{ "uniprot_canonical_ac": "E9PAV3-1", "uniprot_ac": "E9PAV3", "uniprot_id": "NACAM_HUMAN", "mass": { "chemical_mass": 205422.0, "monoisotopic_mass": 205422.0 }, "refseq": {}, "gene_names": [ { "name": "NACA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/E9PAV3", "id": "E9PAV3" }, { "name": "HSD48", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/E9PAV3", "id": "E9PAV3" } ], "protein_names": [ { "name": "Nascent polypeptide-associated complex subunit alpha, muscle-specific form", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "E9PAV3" }, { "name": "Alpha-NAC, muscle-specific form", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "E9PAV3" }, { "name": "skNAC", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "E9PAV3" } ], "function": [ { "annotation": "Cardiac- and muscle-specific transcription factor. May act to regulate the expression of genes involved in the development of myotubes. Plays a critical role in ventricular cardiomyocyte expansion and regulates postnatal skeletal muscle growth and regeneration. Involved in the organized assembly of thick and thin filaments of myofibril sarcomeres (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3#function" }, { "database": "UniProtKB", "id": "P70670", "url": "https://www.uniprot.org/uniprot/P70670#function" } ] }, { "annotation": "Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites). May act as a specific coactivator for JUN, binding to DNA and stabilizing the interaction of JUN homodimers with target gene promoters.", "evidence": [ { "database": "UniProtKB", "id": "Q13765", "url": "https://www.uniprot.org/uniprot/Q13765#function" }, { "database": "PubMed", "id": "15784678", "url": "https://glygen.org/publication/PubMed/15784678" }, { "database": "PubMed", "id": "9877153", "url": "https://glygen.org/publication/PubMed/9877153" }, { "database": "PubMed", "id": "10982809", "url": "https://glygen.org/publication/PubMed/10982809" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs768708488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768708488" }, { "id": "rs768708488", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768708488" }, { "id": "rs768708488", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768708488#frequency_tab" }, { "id": "rs768708488", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768708488" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1058, "end_pos": 1058, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->K).", "chr_id": "12", "chr_pos": "56718357", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1058", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1592316886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1592316886" }, { "id": "rs1592316886", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1592316886" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1058, "end_pos": 1058, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "12", "chr_pos": "56718358", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", 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"resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs770273340", "database": "dbSNP", "url": 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"end_pos": 149, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KSS->NSS).", "chr_id": "12", "chr_pos": "56721083", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K149", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": 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"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 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"DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", 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"name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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"breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "E9PAV3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/E9PAV3" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "E9PAV3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/E9PAV3" } ], "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": "E9PAV3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/E9PAV3" } ], "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", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YHX9-1", "url": "https://www.uniprot.org/uniprot/H0YHX9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q13765", "url": "https://www.uniprot.org/uniprot/Q13765", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q13765-1", "url": "https://www.uniprot.org/uniprot/Q13765-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETAVLPMSSALSVTAALGQPGPTLPPPCSPAPQQCPLSAANQASPFPSPSTIASTPLEVPFPQSSSGTALPLGTAPEAPTFLPNLIGPPISPAALALASPMIAPTLKGTPSSSAPLALVALAPHSVQKSSAFPPNLLTSPPSVAVAESGSVITLSAPIAPSEPKTNLNKVPSEVVPNPKGTPSPPCIVSTVPYHCVTPMASIQSGVASLPQTTPTTTLAIASPQVKDTTISSVLISPQNPGSLSLKGPVSPPAALSLSTQSLPVVTSSQKTAGPNTPPDFPISLGSHLAPLHQSSFGSVQLLGQTGPSALSDPTVKTISVDHSSTGASYPSQRSVIPPLPSRNEVVPATVAAFPVVAPSVDKGPSTISSITCSPSGSLNVATSFSLSPTTSLILKSSPNATYHYPLVAQMPVSSVGTTPLVVTNPCTIAAAPTTTFEVATCVSPPMSSGPISNIEPTSPAALVMAPVAPKEPSTQVATTLRIPVSPPLPDPEDLKNLPSSVLVKFPTQKDLQTVPASLEGAPFSPAQAGLTTKKDPTVLPLVQAAPKNSPSFQSTSSSPEIPLSPEATLAKKSLGEPLPIGKPASSMTSPLGVNSSASVIKTDSYAGPDSAGPLLKSSLITPTVAAFPLESADPAGVAPTTAKGTSTYTTTASPFLEGTVSLAPKNHPVKEGTLTTLPLVPTASENCPVAPSPQNTCAPLATLVLAPEIPKSVPSPSLPPAGTPPGTKKVDGISHTSALAPVASSPKECPTEDSGASATASSKGTLTYLADSPSPLGVSVSPQTKRPPTKKGSAGPDTPIGNLSSPVSPVEASFLPENSLSFQGSKDSPATTHSPTPPSPKGAPTPSAVTPLSPKGVTLPPKETPTPSVVNLPFPKEGPATPAPKQAPALSMTSSSPKKARATPAPKGIPASPSPKGAPTPPAATPPSPKGGPATPSPKWAPTPPAATPPSPKGGPATPSPKGAPTPPAATPPSPKGGPATPSPKGAPTPPAVTPPSPKGSPAATPFPKGASTPPAATPPSPKGSPAATPLPKGAPTTPAATLPSPKGGPATPSLKGAPTPPAATPPSPKGGPATPSPKGAPMPPAATPPSPKGGLATPPHKGAPTTPAATPPSPKGGLATPPPKGAPTTPAATPPSPKGGLATPPPKGAPTTPAATPPSPKGGLATPSPKGAPTTPAATPPSPKGGLATPSPKGAPTTPAATPPSPKGGLATPSPKGAPTTPAATPPSPKGGPATPPPKGAPTPPAATPPSLKGGLATPPHKGAPNPAVVTPPSPKGGPATSPPKGAPTPPAATPPSPKGSPGTPPPKGAPTPPAVTPPSPKGTPTLPATTPSSKGGPTTPSSKEGPTPPAATPSHKGGPAMTPPSPKRGPAIPSPKGDPTSPAVIPLSPKKAPATPVTREGAATPSKGDLTPPAVTPVSLKKAPATSAPKGGPATPSSKGDPTLPAVTPPSPKEPPAPKQVATSSSPKKAPATPAPMGAPTLPAVIPSSPKEVPATPSSRRDPIAPTATLLSKKTPATLAPKEALIPPAMTVPSPKKTPAIPTPKEAPATPSSKEASSPPAVTPSTYKGAPSPKELLIPPAVTSPSPKEAPTPPAVTPPSPEKGPATPAPKGTPTSPPVTPSSLKDSPTSPASVTCKMGATVPQASKGLPAKKGPTALKEVLVAPAPESTPIITAPTRKGPQTKKSSATSPPICPDPSAKNGSKGPLSTVAPAPLLPVQKDSSKTAKGKDASHSPKGPLAPPESKASTPLTAAAFEKVLPKPESASVSAAPSPPVSLPLAPSPVPTLPPKQQFLPSSPGLVLESPSKPLAPADEDELLPLIPPEPISGGVPFQSVLVNMPTPKSAGIPVPTPSAKQPVTKNNKGSGTESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAIMELTM", "length": 2078, "header": "sp|E9PAV3-1|NACAM_HUMAN Isoform 1 of Nascent polypeptide-associated complex subunit alpha, muscle-specific form OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "isoforms": [ { "isoform_ac": "A0A7I2V2K5-1", "url": "", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAIMELTM", "length": 211, "header": "tr|A0A7I2V2K5-1|A0A7I2V2K5_HUMAN Computationally mapped isoform of Nascent polypeptide associated complex subunit alpha OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56724521, "end_pos": 56712541, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679092.1", "url": "https://www.ensembl.org/id/ENST00000679092.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502951.1", "url": "https://www.ensembl.org/id/ENSP00000502951.1" } ] } }, { "isoform_ac": "A0A7I2V473-1", "url": "", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETVPTLPPKQQFLPSSPGLVLESPSKPLAPADEDELLPLIPPEPISGGVPFQSVLVNMPTPKSAGIPVPTPSAKQPVTKNNKGSGTESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAIMELTM", "length": 295, "header": "tr|A0A7I2V473-1|A0A7I2V473_HUMAN Computationally mapped isoform of Nascent polypeptide associated complex subunit alpha OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56724521, "end_pos": 56712541, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678047.1", "url": "https://www.ensembl.org/id/ENST00000678047.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503914.1", "url": "https://www.ensembl.org/id/ENSP00000503914.1" } ] } }, { "isoform_ac": "E9PAV3-1", "url": "", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETAVLPMSSALSVTAALGQPGPTLPPPCSPAPQQCPLSAANQASPFPSPSTIASTPLEVPFPQSSSGTALPLGTAPEAPTFLPNLIGPPISPAALALASPMIAPTLKGTPSSSAPLALVALAPHSVQKSSAFPPNLLTSPPSVAVAESGSVITLSAPIAPSEPKTNLNKVPSEVVPNPKGTPSPPCIVSTVPYHCVTPMASIQSGVASLPQTTPTTTLAIASPQVKDTTISSVLISPQNPGSLSLKGPVSPPAALSLSTQSLPVVTSSQKTAGPNTPPDFPISLGSHLAPLHQSSFGSVQLLGQTGPSALSDPTVKTISVDHSSTGASYPSQRSVIPPLPSRNEVVPATVAAFPVVAPSVDKGPSTISSITCSPSGSLNVATSFSLSPTTSLILKSSPNATYHYPLVAQMPVSSVGTTPLVVTNPCTIAAAPTTTFEVATCVSPPMSSGPISNIEPTSPAALVMAPVAPKEPSTQVATTLRIPVSPPLPDPEDLKNLPSSVLVKFPTQKDLQTVPASLEGAPFSPAQAGLTTKKDPTVLPLVQAAPKNSPSFQSTSSSPEIPLSPEATLAKKSLGEPLPIGKPASSMTSPLGVNSSASVIKTDSYAGPDSAGPLLKSSLITPTVAAFPLESADPAGVAPTTAKGTSTYTTTASPFLEGTVSLAPKNHPVKEGTLTTLPLVPTASENCPVAPSPQNTCAPLATLVLAPEIPKSVPSPSLPPAGTPPGTKKVDGISHTSALAPVASSPKECPTEDSGASATASSKGTLTYLADSPSPLGVSVSPQTKRPPTKKGSAGPDTPIGNLSSPVSPVEASFLPENSLSFQGSKDSPATTHSPTPPSPKGAPTPSAVTPLSPKGVTLPPKETPTPSVVNLPFPKEGPATPAPKQAPALSMTSSSPKKARATPAPKGIPASPSPKGAPTPPAATPPSPKGGPATPSPKWAPTPPAATPPSPKGGPATPSPKGAPTPPAATPPSPKGGPATPSPKGAPTPPAVTPPSPKGSPAATPFPKGASTPPAATPPSPKGSPAATPLPKGAPTTPAATLPSPKGGPATPSLKGAPTPPAATPPSPKGGPATPSPKGAPMPPAATPPSPKGGLATPPHKGAPTTPAATPPSPKGGLATPPPKGAPTTPAATPPSPKGGLATPPPKGAPTTPAATPPSPKGGLATPSPKGAPTTPAATPPSPKGGLATPSPKGAPTTPAATPPSPKGGLATPSPKGAPTTPAATPPSPKGGPATPPPKGAPTPPAATPPSLKGGLATPPHKGAPNPAVVTPPSPKGGPATSPPKGAPTPPAATPPSPKGSPGTPPPKGAPTPPAVTPPSPKGTPTLPATTPSSKGGPTTPSSKEGPTPPAATPSHKGGPAMTPPSPKRGPAIPSPKGDPTSPAVIPLSPKKAPATPVTREGAATPSKGDLTPPAVTPVSLKKAPATSAPKGGPATPSSKGDPTLPAVTPPSPKEPPAPKQVATSSSPKKAPATPAPMGAPTLPAVIPSSPKEVPATPSSRRDPIAPTATLLSKKTPATLAPKEALIPPAMTVPSPKKTPAIPTPKEAPATPSSKEASSPPAVTPSTYKGAPSPKELLIPPAVTSPSPKEAPTPPAVTPPSPEKGPATPAPKGTPTSPPVTPSSLKDSPTSPASVTCKMGATVPQASKGLPAKKGPTALKEVLVAPAPESTPIITAPTRKGPQTKKSSATSPPICPDPSAKNGSKGPLSTVAPAPLLPVQKDSSKTAKGKDASHSPKGPLAPPESKASTPLTAAAFEKVLPKPESASVSAAPSPPVSLPLAPSPVPTLPPKQQFLPSSPGLVLESPSKPLAPADEDELLPLIPPEPISGGVPFQSVLVNMPTPKSAGIPVPTPSAKQPVTKNNKGSGTESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAIMELTM", "length": 2078, "header": "sp|E9PAV3-1|NACAM_HUMAN Isoform 1 of Nascent polypeptide-associated complex subunit alpha, muscle-specific form OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56724521, "end_pos": 56712541, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454682.6", "url": "https://www.ensembl.org/id/ENST00000454682.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000403817.1", "url": "https://www.ensembl.org/id/ENSP00000403817.1" } ] } }, { "isoform_ac": "E9PAV3-2", "url": "", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETAVLPMSSALSVTAALGQPGPTLPPPCSPAPQQCPLSAANQASPFPSPSTIASTPLEVPFPQSSSGTALPLGTAPEAPTFLPNLIGPPISPAALALASPMIAPTLKGTPSSSAPLALVALAPHSVQKSSAFPPNLLTSPPSVAVAESGSVITLSAPIAPSEPKTNLNKVPSEVVPNPKGTPSPPCIVSTVPYHCVTPMASIQSGVASLPQTTPTTTLAIASPQVKDTTISSVLISPQNPGSLSLKGPVSPPAALSLSTQSLPVVTSSQKTAGPNTPPDFPISLGSHLAPLHQSSFGSVQLLGQTGPSALSDPTVKTISVDHSSTGASYPSQRSVIPPLPSRNEVVPATVAAFPVVAPSVDKGPSTISSITCSPSGSLNVATSFSLSPTTSLILKSSPNATYHYPLVAQMPVSSVGTTPLVVTNPCTIAAAPTTTFEVATCVSPPMSSGPISNIEPTSPAALVMAPVAPKEPSTQVATTLRIPVSPPLPDPEDLKNLPSSVLVKFPTQKDLQTVPASLEGAPFSPAQAGLTTKKDPTVLPLVQAAPKNSPSFQSTSSSPEIPLSPEATLAKKSLGEPLPIVAAFPLESADPAGVAPTTAKAAAFEKVLPKPESASVSAAPSPPVSLPLAPSPVPTLPPKQQFLPSSPGLVLESPSKPLAPADEDELLPLIPPEPISGGVPFQSVLVNMPTPKSAGIPVPTPSAKQPVTKNNKGSGTESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAIMELTM", "length": 925, "header": "sp|E9PAV3-2|NACAM_HUMAN Isoform 2 of Nascent polypeptide-associated complex subunit alpha, muscle-specific form OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56724521, "end_pos": 56712541, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550952.6", "url": "https://www.ensembl.org/id/ENST00000550952.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000448035.1", "url": "https://www.ensembl.org/id/ENSP00000448035.1" } ] } }, { "isoform_ac": "F8VNW4-1", "url": "", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSN", "length": 148, "header": "tr|F8VNW4-1|F8VNW4_HUMAN Computationally mapped isoform of Nascent polypeptide associated complex subunit alpha OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56724521, "end_pos": 56713116, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000552055.5", "url": "https://www.ensembl.org/id/ENST00000552055.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450383.1", "url": "https://www.ensembl.org/id/ENSP00000450383.1" } ] } }, { "isoform_ac": "F8VZ58-1", "url": "", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETGSGTESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEA", "length": 126, "header": "tr|F8VZ58-1|F8VZ58_HUMAN Computationally mapped isoform of Nascent polypeptide associated complex subunit alpha OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56724521, "end_pos": 56713540, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549855.5", "url": "https://www.ensembl.org/id/ENST00000549855.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447764.1", "url": "https://www.ensembl.org/id/ENSP00000447764.1" } ] } }, { "isoform_ac": "F8VZJ2-1", "url": "", "sequence": { "sequence": "MSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAIMELTM", "length": 136, "header": "tr|F8VZJ2-1|F8VZJ2_HUMAN Computationally mapped isoform of Nascent polypeptide associated complex subunit alpha OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56713680, "end_pos": 56712541, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546862.6", "url": "https://www.ensembl.org/id/ENST00000546862.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000446933.2", "url": "https://www.ensembl.org/id/ENSP00000446933.2" } ] } }, { "isoform_ac": "F8W029-1", "url": "", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETGSGTESDSDESVPELEEQELLESLSGNLRISSLSSQNQMSTRALLQILT", "length": 72, "header": "tr|F8W029-1|F8W029_HUMAN Computationally mapped isoform of Nascent polypeptide associated complex subunit alpha OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56724521, "end_pos": 56713557, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547914.5", "url": "https://www.ensembl.org/id/ENST00000547914.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446745.1", "url": "https://www.ensembl.org/id/ENSP00000446745.1" } ] } }, { "isoform_ac": "F8W0C7-1", "url": "", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETVVSHLRVWNRI", "length": 34, "header": "tr|F8W0C7-1|NACAM_HUMAN Computationally mapped isoform of Nascent polypeptide-associated complex subunit alpha, muscle-specific form OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56724521, "end_pos": 56714672, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000548084.1", "url": "https://www.ensembl.org/id/ENST00000548084.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000447207.1", "url": "https://www.ensembl.org/id/ENSP00000447207.1" } ] } }, { "isoform_ac": "F8W0W4-1", "url": "", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETGSGTESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRA", "length": 198, "header": "tr|F8W0W4-1|F8W0W4_HUMAN Computationally mapped isoform of Nascent polypeptide associated complex subunit alpha OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56724521, "end_pos": 56712825, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549259.5", "url": "https://www.ensembl.org/id/ENST00000549259.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447133.1", "url": "https://www.ensembl.org/id/ENSP00000447133.1" } ] } }, { "isoform_ac": "H0YHX9-1", "url": "", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETVAAFPLESADPAGVAPTTAKGSGTESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAIMELTM", "length": 235, "header": "tr|H0YHX9-1|NACAM_HUMAN Computationally mapped isoform of Nascent polypeptide-associated complex subunit alpha, muscle-specific form OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=2 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56724521, "end_pos": 56712541, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000550920.6", "url": "https://www.ensembl.org/id/ENST00000550920.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000448039.2", "url": "https://www.ensembl.org/id/ENSP00000448039.2" } ] } }, { "isoform_ac": "Q13765-1", "url": "", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETGSGTESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAIMELTM", "length": 215, "header": "sp|Q13765-1|NACA_HUMAN Computationally mapped isoform of Nascent polypeptide-associated complex subunit alpha OS=Homo sapiens OX=9606 GN=NACA PE=1 SV=1 CANONICAL=E9PAV3-1" }, "locus": { "chromosome": "12", "start_pos": 56724521, "end_pos": 56712541, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000546392.6", "url": "https://www.ensembl.org/id/ENST00000546392.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000446801.1", "url": "https://www.ensembl.org/id/ENSP00000446801.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1058, "start_aa": "Thr", "end_pos": 1058, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1058", "evidence": [ { "id": "E9PAV3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9PAV3" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1059, "start_aa": "Thr", "end_pos": 1059, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1059", "evidence": [ { "id": "E9PAV3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9PAV3" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1063, "start_aa": "Thr", "end_pos": 1063, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1063", "evidence": [ { "id": "E9PAV3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/E9PAV3" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1066, "start_aa": "Ser", "end_pos": 1066, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1066", "evidence": [ { "id": "E9PAV3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9PAV3" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" 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J. Cancer", "date": "2002", "authors": "Behrends U, Jandl T, Golbeck A, Lechner B, Muller-Weihrich S, Schmid I, Till H, Berthold F, Voltz R, Mautner JM", "evidence": [ { "database": "UniProtKB", "id": "Q13765", "url": "https://www.uniprot.org/uniprot/Q13765" } ], "reference": [ { "type": "PubMed", "id": "12209604", "url": "https://glygen.org/publication/PubMed/12209604" } ] }, { "title": "The alpha-chain of the nascent polypeptide-associated complex binds to and regulates FADD function.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2003", "authors": "Stilo Romania, Liguoro Domenico, di Jeso Bruno, Leonardi Antonio, Vito Pasquale", "evidence": [ { "database": "UniProtKB", "id": "Q13765", "url": "https://www.uniprot.org/uniprot/Q13765" } ], "reference": [ { "type": "PubMed", "id": "12684039", "url": "https://glygen.org/publication/PubMed/12684039" } ] }, { "title": "Activation of the JNK-AP-1 signal transduction pathway is associated with pathogenesis and progression of human osteosarcomas.", "journal": "Bone", "date": "2003", "authors": "Papachristou D J, Batistatou A, Sykiotis G P, Varakis I, Papavassiliou A G", "evidence": [ { "database": "UniProtKB", "id": "Q13765", "url": "https://www.uniprot.org/uniprot/Q13765" } ], "reference": [ { "type": "PubMed", "id": "12689679", "url": "https://glygen.org/publication/PubMed/12689679" } ] }, { "title": "GSK3 beta-dependent phosphorylation of the alpha NAC coactivator regulates its nuclear translocation and proteasome-mediated degradation.", "journal": "Biochemistry", "date": "2004", "authors": "Quelo I, Akhouayri O, Prud'homme J, St-Arnaud R", "evidence": [ { "database": "iPTMnet", "id": "Q13765", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13765" } ], "reference": [ { "type": "PubMed", "id": "15005626", "url": "https://glygen.org/publication/PubMed/15005626" } ] }, { "title": "Investigation of alpha nascent polypeptide-associated complex functions in a human CD8(+) T cell ex vivo expansion model using antisense oligonucleotides.", "journal": "Immunology", "date": "2004", "authors": "Al-Shanti N, Steward C G, Garland R J, Rowbottom A W", "evidence": [ { "database": "UniProtKB", "id": "Q13765", "url": "https://www.uniprot.org/uniprot/Q13765" } ], "reference": [ { "type": "PubMed", "id": "15196207", "url": "https://glygen.org/publication/PubMed/15196207" } ] }, { "title": "Integrin-linked kinase regulates the nuclear entry of the c-Jun coactivator alpha-NAC and its coactivation potency.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Quelo I, Gauthier C, Hannigan GE, Dedhar S, St-Arnaud R", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" }, { "database": "iPTMnet", "id": "E9PAV3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/E9PAV3" } ], "reference": [ { "type": "PubMed", "id": "15299025", "url": "https://glygen.org/publication/PubMed/15299025" } ] }, { "title": "NACA is a positive regulator of human erythroid-cell differentiation.", "journal": "Journal of cell science", "date": "2005-04-15", "authors": "Lopez Sophie, Stuhl Laetitia, Fichelson Serge, Dubart-Kupperschmitt Anne, St Arnaud Ren\u00e9, Galindo Jean-R\u00e9my, Murati Anne, Berda Nicole, Dubreuil Patrice, Gomez Sophie", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "reference": [ { "type": "PubMed", "id": "15784678", "url": 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Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "E9PAV3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9PAV3" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "E9PAV3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9PAV3" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "E9PAV3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=E9PAV3" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Isolation of cDNA clones coding for IgE autoantigens with serum IgE from atopic dermatitis patients.", "journal": "FASEB J.", "date": "1998", "authors": "Natter S, Seiberler S, Hufnagl P, Binder BR, Hirschl AM, Ring J, Abeck D, Schmidt T, Valent P, Valenta R", "evidence": [ { "database": "UniProtKB", "id": "Q13765", "url": "https://www.uniprot.org/uniprot/Q13765" } ], "reference": [ { "type": "PubMed", "id": "9806765", "url": "https://glygen.org/publication/PubMed/9806765" } ] }, { "title": "Unregulated exposure of the ribosomal M-site caused by NAC depletion results in delivery of non-secretory polypeptides to the Sec61 complex.", "journal": "FEBS letters", "date": "1998-12-11", "authors": "M\u00f6ller I, Beatrix B, Kreibich G, Sakai H, Lauring B, Wiedmann M", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "reference": [ { "type": "PubMed", "id": "9877153", "url": "https://glygen.org/publication/PubMed/9877153" } ] } ], "pathway": [ { "id": "hsa:4666", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4666", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "M0R9L0-1", "protein_name": "Nascent polypeptide associated complex subunit alpha", "gene_name": "Naca", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETAVLPMSSALNVTAAPGQPGSPSPSSLGPQQSPLVTAAHQSSPLPSSLPSTPFEVPFAQPETAVPSGAAPPAPTFLPHLIGPPISPAALALASPVIGPAQKGARSSSAPLSLVALAPHSIQKSSVCPPHPLTLPPSAAGAESGALTSLTASIPLLESKASTSQVPSQGTPNLKGTTTPCPPDVVSAFPSHLENPLASVQPGLTSCPQTLSITSPVKGVPISSALTQSLLSLNLRGPVSSPPQSTVTPSIPPAASASLGSPLPLLHHSSLDSPVQPPGQSGLTVNTTISVDHPFVAASYPPERSAVSPLPSRHELAADSGAAPSIDKGSSAVTKETCSSSGSANEAGTSLSPAAPLTPKSSNAALQPSVTQVPPPQKPGLKETPASCIRAMHPALDNPSTMSVAPATHVSPPASSGLIKSEDPASPVSSLSVPAAHKPFPAPSMSTTLGIPVSPLPATEGLQNLPISVNAGAPVSPAQAGLPIRKDTTVQTLAPVALKESPSSQSASSLEVLSEDTKKTTGGPAPVVRPAIATGAPTTLDYPPAGYVNPNPVSQPLKSSAPAMAPFLSESCDSKGLVPRTAKDTFPSVNSPLVPLPSEGCPVAPSMALSHQNASVSVTTAKSVPFPAPPSAGVSFSSAKKVDVVSQMESSDSSQEGHPNASVSSQTKRPASKKGSFPSDVSPGNVSSPHCSLETSFLPEAGLSFQGPKGASIVPTETSVSSKKTPAEILPSPQKTPTATASRLTSAVQSPKLDPTVSDVIPATVVPRDTSASLSLKSVPAVTSLSSQKAPAAPSPNEALVAPTEIPTSLKNALATTAPKETLATSTLKVASTAPVVTSPSPQKTPKSVSPKGAPAVTSKKAKEIAASKEVSTSQFPKEAPLLPHAAPTSPPKSPATDPLNGALTSPSPKVAPATLVESPTSPKKAPKTAAPKETPVTPSLEGVTAVPLEINPCPKKAPKTSTPKESSVTLSSKRTPKSAVSKEIPSNEVTAVPLEISLPLKETSKSAIPVEKSTSSSKSSPKTVAPKETLPEEVTAVPLEVSLPPKEMPQNASPRETPPEGVTAVPLEIPPTPKKAPKTSVPKQIPVTPSPKDAFTTLAESPPSPKKAPTTAAPKEVPAAPSVGITAVSEISPSPKKTSKTAVPKEDSATSYPKRSPKTATPKENSTSSPKRSPKIEAPKETLATSPEGVTAMPLEIPPSPAAPASKRVPVTPSPKGASNTLAESSASPKKAPKTAAPKETSTPSPQKIPKMSGPKETPATPPSKKSPKTVAPKETSAPSEGVTALPLKVPPSPRKAPKTAVPKETPAPSPEGVTTALVQIPPSPRKVKRTSSKETPTNPSPEGVTAAPLEIPLTSKKNPKMASPKEMLVTPPSKKVSQTGDPKETPPEGVTAVPLEILPSPKKTPKTVVPKQVPVTPSPKDAPTTLAESPPSPKKAPTTAAPPSERVTTAPPEKPATPQKASATVASKVLVPAETLEVAVSPKETHPSSHKKTPKTVDLKEGPAALPPSPTKSPKISSSKKAQNTSAPIEFPASSSIKAVTTSLAQTVPCVQKAPSTIAPQENSAAPVAIPVSNKSPAAPTTANASVALAAASLSPTPQVKISPSKKTPATSALQTVPKEATTIPSGKKAPAIETSNETSTTLSLKGAPKETSETSTSKGVLTSTVNSSSPKKVPSSKRASTLPATTLPSIKEASVLSPVPTSSTKDSHTYPVSTACSTATTTPQASEKLPAKKEPAALTEVPAAPAPESALAITVPIQKVPRTKRNSASPPKCPDPSAKKDTKGLLSAVALAPQTVPVEKNSSKPIEVLPLCPAKGSDSVHSPKGPMESQEATPQAAFTSDKVLPKAVSKSVAPKPTLAASLTLAPSPVPPLPPKQPFLQSAPESVLESPSKLPVPADEDELPPLIPPEAVSGGVPFQPILVNMPTPKPAGIPAPAPSAKQPVLKNNKGSGTESDSDESVPELEEQDSTQTATQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAIMELTM", "length": 2163 }, "evidence": [ { "id": "45916647", "url": "http://www.informatics.jax.org/homology/45916647", "database": "MGI" }, { "id": "E9PAV3", "url": "https://omabrowser.org/oma/group/E9PAV3/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P70670-1", "protein_name": "Nascent polypeptide-associated complex subunit alpha, muscle-specific form", "gene_name": "Naca", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPGEATETVPATEQELPQPQAETAVLPMSSALKVAAVGQPGPTPPSSLGPQQSPIVTAHQPSPLPSSVSSTPFEVPFAQPITAETALPSGTAPPTPTFLPHLIGPPISPAALALASPMIGLAQKGARSSSAPLSLVALAPHSVQKSSVCPPHPLTSPPSAAGAELGALTASIPPLEPKTSTSQVPSQGTLNLKGTAPCPPDVVRAFPSHLENPLASVQPGLMSCPQTLSNTSPVKGVPISSALTQSRLSLNLKGPVSPPARNTAAPSIPLAPSTSLGCHLPLLHHSSVDSPIQPPGQSGLAVSNPTSVGHSGIAASCPPERCVVPALPSRLLAVDSGAAPSDDKGSSAVTNELCSPPGSSNVAGTSLSPKASLVPKGSNVALQPLVTQVPASQKTGLKEIPVSCIGATHHALDNPSAISVAPATHVPPPTSSGLVSSKDPASPVTSLVVPAAHKQFPAPPASATLGVPVSPLPATEGLKNLPISALVNVGAPVSPAQAGLPTRKDTTLQPLAPIALKESPSSQSASSLEVLSEDTVTKKTTGGPAPVVRPAIAGVATTTSLRADSPPAVIRADSCVSPNTVSQPLKRSVTDPAMAPRTAKNTAPSTTSPLVPLASEGCPVASSMALSPQNASVSETALALSPEIPKSVPFPDPPLAEISFSNARKVDAVSHMESSGSSRQGHPDASVTAKGTVVCLADSSLDTSVSASKGSALSGASSPLYPLEVSFLPEAGLAVQGPKGSLNKLSPTPPSSKGAPVPSTGAPPSPKGAPIVPTESSISSKQVPAEILPSPQKTPEVTASRLISAVQSPKVDPIMSDVTPTSPKKTSATAVPKDTSATLSLKSVPAVTSLSPPKAPVAPSNEATIVPTEIPTSLKNALAAATPKETLATSIPKVTSPSPQKTPKSVSLKGAPAMTSKKATEIAASKDVSPSQFPKEVPLLPHVPPTSPPKSPVSDTLSGALTSPPPKGPPATLAETPTYPKKSPKPAASKKTPATPSPEGVTAVPLEIPPCSKKAPKTAAPKESSATSSSKRAPKTAVSKEIPSKGVTAVPLEISLPLKETSKSATPGEKSASSPKRSPKTAGPKETPPGGVTAVPPEISLPPKETPQNATPNESLAASSQKRSPKTSVPKETPPGGVTAMPLEIPSAPQKAPKTAVPKQIPTPEDAVTILAGSPLSPKKASKTAAPKEAPATPSVGVIAVSGEISPSPKKTSKTAAPKENSATLPPKRSPKTAAPKETPATSSEGVTAVPSEISPSPPTPASKGVPVTLTPKGAPNALAESPASPKKVPKTAAPEETSTTPSPQKIPKVAGPKEASATPPSKKTPKTAVPKETSAPSEGVTAVPLEIPPSPRKAPKTAAPKETPAPSPEGATTAPVQIPPSPRKGSKKAGSKETPTTPSPEGVTAAPLEIPISSKKTSKMASPKETLVTPSSKKLSQTVGPKETSLEGATAVPLEIPPSHKKAPKTVDPKQVPLTPSPKDAPTTLAESPSSPKKAPKTAAPPSERVTTVPPEKPATPQKASATTASKVPVPAETQEVAVSSRETPVTPAVPPVKNPSSHKKTSKTIELKEAPATLPPSPTKSPKIPSSKKAPRTSAPKEFPASPSIKPVTTSLAQTAPPSLQKAPSTTIPKENLAAPAVLPVSSKSPAAPAAASASLSPATAAPQTAPKEATTIPSCKKAAATETPIETSTAPSLEGAPKETSETSVSKVLMSSPPKKASSSKRASTLPATTLPSLKEASVLSPTATSSGKDSHISPVSDACSTGTTTPQASEKLPSKKGPTAFTEMLAAPAPESALAITAPIQKSPGANSNSASSPKCPDPSSKKDTKGLPSAVALAPQTVPVEKDTSKAIETLLVSPAKGSDCLHSPKGPVGSQVATPLAAFTSDKVPPEAVSASVAPKPAPAASLTLAPSPVAPLPPKQPLLESAPGSVLESPSKLPVPAEEDELPPLIPPEAVSGGEPFQPILVNMPAPKPAGTPAPAPSAKQPVLKNNKGSGTESDSDESVPELEEQDSTQTATQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFVITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAIMELTM", "length": 2187 }, "evidence": [ { "id": "45916647", "url": "http://www.informatics.jax.org/homology/45916647", "database": "MGI" }, { "id": "E9PAV3", "url": "https://omabrowser.org/oma/group/E9PAV3/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nascent polypeptide-associated complex", "id": "GO:0005854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005854", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 14, "go_terms": [ { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "regulation of skeletal muscle fiber development", "id": "GO:0048742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048742", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "cardiac ventricle development", "id": "GO:0003231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003231", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue growth", "id": "GO:0048633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048633", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "negative regulation of striated muscle cell apoptotic process", "id": "GO:0010664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010664", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "heart trabecula morphogenesis", "id": "GO:0061384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061384", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation involved in heart morphogenesis", "id": "GO:2000138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000138", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "negative regulation of protein localization to endoplasmic reticulum", "id": "GO:1905551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905551", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "E9PAV3", "url": "https://www.uniprot.org/uniprot/E9PAV3" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1724, "end_pos": 1726, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2052, "end_pos": 2054, "annotation": "n_glycosylation_sequon" }, { "start_pos": 2064, "end_pos": 2066, "annotation": "n_glycosylation_sequon" }, { "start_pos": 420, "end_pos": 422, "annotation": "n_glycosylation_sequon" }, { "start_pos": 615, "end_pos": 617, "annotation": "n_glycosylation_sequon" }, { "start_pos": 823, "end_pos": 825, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylation of Thr-159 by GSK3B may promote proteasome mediated degradation (By similarity). Phosphorylation of Ser-43 by ILK during cell adhesion may promote nuclear localization.", "evidence": [ { "database": "UniProtKB", "id": "Q13765", "url": "https://www.uniprot.org/uniprot/Q13765" }, { "database": "PubMed", "id": "15299025", "url": "https://glygen.org/publication/PubMed/15299025" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 249, 250, 253, 1058, 1059, 1063, 1066, 1109, 1265, 1370, 1449, 1458, 1460, 1461, 1712, 1713 ], "snv_sites": [ 64, 128, 149, 189, 249, 287, 298, 313, 343, 387, 402, 519, 571, 1058, 1059, 1063, 1066, 1265, 1370, 1449, 1458, 1461, 1708, 1712, 1768, 1905, 2035 ], "glycation_sites": [], "phosphorylation_sites": [ 132, 159, 917, 1181, 1397, 1474, 1906, 1995, 2022, 2024, 2029, 2049, 2054, 2066 ], "sequon_annotation_sites": [ { "start_pos": 1724, "end_pos": 1726 }, { "start_pos": 2052, "end_pos": 2054 }, { "start_pos": 2064, "end_pos": 2066 }, { "start_pos": 420, "end_pos": 422 }, { "start_pos": 615, "end_pos": 617 }, { "start_pos": 823, "end_pos": 825 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 17 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 17 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 17 }, { "field": "total_sites", "count": 17 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 17 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 32 }, { "field": "total_sites", "count": 27 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 28 }, { "field": "total_sites", "count": 23 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 31 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }