{ "uniprot_canonical_ac": "P11171-1", "uniprot_ac": "P11171", "uniprot_id": "EPB41_HUMAN", "mass": { "chemical_mass": 97017.0, "monoisotopic_mass": 97017.0 }, "refseq": { "ac": "NP_001159477", "name": "protein 4.1 isoform 1", "summary": "The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477" }, "gene_names": [ { "name": "EPB41", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11171", "id": "P11171" }, { "name": "4.1R; EL1; HE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477", "id": "NP_001159477" }, { "name": "E41P", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11171", "id": "P11171" }, { "name": "EPB41", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477", "id": "NP_001159477" }, { "name": "hCG_23375", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11171", "id": "P11171" } ], "protein_names": [ { "name": "Protein 4.1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11171" }, { "name": "4.1R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11171" }, { "name": "Band 4.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11171" }, { "name": "EPB4.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11171" }, { "name": "Erythrocyte membrane protein band 4.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11171" }, { "name": "P4.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11171" }, { "name": "protein 4.1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477", "id": "NP_001159477" }, { "name": "protein 4.1; erythrocyte surface protein band 4.1; P4.1; EPB4.1; elliptocytosis 1, RH-linked", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477", "id": "NP_001159477" } ], "function": [ { "annotation": "Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.", "evidence": [ { "database": "RefSeq", "id": "NP_001159477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477" }, { "database": "PubMed", "id": "33942936", "url": "https://glygen.org/publication/PubMed/33942936" } ] }, { "annotation": "EPB41 suppresses the Wnt/beta-catenin signaling in non-small cell lung cancer by sponging ALDOC.", "evidence": [ { "database": "RefSeq", "id": "NP_001159477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477" }, { "database": "PubMed", "id": "33242559", "url": "https://glygen.org/publication/PubMed/33242559" } ] }, { "annotation": "Epithelial-specific isoforms of protein 4.1R promote adherens junction assembly in maturing epithelia.", "evidence": [ { "database": "RefSeq", "id": "NP_001159477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477" }, { "database": "PubMed", "id": "31776189", "url": "https://glygen.org/publication/PubMed/31776189" } ] }, { "annotation": "Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127).", "evidence": [ { "database": "UniProtKB", "id": "P11171", "url": "https://www.uniprot.org/uniprot/P11171#function" }, { "database": "PubMed", "id": "23870127", "url": "https://glygen.org/publication/PubMed/23870127" } ] }, { "annotation": "The c.1215G>A mutation of the EPB41 gene probably accounts for the Elliptocytosis in this family", "evidence": [ { "database": "RefSeq", "id": "NP_001159477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477" }, { "database": "PubMed", "id": "31950797", "url": "https://glygen.org/publication/PubMed/31950797" } ] }, { "annotation": "The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001159477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477" } ] }, { "annotation": "The role of lnc-EPB41-1-1 in congenital pouch colon Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001159477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159477" }, { "database": "PubMed", "id": "30227690", "url": "https://glygen.org/publication/PubMed/30227690" } ] } ], "disease": [ { "disease_id": "DOID:2373", "recommended_name": { "id": "DOID:2373", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2373", "name": "hereditary elliptocytosis", "description": "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present." }, "synonyms": [ { "id": "DOID:2373", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2373", "name": "Congenital elliptocytosis", "description": "" }, { "id": "DOID:2373", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2373", "name": "ovalocytosis", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis 2", "description": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "SPTA1 hereditary elliptocytosis", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis 2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis type 2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis-2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "hereditary elliptocytosis caused by mutation in SPTA1", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "EL2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis, Rhesus-unlinked type", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "elliptocytosis 1", "description": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene." }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "EPB41 hereditary elliptocytosis", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "elliptocytosis 1", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "elliptocytosis type 1", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "elliptocytosis-1", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "hereditary elliptocytosis caused by mutation in EPB41", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "4.1- trait", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "4.1-minus trait", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "EL1", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "Protein 4.1 of erythrocyte Membrane, defect of", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "elliptocytosis, Rhesus-linked type", "description": "" }, { "id": "MIM:130600", "resource": "MIM", "url": "https://www.omim.org/entry/130600", "name": "Elliptocytosis 2", "description": "Elliptocytosis 2" }, { "id": "MIM:611804", "resource": "MIM", "url": "https://www.omim.org/entry/611804", "name": "Elliptocytosis 1", "description": "Elliptocytosis 1" } ], "evidence": [ { "id": "611804", "database": "MIM", "url": "https://www.omim.org/entry/611804" } ] } ], "snv": [ { "evidence": [ { "id": "rs769005503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769005503" }, { "id": "rs769005503", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769005503" }, { "id": "rs769005503", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769005503" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 218, "end_pos": 218, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDT->NDT).", "chr_id": "1", "chr_pos": "28993513", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D218", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1200237821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1200237821" }, { "id": "rs1200237821", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1200237821" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 29, "end_pos": 29, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSG->NSS).", "chr_id": "1", "chr_pos": "29053181", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G29", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748156133", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748156133" }, { "id": "rs748156133", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748156133" }, { "id": "rs748156133", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748156133#frequency_tab" }, { "id": "rs748280138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748280138" }, { "id": "rs748280138", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748280138" }, { "id": "rs748280138", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748280138#frequency_tab" }, { "id": "rs748280138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748280138" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 439, "end_pos": 439, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "1", "chr_pos": "29058852", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K439", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758741883", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758741883" }, { "id": "rs758741883", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758741883" }, { "id": "rs758741883", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758741883" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 534, "end_pos": 534, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TAS->NAS).", "chr_id": "1", "chr_pos": "29058827", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T534", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs377642732", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377642732" }, { "id": "rs377642732", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377642732" }, { "id": "rs377642732", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377642732#frequency_tab" }, { "id": "rs377642732", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377642732" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 553, "end_pos": 553, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DRS->NRS).", "chr_id": "1", "chr_pos": "29053124", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D553", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs777797434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777797434" }, { "id": "rs777797434", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777797434" }, { "id": "rs777797434", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777797434#frequency_tab" }, { "id": "rs777797434", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777797434" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 667, "end_pos": 667, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLM->NLT).", "chr_id": "1", "chr_pos": "29060477", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M667", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs35738494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35738494" }, { "id": "rs35738494", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35738494" }, { "id": "rs35738494", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs35738494#frequency_tab" }, { "id": "rs35738494", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs35738494" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 720, "end_pos": 720, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "1", "chr_pos": "29065133", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N720", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769129156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769129156" }, { "id": "rs769129156", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769129156" }, { "id": "rs769129156", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769129156#frequency_tab" }, { "id": "rs769129156", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769129156" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 744, "end_pos": 744, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "1", "chr_pos": "29097853", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N744", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1302220038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1302220038" }, { "id": "rs1302220038", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1302220038#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 74, "end_pos": 74, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "1", "chr_pos": "29064995", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S74", "disease": [ { "disease_id": "DOID:2373", "recommended_name": { "id": "DOID:2373", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2373", "name": "hereditary elliptocytosis", "description": "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present." }, "synonyms": [ { "id": "DOID:2373", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2373", "name": "Congenital elliptocytosis", "description": "" }, { "id": "DOID:2373", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2373", "name": "ovalocytosis", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis 2", "description": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "SPTA1 hereditary elliptocytosis", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis 2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis type 2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis-2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "hereditary elliptocytosis caused by mutation in SPTA1", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "EL2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis, Rhesus-unlinked type", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "elliptocytosis 1", "description": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene." }, { "id": "MONDO:0012731", 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"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": "P11171", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11171" } ], "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": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P11171", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11171" } ], "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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": 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"categories": [ "Protein" ] }, { "id": "P11171-2", "url": "https://www.uniprot.org/uniprot/P11171-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11171-3", "url": "https://www.uniprot.org/uniprot/P11171-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11171-4", "url": "https://www.uniprot.org/uniprot/P11171-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11171-5", "url": "https://www.uniprot.org/uniprot/P11171-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11171-6", "url": "https://www.uniprot.org/uniprot/P11171-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11171-7", "url": "https://www.uniprot.org/uniprot/P11171-7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE", "length": 864, "header": "sp|P11171-1|EPB41_HUMAN Isoform 1 of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=4 CANONICAL=P11171-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GWG0-1", "url": "", "sequence": { "sequence": "XVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVKKTSVLPSERKDEEKIKRQERSTERALPQQENEEILPKVSIPIPEDHKSLKKCHLYFSTFPSPRIPFMMSFLVILVLAVWWLVFL", "length": 483, "header": "tr|A0A1B0GWG0-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29070613, "end_pos": 29015692, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636666.1", "url": "https://www.ensembl.org/id/ENST00000636666.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490911.1", "url": "https://www.ensembl.org/id/ENSP00000490911.1" } ] } }, { "isoform_ac": "A0A2R8Y420-1", "url": "", "sequence": { "sequence": "MHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGKNYGLGTMAHACNPSTLGGQDRQIT", "length": 544, "header": "tr|A0A2R8Y420-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29065758, "end_pos": 28993489, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646800.1", "url": "https://www.ensembl.org/id/ENST00000646800.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493575.1", "url": "https://www.ensembl.org/id/ENSP00000493575.1" } ] } }, { "isoform_ac": "A0A2R8Y4N6-1", "url": "", "sequence": { "sequence": "XDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVKKTSVLPSERKVGGPESPSYFLPDTYHLGVCKEPVLNFQTDQRRLAQLRELRAKFFLS", "length": 387, "header": "tr|A0A2R8Y4N6-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29069293, "end_pos": 29018359, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644848.1", "url": "https://www.ensembl.org/id/ENST00000644848.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493958.1", "url": "https://www.ensembl.org/id/ENSP00000493958.1" } ] } }, { "isoform_ac": "A0A2R8Y570-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVKKTSVLPSERKVGGPESPSYFLPDTYHLGVCKEPVLNFQTDQRRLAQLRELRAKFFLS", "length": 766, "header": "tr|A0A2R8Y570-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29069291, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643173.1", "url": "https://www.ensembl.org/id/ENST00000643173.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494244.1", "url": "https://www.ensembl.org/id/ENSP00000494244.1" } ] } }, { "isoform_ac": "A0A2R8Y5C8-1", "url": "", "sequence": { "sequence": "XDGAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGSPSYFLPDTYHLGVCKEPVLNFQTDQRRLAQLRELRAKFFLS", "length": 227, "header": "tr|A0A2R8Y5C8-1|A0A2R8Y5C8_HUMAN Computationally mapped isoform of Erythrocyte membrane protein band 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29069292, "end_pos": 29039418, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644470.1", "url": "https://www.ensembl.org/id/ENST00000644470.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494357.1", "url": "https://www.ensembl.org/id/ENSP00000494357.1" } ] } }, { "isoform_ac": "A0A2R8Y5G2-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVKKTSVLPSERKSPSYFLPDTYHLGVCKEPVLNFQTDQRRLAQLRELRAKFFLS", "length": 782, "header": "tr|A0A2R8Y5G2-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29069291, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643604.1", "url": "https://www.ensembl.org/id/ENST00000643604.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494435.1", "url": "https://www.ensembl.org/id/ENSP00000494435.1" } ] } }, { "isoform_ac": "A0A2R8Y5Z6-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVKKTSVLPSERKVGGPESPSYFLPDTYHLGVCKEPVLNFQTDQRRLAQLRELRAKFFLS", "length": 787, "header": "tr|A0A2R8Y5Z6-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29069291, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644600.1", "url": "https://www.ensembl.org/id/ENST00000644600.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494945.1", "url": "https://www.ensembl.org/id/ENSP00000494945.1" } ] } }, { "isoform_ac": "A0A2R8Y6D0-1", "url": "", "sequence": { "sequence": "MHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVKKTSVLPSERKVGGPESPSYFLPDTYHLGVCKEPVLNFQTDQRRLAQLRELRAKFFLS", "length": 542, "header": "tr|A0A2R8Y6D0-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29069291, "end_pos": 28993489, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644342.1", "url": "https://www.ensembl.org/id/ENST00000644342.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495138.1", "url": "https://www.ensembl.org/id/ENSP00000495138.1" } ] } }, { "isoform_ac": "A0A2R8Y6G5-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVSTLST", "length": 680, "header": "tr|A0A2R8Y6G5-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29065176, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645184.1", "url": "https://www.ensembl.org/id/ENST00000645184.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495300.1", "url": "https://www.ensembl.org/id/ENSP00000495300.1" } ] } }, { "isoform_ac": "A0A2R8Y6T6-1", "url": "", "sequence": { "sequence": "XDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKLLKLLGRSSARRGGSHL", "length": 364, "header": "tr|A0A2R8Y6T6-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29031840, "end_pos": 28987611, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642643.1", "url": "https://www.ensembl.org/id/ENST00000642643.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495763.1", "url": "https://www.ensembl.org/id/ENSP00000495763.1" } ] } }, { "isoform_ac": "A0A2R8Y783-1", "url": "", "sequence": { "sequence": "XGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGSINGIRTEEVAVVTKGPSTNPDSEWEGPKHSVVPSKSQMTTSSESLQSFAFGSLSISSKETEEKEEGAAGYLDIKEMPRGPTGGCIGVEEQASALKFSVTPASCQLQPGVKKAESSEEHVTPGEPPGKQNGSFLDFHVGNQFPTLIRSFQPPLVKTQTVTISDNANAVKSEIPTKDVPIVHT", "length": 310, "header": "tr|A0A2R8Y783-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29097903, "end_pos": 29053164, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646871.1", "url": "https://www.ensembl.org/id/ENST00000646871.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496077.1", "url": "https://www.ensembl.org/id/ENSP00000496077.1" } ] } }, { "isoform_ac": "A0A2R8Y7N0-1", "url": "", "sequence": { "sequence": "MHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVKKTSVLPSERKVGGPETQERALLVQDEEKIKRQERSTERALPQQENEEILPKVSIPIPEDHKSLKKCHLYFSTFPSPRIPFMMSFLVILVLAVWWLVFL", "length": 565, "header": "tr|A0A2R8Y7N0-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29070612, "end_pos": 28993489, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646189.1", "url": "https://www.ensembl.org/id/ENST00000646189.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496138.1", "url": "https://www.ensembl.org/id/ENSP00000496138.1" } ] } }, { "isoform_ac": "A0A2R8Y7Y3-1", "url": "", "sequence": { "sequence": "MHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE", "length": 601, "header": "tr|A0A2R8Y7Y3-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29115794, "end_pos": 28993489, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647103.1", "url": "https://www.ensembl.org/id/ENST00000647103.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496326.1", "url": "https://www.ensembl.org/id/ENSP00000496326.1" } ] } }, { "isoform_ac": "A0A2R8YCW8-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVKKTSVLPSERKVGGPEDEEKIKRQERSTERALPQQENEEILPKVSIPIPEDHKSLKKCHLYFSTFPSPRIPFMMSFLVILVLAVWWLVFL", "length": 748, "header": "tr|A0A2R8YCW8-1|A0A2R8YCW8_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29070612, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644780.1", "url": "https://www.ensembl.org/id/ENST00000644780.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494042.1", "url": "https://www.ensembl.org/id/ENSP00000494042.1" } ] } }, { "isoform_ac": "A0A2R8YD30-1", "url": "", "sequence": { "sequence": "MHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE", "length": 655, "header": "tr|A0A2R8YD30-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29115794, "end_pos": 28993489, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642937.2", "url": "https://www.ensembl.org/id/ENST00000642937.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000494212.1", "url": "https://www.ensembl.org/id/ENSP00000494212.1" } ] } }, { "isoform_ac": "A0A2R8YFR9-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGV", "length": 675, "header": "tr|A0A2R8YFR9-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29065161, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646260.1", "url": "https://www.ensembl.org/id/ENST00000646260.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496675.1", "url": "https://www.ensembl.org/id/ENSP00000496675.1" } ] } }, { "isoform_ac": "A0A2R8YFU8-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPHHYN", "length": 161, "header": "tr|A0A2R8YFU8-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 28989370, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643155.1", "url": "https://www.ensembl.org/id/ENST00000643155.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496751.1", "url": "https://www.ensembl.org/id/ENSP00000496751.1" } ] } }, { "isoform_ac": "A0A2U3TZH6-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVKKTSVLPSERKPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE", "length": 841, "header": "tr|A0A2U3TZH6-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29115794, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000349460.9", "url": "https://www.ensembl.org/id/ENST00000349460.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000317597.8", "url": "https://www.ensembl.org/id/ENSP00000317597.8" } ] } }, { "isoform_ac": "A0A3B3ITC5-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEKSRFVTQAGVQWRHLSSPQPLPLRFK", "length": 481, "header": "tr|A0A3B3ITC5-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29035083, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648891.1", "url": "https://www.ensembl.org/id/ENST00000648891.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497843.1", "url": "https://www.ensembl.org/id/ENSP00000497843.1" } ] } }, { "isoform_ac": "A0A3B3ITP0-1", "url": "", "sequence": { "sequence": "MHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE", "length": 542, "header": "tr|A0A3B3ITP0-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29115794, "end_pos": 28993489, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649717.1", "url": "https://www.ensembl.org/id/ENST00000649717.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497875.1", "url": "https://www.ensembl.org/id/ENSP00000497875.1" } ] } }, { "isoform_ac": "A0A3B3IU06-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVKKTSVLPSERKVGGPETQERALLVQDEEKIKRQERSTERALPQQENEEILPKVSIPIPEDHKSLKKCHLYFSTFPSPRIPFMMSFLVILVLAVWWLVFL", "length": 807, "header": "tr|A0A3B3IU06-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29070612, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650265.1", "url": "https://www.ensembl.org/id/ENST00000650265.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498003.1", "url": "https://www.ensembl.org/id/ENSP00000498003.1" } ] } }, { "isoform_ac": "A0A3B3IUD6-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVSTLST", "length": 607, "header": "tr|A0A3B3IUD6-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29065176, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648181.1", "url": "https://www.ensembl.org/id/ENST00000648181.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498195.1", "url": "https://www.ensembl.org/id/ENSP00000498195.1" } ] } }, { "isoform_ac": "A0A994J847-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVKKTSVLPSERKVGGPETQERALLVQDEEKIKRQERSTERALPQQENEEILPKVSIPIPEDHKSLKKCHLYFSTFPSPRIPFMMSFLVILVLAVWWLVFL", "length": 828, "header": "tr|A0A994J847-1|EPB41_HUMAN Computationally mapped isoform of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=1 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29070612, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000706361.1", "url": "https://www.ensembl.org/id/ENST00000706361.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516349.1", "url": "https://www.ensembl.org/id/ENSP00000516349.1" } ] } }, { "isoform_ac": "P11171-1", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE", "length": 864, "header": "sp|P11171-1|EPB41_HUMAN Isoform 1 of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=4 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29115794, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000343067.9", "url": "https://www.ensembl.org/id/ENST00000343067.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000345259.4", "url": "https://www.ensembl.org/id/ENSP00000345259.4" } ] } }, { "isoform_ac": "P11171-2", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE", "length": 831, "header": "sp|P11171-2|EPB41_HUMAN Isoform 2 of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=4 CANONICAL=P11171-1" }, "locus": {} }, { "isoform_ac": "P11171-3", "url": "", "sequence": { "sequence": "MHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE", "length": 641, "header": "sp|P11171-3|EPB41_HUMAN Isoform 3 of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=4 CANONICAL=P11171-1" }, "locus": {} }, { "isoform_ac": "P11171-4", "url": "", "sequence": { "sequence": "MHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE", "length": 588, "header": "sp|P11171-4|EPB41_HUMAN Isoform 4 of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=4 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29115794, "end_pos": 28993489, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373800.7", "url": "https://www.ensembl.org/id/ENST00000373800.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000362906.3", "url": "https://www.ensembl.org/id/ENSP00000362906.3" } ] } }, { "isoform_ac": "P11171-5", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVETWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE", "length": 775, "header": "sp|P11171-5|EPB41_HUMAN Isoform 5 of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=4 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29115794, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000347529.7", "url": "https://www.ensembl.org/id/ENST00000347529.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000290100.6", "url": "https://www.ensembl.org/id/ENSP00000290100.6" } ] } }, { "isoform_ac": "P11171-6", "url": "", "sequence": { "sequence": "MHCKVSLLDDTVYECVVETWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE", "length": 566, "header": "sp|P11171-6|EPB41_HUMAN Isoform 6 of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=4 CANONICAL=P11171-1" }, "locus": {} }, { "isoform_ac": "P11171-7", "url": "", "sequence": { "sequence": "MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKEDEPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKKRERLDGENIYIRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGVSTLST", "length": 720, "header": "sp|P11171-7|EPB41_HUMAN Isoform 7 of Protein 4.1 OS=Homo sapiens OX=9606 GN=EPB41 PE=1 SV=4 CANONICAL=P11171-1" }, "locus": { "chromosome": "1", "start_pos": 29065176, "end_pos": 28987438, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373797.2", "url": "https://www.ensembl.org/id/ENST00000373797.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000362903.1", "url": "https://www.ensembl.org/id/ENSP00000362903.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 491, "start_aa": "Ser", "end_pos": 491, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser491", "evidence": [ { "id": "P11171", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11171" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "2808371", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2808371" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "P11171", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11171" }, { "id": "515", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/515" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "SPRPTSAPAITQGQVAEGGVLDASAK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 555, "start_aa": "Ser", "end_pos": 580, "end_aa": "Lys", "evidence": [ { "id": "P11171", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 760, "start_aa": "Thr", "end_pos": 760, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr760", "evidence": [ { "id": "P11171", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11171" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "2808371", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2808371" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "P11171", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 792, "start_aa": "Ser", "end_pos": 792, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser792", "evidence": [ { "id": "P11171", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11171" }, { "id": "2808371", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2808371" }, { "id": "515", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/515" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "515", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/515" }, { "id": "3117790", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3117790" } ] } ], "phosphorylation": [ { "start_pos": 104, "end_pos": 104, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11171", "url": "https://www.uniprot.org/uniprot/P11171" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P11171", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11171" } ], "site_lbl": "Ser104" }, { "start_pos": 121, "end_pos": 121, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11171", "url": "https://www.uniprot.org/uniprot/P11171" } ], "site_lbl": "Ser121" }, { "start_pos": 149, "end_pos": 149, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11171", "url": "https://www.uniprot.org/uniprot/P11171" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "P11171", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11171" } ], "site_lbl": "Ser149" }, { "start_pos": 14, "end_pos": 14, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11171", "url": "https://www.uniprot.org/uniprot/P11171" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "P11171", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11171" } ], "site_lbl": "Ser14" }, { "start_pos": 151, "end_pos": 151, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11171", "url": "https://www.uniprot.org/uniprot/P11171" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "P11171", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11171" } ], "site_lbl": "Ser151" }, { "start_pos": 152, "end_pos": 152, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11171", "url": "https://www.uniprot.org/uniprot/P11171" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "P11171", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11171" } ], "site_lbl": "Ser152" }, { "start_pos": 188, "end_pos": 188, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11171", "url": "https://www.uniprot.org/uniprot/P11171" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "phospho.ELM", "id": "P11171", "url": "http://phospho.elm.eu.org/byAccession/P11171.html" }, { "database": "iPTMnet", "id": "P11171", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11171" } ], "site_lbl": "Ser188" }, { "start_pos": 191, "end_pos": 191, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11171", "url": "https://www.uniprot.org/uniprot/P11171" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": 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