{ "uniprot_canonical_ac": "O43292-1", "uniprot_ac": "O43292", "uniprot_id": "GPAA1_HUMAN", "mass": { "chemical_mass": 67623.0, "monoisotopic_mass": 67623.0 }, "refseq": { "ac": "NP_003792", "name": "glycosylphosphatidylinositol anchor attachment 1 protein", "summary": "Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" }, "gene_names": [ { "name": "GPAA1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43292", "id": "O43292" }, { "name": "GAA1; GPIBD15; hGAA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792", "id": "NP_003792" }, { "name": "GAA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43292", "id": "O43292" }, { "name": "GPAA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792", "id": "NP_003792" } ], "protein_names": [ { "name": "Glycosylphosphatidylinositol anchor attachment 1 protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43292" }, { "name": "GAA1 protein homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43292" }, { "name": "GPI anchor attachment protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43292" }, { "name": "glycophosphatidylinositol anchor attachment 1; GPI transamidase subunit; anchor attachment protein 1 (Gaa1p, yeast) homolog; GAA1 protein homolog; GPI anchor attachment protein 1; GPAA1P anchor attachment protein 1 homolog; glycosylphosphatidylinositol anchor attachment protein 1 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792", "id": "NP_003792" }, { "name": "glycosylphosphatidylinositol anchor attachment 1 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792", "id": "NP_003792" }, { "name": "hGAA1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43292" } ], "function": [ { "annotation": "A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.", "evidence": [ { "database": "RefSeq", "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" }, { "database": "PubMed", "id": "32533362", "url": "https://glygen.org/publication/PubMed/32533362" } ] }, { "annotation": "Component of the GPI transamidase complex, necessary for transfer of GPI to proteins (PubMed:34576938). Essential for GPI-anchoring of precursor proteins but not for GPI synthesis. Acts before or during formation of the carbonyl intermediate.", "evidence": [ { "database": "UniProtKB", "id": "O43292", "url": "https://www.uniprot.org/uniprot/O43292#function" }, { "database": "PubMed", "id": "34576938", "url": "https://glygen.org/publication/PubMed/34576938" }, { "database": "PubMed", "id": "9468317", "url": "https://glygen.org/publication/PubMed/9468317" }, { "database": "PubMed", "id": "29100095", "url": "https://glygen.org/publication/PubMed/29100095" } ] }, { "annotation": "GPAA1 promotes progression of childhood acute lymphoblastic leukemia through regulating c-myc.", "evidence": [ { "database": "RefSeq", "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" }, { "database": "PubMed", "id": "32432756", "url": "https://glygen.org/publication/PubMed/32432756" } ] }, { "annotation": "Mechanistically, GPAA1 enhanced the levels of metastasis-associated GPI-anchored proteins to increase tumour metastasis and intensified lipid raft formation, which consequently promoted the interaction between EGFR and ERBB2 as well as downstream pro-proliferative signalling. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" }, { "database": "PubMed", "id": "31118109", "url": "https://glygen.org/publication/PubMed/31118109" } ] }, { "annotation": "Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" } ] }, { "annotation": "Structural modelling of the lumenal domain of human GPAA1, the metallo-peptide synthetase subunit of the transamidase complex, reveals zinc-binding mode and two flaps surrounding the active site. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" }, { "database": "PubMed", "id": "32993792", "url": "https://glygen.org/publication/PubMed/32993792" } ] }, { "annotation": "Subunits of the GPI transamidase complex localize to the endoplasmic reticulum and nuclear envelope in Drosophila.", "evidence": [ { "database": "RefSeq", "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" }, { "database": "PubMed", "id": "33496978", "url": "https://glygen.org/publication/PubMed/33496978" } ] } ], "disease": [ { "disease_id": "MONDO:0060627", "recommended_name": { "id": "MONDO:0060627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060627", "name": "glycosylphosphatidylinositol biosynthesis defect 15", "description": "A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated." }, "synonyms": [ { "id": "MONDO:0060627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060627", "name": "glycosylphosphatidylinositol biosynthesis defect 15", "description": "" }, { "id": "MONDO:0060627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060627", "name": "GPIBD15", "description": "" }, { "id": "MONDO:0060627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060627", "name": "developmental delay, epilepsy, cerebellar atrophy, and osteopenia", "description": "" }, { "id": "MIM:617810", "resource": "MIM", "url": "https://www.omim.org/entry/617810", "name": "Glycosylphosphatidylinositol biosynthesis defect 15", "description": "Glycosylphosphatidylinositol biosynthesis defect 15" } ], "evidence": [ { "id": "0060627", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060627" }, { "id": "617810", "database": "MIM", "url": "https://www.omim.org/entry/617810" } ] } ], "snv": [ { "evidence": [ { "id": "rs782651271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782651271" }, { "id": "rs782651271", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782651271" }, { "id": "rs782651271", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782651271" }, { "id": "rs782651271", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs782651271#frequency_tab" }, { "id": "rs782651271", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782651271" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 203, "end_pos": 203, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).", "chr_id": "8", "chr_pos": "144084032", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782658223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782658223" }, { "id": "rs782658223", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782658223" }, { "id": "rs782658223", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs782658223#frequency_tab" }, { "id": "rs782658223", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782658223" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 205, "end_pos": 205, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVA).", "chr_id": "8", "chr_pos": "144084466", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782491794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782491794" }, { "id": "rs782491794", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782491794" }, { "id": "rs782491794", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782491794" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 205, "end_pos": 205, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVI).", "chr_id": "8", "chr_pos": "144084038", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1393431618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393431618" }, { "id": "rs1393431618", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1393431618#frequency_tab" }, { "id": "rs1393431618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393431618" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 205, "end_pos": 205, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVP).", "chr_id": "8", "chr_pos": "144084464", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T205", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781940977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781940977" }, { "id": "rs781940977", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781940977" }, { "id": "rs781940977", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781940977" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 276, "end_pos": 276, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DWT->NWT).", "chr_id": "8", "chr_pos": "144084425", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D276", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782429952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782429952" }, { "id": "rs782429952", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782429952" }, { "id": "rs782429952", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782429952" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 325, "end_pos": 325, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSF->NSS).", "chr_id": "8", "chr_pos": "144084573", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F325", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782299927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782299927" }, { "id": "rs782299927", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782299927" }, { "id": "rs782299927", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs782299927#frequency_tab" }, { "id": "rs782299927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782299927" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 517, "end_pos": 517, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS).", "chr_id": "8", "chr_pos": "144085671", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N517", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43292", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43292" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 517, "end_pos": 517, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFS->TFS).", "chr_id": "8", "chr_pos": "144085671", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N517", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "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 developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs782406808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782406808" }, { "id": "rs782406808", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782406808" }, { "id": "rs782406808", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782406808" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 519, "end_pos": 519, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->NFA).", "chr_id": "8", "chr_pos": "144085676", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S519", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375932039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375932039" }, { "id": "rs375932039", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375932039" }, { "id": "rs375932039", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375932039" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 55, "end_pos": 55, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAM->NAT).", "chr_id": "8", "chr_pos": "144083213", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M55", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43292", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43292" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 82, "end_pos": 82, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", 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"https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43292", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43292" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43292", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43292" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "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": 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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43292", "url": "https://www.uniprot.org/uniprot/O43292" } ], "common_name": "Human" } ], "gene": [ { "name": "GPAA1", "url": "https://www.uniprot.org/uniprot/O43292", "locus": { "chromosome": "8", "start_pos": 144093149, "end_pos": 144082337, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000197858", "url": "https://www.ensembl.org/id/ENSG00000197858" } ] } } ], "crossref": [ { "id": "ENSG00000197858", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000197858", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43292", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43292", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "GPAA1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GPAA1", "database": "GeneCards", "categories": [ 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"url": "https://www.uniprot.org/uniprot/A0A994J6X1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J6X1-1", "url": "https://www.uniprot.org/uniprot/A0A994J6X1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7A1", "url": "https://www.uniprot.org/uniprot/A0A994J7A1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7A1-1", "url": "https://www.uniprot.org/uniprot/A0A994J7A1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7N7", "url": "https://www.uniprot.org/uniprot/A0A994J7N7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A994J7N7-1", "url": "https://www.uniprot.org/uniprot/A0A994J7N7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLV6", "url": "https://www.uniprot.org/uniprot/E9PLV6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PLV6-1", "url": "https://www.uniprot.org/uniprot/E9PLV6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PM11", "url": "https://www.uniprot.org/uniprot/E9PM11", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PM11-1", "url": "https://www.uniprot.org/uniprot/E9PM11-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PM94", "url": "https://www.uniprot.org/uniprot/E9PM94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PM94-1", "url": "https://www.uniprot.org/uniprot/E9PM94-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPZ9", "url": "https://www.uniprot.org/uniprot/E9PPZ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPZ9-1", "url": "https://www.uniprot.org/uniprot/E9PPZ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQ31", "url": "https://www.uniprot.org/uniprot/E9PQ31", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PQ31-1", "url": "https://www.uniprot.org/uniprot/E9PQ31-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43292", "url": "https://www.uniprot.org/uniprot/O43292", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43292-1", "url": "https://www.uniprot.org/uniprot/O43292-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43292-2", "url": "https://www.uniprot.org/uniprot/O43292-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 621, "header": "sp|O43292-1|GPAA1_HUMAN Isoform 1 of Glycosylphosphatidylinositol anchor attachment 1 protein OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=3 CANONICAL=O43292-1" }, "isoforms": [ { "isoform_ac": "A0A994J3S1-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGGKHTGPRQGLDGTEAGSPDLPSTAAGLHRPHQLLTGLPAGHHHGAHCCACQASWAPDPLCCPAGADQPGSHAPWQPVPVAGAAGGATVTGRGLAALPGSASPGCAGAPHLRRPALPTAVPGPLPLLAAFLECALLEVRSACPGWDRDSPRTPFCLLLGK", "length": 580, "header": "tr|A0A994J3S1-1|A0A994J3S1_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086190, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703622.1", "url": "https://www.ensembl.org/id/ENST00000703622.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515406.1", "url": "https://www.ensembl.org/id/ENSP00000515406.1" } ] } }, { "isoform_ac": "A0A994J3S5-1", "url": "", "sequence": { "sequence": "XALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQLAWPCPTIPTGW", "length": 348, "header": "tr|A0A994J3S5-1|A0A994J3S5_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144085579, "end_pos": 144083389, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703634.1", "url": "https://www.ensembl.org/id/ENST00000703634.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515411.1", "url": "https://www.ensembl.org/id/ENSP00000515411.1" } ] } }, { "isoform_ac": "A0A994J3Y5-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 619, "header": "tr|A0A994J3Y5-1|A0A994J3Y5_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703620.1", "url": "https://www.ensembl.org/id/ENST00000703620.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515404.1", "url": "https://www.ensembl.org/id/ENSP00000515404.1" } ] } }, { "isoform_ac": "A0A994J3Y9-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRDLLPERGPVVHASGQAAARGLDIIGWTAAGPADTAAHGSAAGLRPPPRLPWPLPALPCGGPNPAWHQ", "length": 238, "header": "tr|A0A994J3Y9-1|A0A994J3Y9_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144084567, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703631.1", "url": "https://www.ensembl.org/id/ENST00000703631.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515409.1", "url": "https://www.ensembl.org/id/ENSP00000515409.1" } ] } }, { "isoform_ac": "A0A994J3Z2-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRPLSYRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 626, "header": "tr|A0A994J3Z2-1|A0A994J3Z2_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703648.1", "url": "https://www.ensembl.org/id/ENST00000703648.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515415.1", "url": "https://www.ensembl.org/id/ENSP00000515415.1" } ] } }, { "isoform_ac": "A0A994J4D0-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTDLLPERGPVVHASGQAAARGLDIIGWTAAGPADTAAHGSAAGLRPPPRLPWPLPALPCGGPNPAWHQ", "length": 272, "header": "tr|A0A994J4D0-1|GPAA1_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 protein OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144084567, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527144.6", "url": "https://www.ensembl.org/id/ENST00000527144.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000515403.1", "url": "https://www.ensembl.org/id/ENSP00000515403.1" } ] } }, { "isoform_ac": "A0A994J4E7-1", "url": "", "sequence": { "sequence": "XQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTALIHLLLQACSRLPCRAELGPFRQPWPWS", "length": 63, "header": "tr|A0A994J4E7-1|A0A994J4E7_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144084197, "end_pos": 144083939, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703682.1", "url": "https://www.ensembl.org/id/ENST00000703682.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515425.1", "url": "https://www.ensembl.org/id/ENSP00000515425.1" } ] } }, { "isoform_ac": "A0A994J4P7-1", "url": "", "sequence": { "sequence": "MVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 499, "header": "tr|A0A994J4P7-1|GPAA1_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 protein OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144083714, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000704794.1", "url": "https://www.ensembl.org/id/ENST00000704794.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516039.1", "url": "https://www.ensembl.org/id/ENSP00000516039.1" } ] } }, { "isoform_ac": "A0A994J4Q3-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKISSAPCHLPVTSLQSPQL", "length": 406, "header": "tr|A0A994J4Q3-1|A0A994J4Q3_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144084929, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000704808.1", "url": "https://www.ensembl.org/id/ENST00000704808.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516045.1", "url": "https://www.ensembl.org/id/ENSP00000516045.1" } ] } }, { "isoform_ac": "A0A994J4X4-1", "url": "", "sequence": { "sequence": "XALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYPGCGAAAGTGCPLPGADLLGQRYRLPGNRT", "length": 68, "header": "tr|A0A994J4X4-1|A0A994J4X4_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144083986, "end_pos": 144083389, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000704791.1", "url": "https://www.ensembl.org/id/ENST00000704791.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516037.1", "url": "https://www.ensembl.org/id/ENSP00000516037.1" } ] } }, { "isoform_ac": "A0A994J4X7-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLWALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 546, "header": "tr|A0A994J4X7-1|A0A994J4X7_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000704806.1", "url": "https://www.ensembl.org/id/ENST00000704806.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516043.1", "url": "https://www.ensembl.org/id/ENSP00000516043.1" } ] } }, { "isoform_ac": "A0A994J5C8-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 487, "header": "tr|A0A994J5C8-1|GPAA1_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 protein OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000704789.1", "url": "https://www.ensembl.org/id/ENST00000704789.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516036.1", "url": "https://www.ensembl.org/id/ENSP00000516036.1" } ] } }, { "isoform_ac": "A0A994J5D7-1", "url": "", "sequence": { "sequence": "XALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQCWANTLPPSTSQWQRLRLWC", "length": 356, "header": "tr|A0A994J5D7-1|A0A994J5D7_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144085426, "end_pos": 144083389, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000704811.1", "url": "https://www.ensembl.org/id/ENST00000704811.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516047.1", "url": "https://www.ensembl.org/id/ENSP00000516047.1" } ] } }, { "isoform_ac": "A0A994J6H8-1", "url": "", "sequence": { "sequence": "MVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRVSFLLPGWSAVA", "length": 431, "header": "tr|A0A994J6H8-1|GPAA1_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 protein OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144092946, "end_pos": 144083714, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703635.1", "url": "https://www.ensembl.org/id/ENST00000703635.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515412.1", "url": "https://www.ensembl.org/id/ENSP00000515412.1" } ] } }, { "isoform_ac": "A0A994J6I4-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRDLLGQRYRLPGNRT", "length": 185, "header": "tr|A0A994J6I4-1|A0A994J6I4_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144083984, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703672.1", "url": "https://www.ensembl.org/id/ENST00000703672.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515424.1", "url": "https://www.ensembl.org/id/ENSP00000515424.1" } ] } }, { "isoform_ac": "A0A994J6I9-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKVWGWPRSWHLC", "length": 348, "header": "tr|A0A994J6I9-1|A0A994J6I9_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144085322, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703725.1", "url": "https://www.ensembl.org/id/ENST00000703725.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515450.1", "url": "https://www.ensembl.org/id/ENSP00000515450.1" } ] } }, { "isoform_ac": "A0A994J6V5-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYVLGEWDGVGHQRVRHPAGPACCQHRVACAHRALWL", "length": 157, "header": "tr|A0A994J6V5-1|GPAA1_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 protein OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144083802, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526341.6", "url": "https://www.ensembl.org/id/ENST00000526341.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000515386.1", "url": "https://www.ensembl.org/id/ENSP00000515386.1" } ] } }, { "isoform_ac": "A0A994J6W5-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 606, "header": "tr|A0A994J6W5-1|A0A994J6W5_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703621.1", "url": "https://www.ensembl.org/id/ENST00000703621.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515405.1", "url": "https://www.ensembl.org/id/ENSP00000515405.1" } ] } }, { "isoform_ac": "A0A994J6W8-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 607, "header": "tr|A0A994J6W8-1|A0A994J6W8_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703633.1", "url": "https://www.ensembl.org/id/ENST00000703633.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515410.1", "url": "https://www.ensembl.org/id/ENSP00000515410.1" } ] } }, { "isoform_ac": "A0A994J6X1-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRLECNGAILARCNLHLQVQAILLPQPPKYLGLQSFVLVARLECSGVISAHCKLRLLGSSASPASASGVAGITSMRHHTWLILYF", "length": 624, "header": "tr|A0A994J6X1-1|GPAA1_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 protein OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144093062, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000703649.1", "url": "https://www.ensembl.org/id/ENST00000703649.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000515416.1", "url": "https://www.ensembl.org/id/ENSP00000515416.1" } ] } }, { "isoform_ac": "A0A994J7A1-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFREHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 592, "header": "tr|A0A994J7A1-1|A0A994J7A1_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000704809.1", "url": "https://www.ensembl.org/id/ENST00000704809.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516046.1", "url": "https://www.ensembl.org/id/ENSP00000516046.1" } ] } }, { "isoform_ac": "A0A994J7N7-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 604, "header": "tr|A0A994J7N7-1|A0A994J7N7_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000704807.1", "url": "https://www.ensembl.org/id/ENST00000704807.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516044.1", "url": "https://www.ensembl.org/id/ENSP00000516044.1" } ] } }, { "isoform_ac": "E9PLV6-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTALIHLLLQACSRLPCRAELGPFRQPWPWS", "length": 234, "header": "tr|E9PLV6-1|E9PLV6_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144084196, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528073.6", "url": "https://www.ensembl.org/id/ENST00000528073.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000435119.1", "url": "https://www.ensembl.org/id/ENSP00000435119.1" } ] } }, { "isoform_ac": "E9PM11-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRWCRAPTCTASCGPRVLPAPSRLCSPCPVALTLPTARLWGCCWHWLPTSGGRFIGPKISSSW", "length": 158, "header": "tr|E9PM11-1|E9PM11_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144083974, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529503.6", "url": "https://www.ensembl.org/id/ENST00000529503.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000435024.1", "url": "https://www.ensembl.org/id/ENSP00000435024.1" } ] } }, { "isoform_ac": "E9PM94-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLWALPVAWLERTMRWCRAPTCTASCGPRVLPAPSRLCSPCPVALTLPTARLWGCCWHWLPTSGGRFIGPKISSSW", "length": 98, "header": "tr|E9PM94-1|E9PM94_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=1 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144083974, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530633.1", "url": "https://www.ensembl.org/id/ENST00000530633.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000431233.1", "url": "https://www.ensembl.org/id/ENSP00000431233.1" } ] } }, { "isoform_ac": "E9PPZ9-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFREHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 607, "header": "tr|E9PPZ9-1|E9PPZ9_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=2 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524418.6", "url": "https://www.ensembl.org/id/ENST00000524418.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000434544.2", "url": "https://www.ensembl.org/id/ENSP00000434544.2" } ] } }, { "isoform_ac": "E9PQ31-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQ", "length": 348, "header": "tr|E9PQ31-1|E9PQ31_HUMAN Computationally mapped isoform of Glycosylphosphatidylinositol anchor attachment 1 OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=3 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144085138, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000525087.6", "url": "https://www.ensembl.org/id/ENST00000525087.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000434485.3", "url": "https://www.ensembl.org/id/ENSP00000434485.3" } ] } }, { "isoform_ac": "O43292-1", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLCVLSYVAGIAWFLALVFPPLTQRTYMSENAMGSTMVEEQFAGGDRARAFARDFAAHRKKSGALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 621, "header": "sp|O43292-1|GPAA1_HUMAN Isoform 1 of Glycosylphosphatidylinositol anchor attachment 1 protein OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=3 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000355091.9", "url": "https://www.ensembl.org/id/ENST00000355091.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000347206.4", "url": "https://www.ensembl.org/id/ENSP00000347206.4" } ] } }, { "isoform_ac": "O43292-2", "url": "", "sequence": { "sequence": "MGLLSDPVRRRALARLVLRLNAPLWALPVAWLERTMRSVGLEVYTQSFSRKLPFPDETHERYMVSGTNVYGILRAPRAASTESLVLTVPCGSDSTNSQAVGLLLALAAHFRGQIYWAKDIVFLVTEHDLLGTEAWLEAYHDVNVTGMQSSPLQGRAGAIQAAVALELSSDVVTSLDVAVEGLNGQLPNLDLLNLFQTFCQKGGLLCTLQGKLQPEDWTSLDGPLQGLQTLLLMVLRQASGRPHGSHGLFLRYRVEALTLRGINSFRQYKYDLVAVGKALEGMFRKLNHLLERLHQSFFLYLLPGLSRFVSIGLYMPAVGFLLLVLGLKALELWMQLHEAGMGLEEPGGAPGPSVPLPPSQGVGLASLVAPLLISQAMGLALYVLPVLGQHVATQHFPVAEAEAVVLTLLAIYAAGLALPHNTHRVVSTQAPDRGWMALKLVALIYLALQLGCIALTNFSLGFLLATTMVPTAALAKPHGPRTLYAALLVLTSPAATLLGSLFLWRELQEAPLSLAEGWQLFLAALAQGVLEHHTYGALLFPLLSLGLYPCWLLFWNVLFWK", "length": 561, "header": "sp|O43292-2|GPAA1_HUMAN Isoform 2 of Glycosylphosphatidylinositol anchor attachment 1 protein OS=Homo sapiens OX=9606 GN=GPAA1 PE=1 SV=3 CANONICAL=O43292-1" }, "locus": { "chromosome": "8", "start_pos": 144086122, "end_pos": 144082731, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361036.11", "url": "https://www.ensembl.org/id/ENST00000361036.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000354316.6", "url": "https://www.ensembl.org/id/ENSP00000354316.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 203, "start_aa": "Asn", "end_pos": 203, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn203", "evidence": [ { "id": "O43292", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43292#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 517, "start_aa": "Asn", "end_pos": 517, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn517", "evidence": [ { "id": "O43292", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43292#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 107, "end_pos": 107, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43292", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43292" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser107" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Human and mouse GPAA1 (glycosylphosphatidylinositol anchor attachment 1) genes: genomic structures, chromosome loci and the presence of a minor class intron.", "journal": "Cytogenet. Cell Genet.", "date": "1999", "authors": "Inoue N, Ohishi K, Endo Y, Fujita T, Takeda J, Kinoshita T", "evidence": [ { "database": "UniProtKB", "id": "O43292", "url": "https://www.uniprot.org/uniprot/O43292" } ], "reference": [ { "type": "PubMed", "id": "10393431", "url": "https://glygen.org/publication/PubMed/10393431" } ] }, { "title": "PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8.", "journal": "EMBO J.", "date": "2001", "authors": "Ohishi K, Inoue N, Kinoshita T", "evidence": [ { "database": "UniProtKB", "id": "O43292", "url": "https://www.uniprot.org/uniprot/O43292" }, { "database": "Reactome", "id": "R-HSA-162791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162791" } ], "reference": [ { "type": "PubMed", "id": "11483512", "url": "https://glygen.org/publication/PubMed/11483512" } ] }, { "title": "Human PIG-U and yeast Cdc91p are the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins.", "journal": "Molecular biology of the cell", "date": "2003", "authors": "Hong Y, Ohishi K, Kang JY, Tanaka S, Inoue N, Nishimura J, Maeda Y, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-162791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162791" } ], "reference": [ { "type": "PubMed", "id": "12802054", "url": "https://glygen.org/publication/PubMed/12802054" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O43292-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43292-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.", "journal": "American journal of human genetics", "date": "2017", "authors": "Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lonnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM", "evidence": [ { "database": "UniProtKB", "id": "O43292", "url": "https://www.uniprot.org/uniprot/O43292" } ], "reference": [ { "type": "PubMed", "id": "29100095", "url": "https://glygen.org/publication/PubMed/29100095" } ] }, { "title": "GPAA1 promotes gastric cancer progression via upregulation of GPI-anchored protein and enhancement of ERBB signalling pathway.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2019", "authors": "Zhang XX, Ni B, Li Q, Hu LP, Jiang SH, Li RK, Tian GA, Zhu LL, Li J, Zhang XL, Zhang YL, Yang XM, Yang Q, Wang YH, Zhu CC, Zhang ZG", "evidence": [ { "database": "RefSeq", "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" } ], "reference": [ { "type": "PubMed", "id": "31118109", "url": "https://glygen.org/publication/PubMed/31118109" } ] }, { "title": "GPAA1 promotes progression of childhood acute lymphoblastic leukemia through regulating c-myc.", "journal": "European review for medical and pharmacological sciences", "date": "2020", "authors": "Zhang JX, Wang JH, Sun XG, Hou TZ", "evidence": [ { "database": "RefSeq", "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" } ], "reference": [ { "type": "PubMed", "id": "32432756", "url": "https://glygen.org/publication/PubMed/32432756" } ] }, { "title": "A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.", "journal": "Human genetics", "date": "2020", "authors": "Li Y, Yang L, Yang J, Shi J, Chai P, Ge S, Wang Y, Fan X, Jia R", "evidence": [ { "database": "RefSeq", "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" } ], "reference": [ { "type": "PubMed", "id": "32533362", "url": "https://glygen.org/publication/PubMed/32533362" } ] }, { "title": "Structural modelling of the lumenal domain of human GPAA1, the metallo-peptide synthetase subunit of the transamidase complex, reveals zinc-binding mode and two flaps surrounding the active site.", "journal": "Biology direct", "date": "2020", "authors": "Su CT, Sinha S, Eisenhaber B, Eisenhaber F", "evidence": [ { "database": "RefSeq", "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" } ], "reference": [ { "type": "PubMed", "id": "32993792", "url": "https://glygen.org/publication/PubMed/32993792" } ] }, { "title": "Subunits of the GPI transamidase complex localize to the endoplasmic reticulum and nuclear envelope in Drosophila.", "journal": "FEBS letters", "date": "2021", "authors": "Kawaguchi K, Yamamoto-Hino M, Matsuyama N, Suzuki E, Goto S", "evidence": [ { "database": "RefSeq", "id": "NP_003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003792" } ], "reference": [ { "type": "PubMed", "id": "33496978", "url": "https://glygen.org/publication/PubMed/33496978" } ] }, { "title": "Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit.", "journal": "Molecules (Basel, Switzerland)", "date": "2021", "authors": "Liu SS, Jin F, Liu YS, Murakami Y, Sugita Y, Kato T, Gao XD, Kinoshita T, Hattori M, Fujita M", "evidence": [ { "database": "UniProtKB", "id": "O43292", "url": "https://www.uniprot.org/uniprot/O43292" } ], "reference": [ { "type": "PubMed", "id": "34576938", "url": "https://glygen.org/publication/PubMed/34576938" } ] }, { "title": "The affected gene underlying the class K glycosylphosphatidylinositol (GPI) surface protein defect codes for the GPI transamidase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Yu J, Nagarajan S, Knez JJ, Udenfriend S, Chen R, Medof ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-162791", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162791" } ], "reference": [ { "type": "PubMed", "id": "9356492", "url": "https://glygen.org/publication/PubMed/9356492" } ] }, { "title": "Molecular cloning of human homolog of yeast GAA1 which is required for attachment of glycosylphosphatidylinositols to proteins.", "journal": "FEBS letters", "date": "1998-01-16", "authors": "Hiroi Y, Komuro I, Chen R, Hosoda T, Mizuno T, Kudoh S, Georgescu S P, Medof M E, Yazaki Y", "evidence": [ { "database": "UniProtKB", "id": "O43292", "url": "https://www.uniprot.org/uniprot/O43292" } ], "reference": [ { "type": "PubMed", "id": "9468317", "url": "https://glygen.org/publication/PubMed/9468317" } ] } ], "pathway": [ { "id": "hsa:8733", "name": "", "url": 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