isoform 2", "summary": "The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166937" }, "gene_names": [ { "name": "AAAS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9NRG9", "id": "Q9NRG9" }, { "name": "AAA; AAASb; ADRACALA; ADRACALIN; ALADIN; GL003", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166937", "id": "NP_001166937" }, { "name": "AAAS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166937", "id": "NP_001166937" }, { "name": "ADRACALA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NRG9", "id": "Q9NRG9" }, { "name": "GL003", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NRG9", "id": "Q9NRG9" } ], "protein_names": [ { "name": "Aladin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9NRG9" }, { "name": "Adracalin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NRG9" }, { "name": "Allgrove, triple-A; achalasia, adrenocortical insufficiency, alacrimia", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166937", "id": "NP_001166937" }, { "name": "aladin isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166937", "id": "NP_001166937" } ], "function": [ { "annotation": "A homozygous deletion of the entire AAAS gene was identified in a patient with triple A syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001166937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166937" }, { "database": "PubMed", "id": "31071487", "url": "https://glygen.org/publication/PubMed/31071487" } ] }, { "annotation": "AAAS mutations were identified in two families with hereditary spastic paraplegia.", "evidence": [ { "database": "RefSeq", "id": "NP_001166937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166937" }, { "database": "PubMed", "id": "30381913", "url": "https://glygen.org/publication/PubMed/30381913" } ] }, { "annotation": "Clinical and genetic characteristics of six patients with triple A syndrome and AAAS mutations are described.", "evidence": [ { "database": "RefSeq", "id": "NP_001166937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166937" }, { "database": "PubMed", "id": "29255950", "url": "https://glygen.org/publication/PubMed/29255950" } ] }, { "annotation": "Mutation in AAAS gene is associated with triple A syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001166937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166937" }, { "database": "PubMed", "id": "29874194", "url": "https://glygen.org/publication/PubMed/29874194" } ] }, { "annotation": "Plays a role in the normal development of the peripheral and central nervous system (PubMed:11062474, PubMed:11159947, PubMed:16022285). Required for the correct localization of aurora kinase AURKA and the microtubule minus end-binding protein NUMA1 as well as a subset of AURKA targets which ensures proper spindle formation and timely chromosome alignment (PubMed:26246606).", "evidence": [ { "database": "UniProtKB", "id": "Q9NRG9", "url": "https://www.uniprot.org/uniprot/Q9NRG9#function" }, { "database": "PubMed", "id": "11159947", "url": "https://glygen.org/publication/PubMed/11159947" }, { "database": "PubMed", "id": "16022285", "url": "https://glygen.org/publication/PubMed/16022285" }, { "database": "PubMed", "id": "26246606", "url": "https://glygen.org/publication/PubMed/26246606" }, { "database": "PubMed", "id": "11062474", "url": "https://glygen.org/publication/PubMed/11062474" } ] }, { "annotation": "The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001166937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166937" } ] }, { "annotation": "Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001166937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166937" }, { "database": "PubMed", "id": "32700293", "url": "https://glygen.org/publication/PubMed/32700293" } ] } ], "disease": [ { "disease_id": "DOID:0050602", "recommended_name": { "id": "DOID:0050602", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050602", "name": "triple-A syndrome", "description": "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system." }, "synonyms": [ { "id": "DOID:0050602", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050602", "name": "AAAS", "description": "" }, { "id": "DOID:0050602", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050602", "name": "Achalasia-Addisonianism-Alacrimia syndrome", "description": "" }, { "id": "DOID:0050602", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050602", "name": "Allgrove Syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "triple-A syndrome", "description": "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "2A syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "3A syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "4A syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "AAA syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "Allgrove syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "Double A syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "achalasia-addisonianism-alacrima syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "achalasia-addisonianism-alacrimia syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "adrenal insufficiency-achalasia-alacrima syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "quaternary A syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "triple-a syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "AAA", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "AAAS", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "ACTH-resistant adrenal insufficiency, achalasia and alacrima", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "Addisonian achalasia syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "Addisonian-achalasia syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "achalasia addisonianism alacrimia syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "achalasia alacrima syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "achalasia-alacrima syndrome", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "alacrima-achalasia-addisonianism", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "alacrima-achalasia-adrenal insufficiency neurologic disorder", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "glucocorticoid deficiency and achalasia", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "hypoadrenalism with achalasia", "description": "" }, { "id": "MONDO:0009279", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009279", "name": "triple A syndrome", "description": "" }, { "id": "MIM:231550", "resource": "MIM", "url": "https://www.omim.org/entry/231550", "name": "Achalasia-addisonianism-alacrima syndrome", "description": "Achalasia-addisonianism-alacrima syndrome" } ], "evidence": [ { "id": "231550", "database": "MIM", "url": "https://www.omim.org/entry/231550" } ] } ], "snv": [ { "evidence": [ { "id": "rs746462406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746462406" }, { "id": "rs746462406", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746462406" }, { "id": "rs746462406", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746462406" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 131, "end_pos": 131, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HLS->NLS).", "chr_id": "12", "chr_pos": "53315343", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1260692259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260692259" }, { "id": "rs1260692259", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260692259" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 181, "end_pos": 181, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SST->NST).", "chr_id": "12", "chr_pos": "53308790", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NRG9", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9NRG9" }, { "id": "rs772310506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772310506" }, { "id": "rs772310506", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772310506" }, { "id": "rs772310506", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772310506" }, { "id": "rs772310506", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772310506" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 205, "end_pos": 205, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "12", "chr_pos": "53314373", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S205", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1176117428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1176117428" }, { "id": "rs1176117428", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1176117428#frequency_tab" }, { "id": "rs1176117428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1176117428" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 298, "end_pos": 298, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "12", "chr_pos": "53309200", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D298", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372218457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372218457" }, { "id": "rs372218457", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372218457" }, { "id": "rs372218457", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372218457#frequency_tab" }, { "id": "rs372218457", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372218457" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 437, "end_pos": 437, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "12", "chr_pos": "53308074", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P437", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768875274", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768875274" }, { "id": "rs768875274", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768875274" }, { "id": "rs768875274", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768875274" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 475, "end_pos": 475, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "12", "chr_pos": "53307707", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S475", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "73.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "71.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "74.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "70.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000094914", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000094914" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9NRG9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NRG9" } ], "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", 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"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": 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"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", 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"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": 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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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9NRG9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NRG9" } ], "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/Q9NRG9" } ], "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": "Q9NRG9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NRG9" } ], "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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"description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": 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"MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "Q9NRG9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NRG9" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWINLPVLQLTKDPLKTPGRLDHGTRTAFIHHREQVWKRCINIWRDVGLFGVLNEIANSEEEVFEWVKTASGWALALCRWASSLHGSLFPHLSLRSEDLIAEFAQVTNWSSCCLRVFAWHPHTNKFAVALLDDSVRVYNASSTIVPSLKHRLQRNVASLAWKPLSASVLAVACQSCILIWTLDPTSLSTRPSSGCAQVLSHPGHTPVTSLAWAPSGGRLLSASPVDAAIRVWDVSTETCVPLPWFRGGGVTNLLWSPDGSKILATTPSAVFRVWEAQMWTCERWPTLSGRCQTGCWSPDGSRLLFTVLGEPLIYSLSFPERCGEGKGCVGGAKSATIVADLSETTIQTPDGEERLGGEAHSMVWDPSGERLAVLMKGKPRVQDGKPVILLFRTRNSPVFELLPCGIIQGEPGAQPQLITFHPSFNKGALLSVGWSTGRIAHIPLYFVNAQFPRFSPVLGRAQEPPAGGGGSIHDLPLFTETSPTSAPWDPLPGPPPVLPHSPHSHL", "length": 546, "header": "sp|Q9NRG9-1|AAAS_HUMAN Isoform 1 of Aladin OS=Homo sapiens OX=9606 GN=AAAS PE=1 SV=1 CANONICAL=Q9NRG9-1" }, "locus": { "chromosome": "12", "start_pos": 53321465, "end_pos": 53307492, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000209873.9", "url": "https://www.ensembl.org/id/ENST00000209873.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000209873.4", "url": "https://www.ensembl.org/id/ENSP00000209873.4" } ] } }, { "isoform_ac": "Q9NRG9-2", "url": "", "sequence": { "sequence": "MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWINLPVLQLTKDPLKTPGRLDHGTRTAFIHHREQVWKRCINIWRDVGLFGVLNEIANSEEEVFEWVKTASGWALALCRWASSLHGSLFPHLSLRSEDLIAEFAQVTNCTIVPSLKHRLQRNVASLAWKPLSASVLAVACQSCILIWTLDPTSLSTRPSSGCAQVLSHPGHTPVTSLAWAPSGGRLLSASPVDAAIRVWDVSTETCVPLPWFRGGGVTNLLWSPDGSKILATTPSAVFRVWEAQMWTCERWPTLSGRCQTGCWSPDGSRLLFTVLGEPLIYSLSFPERCGEGKGCVGGAKSATIVADLSETTIQTPDGEERLGGEAHSMVWDPSGERLAVLMKGKPRVQDGKPVILLFRTRNSPVFELLPCGIIQGEPGAQPQLITFHPSFNKGALLSVGWSTGRIAHIPLYFVNAQFPRFSPVLGRAQEPPAGGGGSIHDLPLFTETSPTSAPWDPLPGPPPVLPHSPHSHL", "length": 513, "header": "sp|Q9NRG9-2|AAAS_HUMAN Isoform 2 of Aladin OS=Homo sapiens OX=9606 GN=AAAS PE=1 SV=1 CANONICAL=Q9NRG9-1" }, "locus": { "chromosome": "12", "start_pos": 53321465, "end_pos": 53307492, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394384.7", "url": "https://www.ensembl.org/id/ENST00000394384.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000377908.3", "url": "https://www.ensembl.org/id/ENSP00000377908.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 475, "start_aa": "Ser", "end_pos": 475, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser475", "evidence": [ { "id": "Q9NRG9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NRG9" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "Q9NRG9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NRG9" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 476, "start_aa": "Thr", "end_pos": 476, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr476", "evidence": [ { "id": "Q9NRG9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NRG9" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] } ], "phosphorylation": [ { "start_pos": 181, "end_pos": 181, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NRG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRG9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser181" }, { "start_pos": 33, "end_pos": 33, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NRG9", "url": "https://www.uniprot.org/uniprot/Q9NRG9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q9NRG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRG9" }, { "database": "phospho.ELM", "id": "Q9NRG9", "url": "http://phospho.elm.eu.org/byAccession/Q9NRG9.html" } ], "site_lbl": "Ser33" }, { "start_pos": 495, "end_pos": 495, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NRG9", "url": "https://www.uniprot.org/uniprot/Q9NRG9" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9NRG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRG9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "phospho.ELM", "id": "Q9NRG9", "url": "http://phospho.elm.eu.org/byAccession/Q9NRG9.html" } ], "site_lbl": "Ser495" }, { "start_pos": 511, "end_pos": 511, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NRG9", "url": "https://www.uniprot.org/uniprot/Q9NRG9" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9NRG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRG9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q9NRG9", "url": "http://phospho.elm.eu.org/byAccession/Q9NRG9.html" } ], "site_lbl": "Ser511" }, { "start_pos": 522, "end_pos": 522, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NRG9", "url": "https://www.uniprot.org/uniprot/Q9NRG9" }, { "database": "iPTMnet", "id": "Q9NRG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRG9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q9NRG9", "url": "http://phospho.elm.eu.org/byAccession/Q9NRG9.html" } ], "site_lbl": "Ser522" }, { "start_pos": 524, "end_pos": 524, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NRG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRG9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q9NRG9", "url": "http://phospho.elm.eu.org/byAccession/Q9NRG9.html" } ], "site_lbl": "Thr524" }, { "start_pos": 525, "end_pos": 525, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NRG9", "url": "https://www.uniprot.org/uniprot/Q9NRG9" }, { "database": "iPTMnet", "id": "Q9NRG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRG9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q9NRG9", "url": "http://phospho.elm.eu.org/byAccession/Q9NRG9.html" } ], "site_lbl": "Ser525" }, { "start_pos": 541, "end_pos": 541, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NRG9", "url": "https://www.uniprot.org/uniprot/Q9NRG9" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q9NRG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRG9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q9NRG9", "url": "http://phospho.elm.eu.org/byAccession/Q9NRG9.html" } ], "site_lbl": "Ser541" }, { "start_pos": 544, "end_pos": 544, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NRG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRG9" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser544" }, { "start_pos": 57, "end_pos": 57, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NRG9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRG9" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Thr57" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Interaction of the small G protein RhoA with the C terminus of human phospholipase D1.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yamazaki M, Zhang Y, Watanabe H, Yokozeki T, Ohno S, Kaibuchi K, Shibata H, Mukai H, Ono Y, Frohman MA, Kanaho Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10037681", "url": "https://glygen.org/publication/PubMed/10037681" } ] }, { "title": "Influenza A virus NS1 protein targets poly(A)-binding protein II of the cellular 3'-end processing machinery.", "journal": "The EMBO journal", "date": "1999", "authors": "Chen Z, Li Y, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-168276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168276" } ], "reference": [ { "type": "PubMed", "id": "10205180", "url": "https://glygen.org/publication/PubMed/10205180" } ] }, { "title": "The Mex67p-mediated nuclear mRNA export pathway is conserved from yeast to human.", "journal": "The EMBO journal", "date": "1999", "authors": "Katahira J, Strasser K, Podtelejnikov A, Mann M, Jung JU, Hurt E", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "10228171", "url": "https://glygen.org/publication/PubMed/10228171" } ] }, { "title": "Expression, purification and crystallization of a BH domain from the GTPase regulatory protein associated with focal adhesion kinase.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "1999", "authors": "Sheffield PJ, Derewenda U, Taylor J, Parsons TJ, Derewenda ZS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10232922", "url": "https://glygen.org/publication/PubMed/10232922" } ] }, { "title": "The human Tap protein is a nuclear mRNA export factor that contains novel RNA-binding and nucleocytoplasmic transport sequences.", "journal": "Genes & development", "date": "1999", "authors": "Kang Y, Cullen BR", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "10323864", "url": "https://glygen.org/publication/PubMed/10323864" } ] }, { "title": "Localization in the nucleolus and coiled bodies of protein subunits of the ribonucleoprotein ribonuclease P.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Jarrous N, Wolenski JS, Wesolowski D, Lee C, Altman S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6784531", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6784531" } ], "reference": [ { "type": "PubMed", "id": "10444065", "url": "https://glygen.org/publication/PubMed/10444065" } ] }, { "title": "Analysis of the RNA binding specificity of the human tap protein, a constitutive transport element-specific nuclear RNA export factor.", "journal": "Virology", "date": "1999", "authors": "Kang Y, Bogerd HP, Yang J, Cullen BR", "evidence": [ { "database": "Reactome", "id": "R-HSA-159236", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-159236" } ], "reference": [ { "type": "PubMed", "id": "10489353", "url": "https://glygen.org/publication/PubMed/10489353" } ] }, { "title": "The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Joberty G, Perlungher RR, Macara IG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10490598", "url": "https://glygen.org/publication/PubMed/10490598" } ] }, { "title": "Dependence of Dbl and Dbs transformation on MEK and NF-kappaB activation.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Whitehead IP, Lambert QT, Glaven JA, Abe K, Rossman KL, Mahon GM, Trzaskos JM, Kay R, Campbell SL, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10523665", "url": "https://glygen.org/publication/PubMed/10523665" } ] }, { "title": "Biological and regulatory properties of Vav-3, a new member of the Vav family of oncoproteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Movilla N, Bustelo XR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10523675", "url": "https://glygen.org/publication/PubMed/10523675" } ] }, { "title": "Rho-specific binding and guanine nucleotide exchange catalysis by KIAA0380, a dbl family member.", "journal": "FEBS letters", "date": "1999", "authors": "Rumenapp U, Blomquist A, Schworer G, Schablowski H, Psoma A, Jakobs KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "10526156", "url": "https://glygen.org/publication/PubMed/10526156" } ] }, { "title": "Two separate sequences of PB2 subunit constitute the RNA cap-binding site of influenza virus RNA polymerase.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "1999", "authors": "Honda A, Mizumoto K, Ishihama A", "evidence": [ { "database": "Reactome", "id": "R-HSA-168325", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168325" } ], "reference": [ { "type": "PubMed", "id": "10526235", "url": "https://glygen.org/publication/PubMed/10526235" } ] }, { "title": "Newly assembled snRNPs associate with coiled bodies before speckles, suggesting a nuclear snRNP maturation pathway.", "journal": "Current biology : CB", "date": "1999", "authors": "Sleeman JE, Lamond AI", "evidence": [ { "database": "Reactome", "id": "R-HSA-191859", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-191859" } ], "reference": [ { "type": "PubMed", "id": "10531003", "url": "https://glygen.org/publication/PubMed/10531003" } ] }, { "title": "Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy.", "journal": "Human molecular genetics", "date": "1999", "authors": "Buhler D, Raker V, Luhrmann R, Fischer U", "evidence": [ { "database": "Reactome", "id": 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