{ "uniprot_canonical_ac": "A4FU69-1", "ptm_annotation": [], "sequence": { "header": "sp|A4FU69-1|EFCB5_HUMAN Isoform 1 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 1503, "sequence": "MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVPVKEDTNSVVEKAMDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTYKEGMEKESMKKAKLHIQFPKPHPGHEVRLSSKQFQNYIELVVSELRGNEDQVLESVVEFLMNALERSHIESLRNSARRKWLHQIQCAAETSGVSLEPVYSETFKALMQDAEAHGNKKISAHISLLEENLLLPEKGNVLLRNVACTLDDAQFVLNRVLYRDMKGISFTVVDEGKPIHVPQVQYHGNIFFWNQSRNKHDYNGSFLALPLQDAYMRIFGVLAVDTLRDPHEINIFLPHEIRFYQGVANVFSTAYHYVHSREHILHIVITGIGWLYDVTSSITSITTYFVEPSPAQDSDYVLRNMMVTGQLGLTEIHKNPPTIHRKSCIFRDFLFKCTDSSEVVLASACGETHIVVPLRERTGEALGVLDFNIGQNRMLLCQEYKDLQKMMKVVQVACYEILGEFSGEIKKKYILEIENVREVQRAGILFFRIMLLELQESIQLLNSMEFVSLLLYDHTLVTEPNSPQDSKSMELEANVKLVRDILKAVILFFHPELEFSSDFGSWDKCKFYVNKYLVNNICAFDPTAKHVEVNVQLIDEYIRDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGLQEK" }, "uniprot_id": "K7EJC3_HUMAN", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4FU69", "id": "A4FU69", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "type": "PubMed", "id": "18669648" } ], "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4FU69", "id": "A4FU69", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A4FU69", "id": "A4FU69", "database": "iPTMnet" } ], "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "date": "2008" } ], "uniprot_ac": "A4FU69", "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A4FU69", "type": "recommended", "resource": "UniProtKB", "name": "EFCAB5" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-1", "isoform_ac": "A4FU69-1", "locus": { "end_pos": 29941797, "strand": "-", "start_pos": 30108021, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000394835", "id": "ENST00000394835", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000378312", "id": "ENSP00000378312", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4FU69-1|EFCB5_HUMAN Isoform 1 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 1503, "sequence": "MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVPVKEDTNSVVEKAMDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTYKEGMEKESMKKAKLHIQFPKPHPGHEVRLSSKQFQNYIELVVSELRGNEDQVLESVVEFLMNALERSHIESLRNSARRKWLHQIQCAAETSGVSLEPVYSETFKALMQDAEAHGNKKISAHISLLEENLLLPEKGNVLLRNVACTLDDAQFVLNRVLYRDMKGISFTVVDEGKPIHVPQVQYHGNIFFWNQSRNKHDYNGSFLALPLQDAYMRIFGVLAVDTLRDPHEINIFLPHEIRFYQGVANVFSTAYHYVHSREHILHIVITGIGWLYDVTSSITSITTYFVEPSPAQDSDYVLRNMMVTGQLGLTEIHKNPPTIHRKSCIFRDFLFKCTDSSEVVLASACGETHIVVPLRERTGEALGVLDFNIGQNRMLLCQEYKDLQKMMKVVQVACYEILGEFSGEIKKKYILEIENVREVQRAGILFFRIMLLELQESIQLLNSMEFVSLLLYDHTLVTEPNSPQDSKSMELEANVKLVRDILKAVILFFHPELEFSSDFGSWDKCKFYVNKYLVNNICAFDPTAKHVEVNVQLIDEYIRDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGLQEK" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-2", "isoform_ac": "A4FU69-2", "locus": { "end_pos": 29941797, "strand": "-", "start_pos": 30073123, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000440741", "id": "ENST00000440741", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000393095", "id": "ENSP00000393095", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4FU69-2|EFCB5_HUMAN Isoform 2 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 926, "sequence": "MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVPVKEDTNSVVEKAMDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTYKEGMEKESMKKGLTLSPGWSAVAQL" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-3", "isoform_ac": "A4FU69-3", "locus": {}, "sequence": { "header": "sp|A4FU69-3|EFCB5_HUMAN Isoform 3 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 1379, "sequence": "MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVPVKEDTNSVVEKAMDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTAKLHIQFPKPHPGHEVRLSSKQFQNYIELVVSELRGNEDQVLESVVEFLMNALERSHIESLRNSARRKWLHQIQCAAETSGVSLEPVYSETFKALMQDAEAHGNKKISAHISLLEENLLLPEKGNVLLRNVACTLDDAQFVLNRVLYRDMKGISFTVVDEGKPIHVPQVQYHGNIFFWNQSRNKHDYNGSFLALPLQDAYMRIFGVLAVDTLRDPHEINIFLPHEIRFYQGVANVFSTAYHYVHSREHILHIVITGIGWLYDVTSSITSITTYFVEPSPAQDSDYVLRNMMVTGQLGLTEIHKNPPTIHRKSCIFRDFLFKCTDSSEVVLASACGETHIVVPLRERTGEALGVLDFNIGQNRMLLCQEYKDLQKMMKVVQVACYEILGEFSGEIKKKYILEIENVREVQRAGILFFRIMLLELQESIQLLNSMEFVSLLLYDHTLVTEPNSPQDSKSMELEANVKLVRDILKAVILFFHPELEFSSDFGSWDKCKFYVNKYLVNNICAFDPTAKHVEVNVQLIDEYIRDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGLQEK" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-4", "isoform_ac": "A4FU69-4", "locus": {}, "sequence": { "header": "sp|A4FU69-4|EFCB5_HUMAN Isoform 4 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 975, "sequence": "MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVPVKEDTNSVVEKAMDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTYKEGMEKESMKKDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGLQEK" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-5", "isoform_ac": "A4FU69-5", "locus": { "end_pos": 29943628, "strand": "-", "start_pos": 30073687, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000536908", "id": "ENST00000536908", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000440619", "id": "ENSP00000440619", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4FU69-5|EFCB5_HUMAN Isoform 5 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 856, "sequence": "MDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEWFNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQVSLCRQAGVQWRNCSSLQPPTPGLKRSSHHRLLSNWDYRERRKFFPLETKFP" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#A4FU69-6", "isoform_ac": "A4FU69-6", "locus": {}, "sequence": { "header": "sp|A4FU69-6|EFCB5_HUMAN Isoform 6 of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=3 CANONICAL=A4FU69-1", "length": 569, "sequence": "MEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQVSLCRQAGVQWRNCSSLQPPTPGLKRSSHHRLLSNWDYRERRKFFPLETKFP" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#C9J1E6-1", "isoform_ac": "C9J1E6-1", "locus": { "end_pos": 29943628, "strand": "-", "start_pos": 29969077, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000448319", "id": "ENST00000448319", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000400023", "id": "ENSP00000400023", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9J1E6-1|C9J1E6_HUMAN Computationally mapped isoform of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=1 CANONICAL=A4FU69-1", "length": 103, "sequence": "MDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALDETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKE" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#H0Y4M1-1", "isoform_ac": "H0Y4M1-1", "locus": { "end_pos": 29943628, "strand": "-", "start_pos": 29999933, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000423598", "id": "ENST00000423598", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000392831", "id": "ENSP00000392831", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y4M1-1|H0Y4M1_HUMAN Computationally mapped isoform of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=2 CANONICAL=A4FU69-1", "length": 56, "sequence": "MDEIKSQELNLEGQRKISPGSIKDSKTEASDSECSSRILSKSRFQAWITLQTTGYY" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#H0Y843-1", "isoform_ac": "H0Y843-1", "locus": { "end_pos": 29969183, "strand": "-", "start_pos": 30108021, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000419434", "id": "ENST00000419434", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000417009", "id": "ENSP00000417009", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y843-1|H0Y843_HUMAN Computationally mapped isoform of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=1 CANONICAL=A4FU69-1", "length": 1185, "sequence": "KKKVLTEADTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTAKLHIQFPKPHPGHEVRLSSKQFQNYIELVVSELRGNEDQVLESVVEFLMNALERSHIESLRNSARRKWLHQIQCAAETSGVSLEPVYSETFKALMQDAEAHGNKKISAHISLLEENLLLPEKGNVLLRNVACTLDDAQFVLNRVLYRDMKGISFTVVDEGKPIHVPQVQYHGNIFFWNQSRNKHDYNGSFLALPLQDAYMRIFGVLAVDTLRDPHEINIFLPHEIRFYQGVANVFSTAYHYVHSREHILHIVITGIGWLYDVTSSITSITTYFVEPSPAQDSDYVLRNMMVTGQLGLTEIHKNPPTIHRKSCIFRDFLFKCTDSSEVVLASACGETHIVVPLRERTGEALGVLDFNIGQNRMLLCQEYKDLQKMMKVVQVACYEILGEFSGEIKKKYILEIENVREVQRAGILFFRIMLLELQESIQLLNSMEFVSLLLYDHTLVTEPNSPQDSKSMELEANVKLVRDILKAVILFFHPELEFSSDFGSWDKCKFYVNKYLVNNICAFDPTAKHVEVNVQLIDEYIRDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGLQEK" } }, { "url": "https://www.uniprot.org/uniprot/A4FU69#K7EJC3-1", "isoform_ac": "K7EJC3-1", "locus": { "end_pos": 29969206, "strand": "-", "start_pos": 30108023, "chromosome": "17", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000588978", "id": "ENST00000588978", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000465109", "id": "ENSP00000465109", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EJC3-1|K7EJC3_HUMAN Computationally mapped isoform of EF-hand calcium-binding domain-containing protein 5 OS=Homo sapiens OX=9606 GN=EFCAB5 PE=1 SV=1 CANONICAL=A4FU69-1", "length": 774, "sequence": "XDTPSKFDPINYLGEYLIRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDKIIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDITDSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAELFLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGDMDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQQRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVAEQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKSTKYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQKDKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQSCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMNALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTYKEGMEKESMKKDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAKMPGEGLQEK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:374786", "resource": "KEGG Pathway", "id": "hsa:374786", "name": "" } ], "reaction_participants": [], "function": [], "orthologs": [ { "uniprot_canonical_ac": "A0JP43-1", "protein_name": "EF-hand calcium-binding domain-containing protein 5", "sequence": { "length": 1406, "sequence": "MLMQVEKKKLLSQADIPTKFDPINYLGEYLMRHNTHYIKDPGVSGYQRVMKEITEELKTHVPDTINNRISKMKEKVKEKREQREYISTVKVKVAGMRKQALEEQFNEWVLNPKGMIPIVVYISSYITDLKSEVFEEFLKHLCHSAEEFREIILTDMRRQMFAELFLQCDSGKVMALDRQRTLALLEAFYDQCSSTTRSLLRNPRQWPFVEFEEIELIEFWGDMDIKKHIYEDFDALLLKMNMLVAEKLAGKLAENKDLPQQQRDQELSSDSTTEPETATQLTSQQRSRRVSLTGQGQGKGPRKTSASKQGASRGSVAEQGSRRSSGVNQTQQRGSVAEQGSRRSSAVEQTQQRGSVAEQGSRRSSTVEQTRQRGSVAEQGSRRSSTVEQTQRRGSVAEQGSRRSSGVNQTQQRGSVAEQGSRRSSAVEQTQQRGSVAEQGSRRSSAMEQEPQTAQDPNSDSLPEQESHRGSITEGSHRGSISEPGQRRASVTGQRRKSSVDDSGSAGSRRGSGTDQGQHRGSVGQRKGSGERKMSASEYGPHQESITEEPLTASEPGPQIDTIQELDEDSTPQLEDDSALKESKTSELTKIETQEEKPLLLINEEQVPRDSKQPEVPTSSKKERPSGSPKKGRLSGTSKRDSQKDKACEPKPQHVEGKKWSGEFLICDWKIKHVKSEEEEQAKLICDDTRFTDLHATIRNFQTYKGIKGRSAFNGVSLDLLQFVQLLETFVGEDTSFSLSKDLASFFQKNYSETKQEKIKALEQARQNSSRIRRRILLQAIFEKWDNDGSGFLDLNEVDDLLYTYKEGMERESMKKAKLHINFPEPSPGHEVKLSSKQFQRYIELVVSELRGNEDEVLESVVEFLMGSLERSHVEGLRNCARRKWLHQIQYAAETSGVSLEPVYTETFRVLTQDAEAHGNKKISAHISLLEENVFLPERGHVLLRNVACTLDDAPFVLNKVLYRDMKGISFTVVDEGKPIHVPQVQHHGNIFFWNSFRSKNEYNGSFLALPLQDAYMRIFGVLAVDTLRDPHEINIFLPHEIKFYQGVANAFSTAYHHVHSREHVLHSVMTGIRWLFSVTSGITTITTCFIEPSSEQEDYVLRNMMVTDCLGLAEIHTDPPTITRNACIFRDFLFKCTDTSEVILASSGGETHIAIPLRQRTKEAMGILDVNIGRSRMLLYQEYKDLQKMVKMIQNVSYEILGEFSGEIEKTMVIEMESAGEVKRAGILFFRTMLQELQECLCLLDSMDFVSLLLYEHKYHVDSILQDITLQEVEANVALVHDVLKGVILFSQREKDSLSDLEEWEKWKFHINKYLVEEICVLDPTASNVEVNVELVTSYIQAHSRTEVWNFRNIVIELLYHWINICLTLIELNMRQDVSIIPPLPKKSATSIYAISSERSIREKL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/63366", "id": "63366", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Efcab5", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "A", "start_pos": 100, "alt_nt": "T", "chr_id": "17", "subjects_positive": "1", "chr_pos": "28295916", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4FU69", "id": "A4FU69", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 100, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "S", "start_pos": 1149, "alt_nt": "A", "chr_id": "17", "subjects_positive": "1", "chr_pos": "28409929", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4FU69", "id": "A4FU69", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1149, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "Y", "start_pos": 1173, "alt_nt": "C", "chr_id": "17", "subjects_positive": "1", "chr_pos": "28409999", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4FU69", "id": "A4FU69", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "H", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1173, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "cancer of uterine cervix", "id": "MONDO:0002974" }, { "url": "https://www.omim.org/entry/603956", "resource": "MIM", "description": "Cervical cancer", "name": "Cervical cancer", "id": "MIM:603956" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the cervix.", "name": "cervical cancer", "id": "DOID:4362" } }, { "disease_id": "DOID:10534", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric neoplasm", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric cancer", "id": "DOID:10534" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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