{ "uniprot_canonical_ac": "A4D0V7-1", "sequence": { "header": "sp|A4D0V7-1|CPED1_HUMAN Isoform 1 of Cadherin-like and PC-esterase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CPED1 PE=2 SV=1 CANONICAL=A4D0V7-1", "length": 1026, "sequence": "MVCRPVFPCRRRFCPRPFLVGLVVAICLFYQTLTLRGSRKLTAAAPGAVPHTSTETQASRCKKGFSQDKQCFLLSGNAQETRKVKESMETHFGSHGRRAILYRPPFYSKTELQLHQHILTQHGYTVVIAEERLNAGLGPGLLEQGDLGSWDLLICLSSKKAEGTPCISKEVMCQLGLHQKANRLPEIQQPLCRKEGLCQIVRRFPELQLPVSPSVCLDQGMQLKPSTSSHLLKTVKPRVWKPGDWSREQLNETTVLAPHETIFRAEDLSVILKAYVLVTSLTPLRAFIHSTGTVWNPPKKKRFTVKLQTFFETFLRASSPQQAFDIMKEAIGKLLLAAEVFSETSTLGPKTFHRCRFCFQLLTFDIGYGSFMYPVVLQVHEHLNFQDYDNMDFEDQNTEEFLLNDTFNFLFPNESSLSIFSEIFQRLYRSDVFKGENYQKELNQCLSLEEINSIMTFIKELGSLGQFQLLFPSTTPGIQSLMHEFYDVANPVGNPGSVLTQYWSLLNVFEQFQFMNKKTQPHPLEWNSFTEDKNIEKPQVPFDAIENKKAAVPQIKNENKEIHCSDDENTPCHIKQIFTHPHLELNPDFHPKIKDYYCEVPFDVVTVTIGVETPKCLCKVHLYEQAGPSFASYPLGLGMNKISIFVVDESPAHGETLITYKLTIYREDRPSLPLFEAFTACGFVQDCGLLIHPEETCGLQPISSDYIEAILQSELKRCPSGDMKGQWIVPCLSCSDNRTCDWREITWQPHNCQYGVLTKPQLQQCLGGRKILFIGDSTNRGIMYYLIERLNETLQEWQKVHGTKFYHNVNGGKTLISYSYYPQFWISPSLRPTFENALEHLLQRSRPLENTGQTVLVVGGVQWLNSNHLQIIHKVLKRENLLNILVIIKTLGIGFHLPVDGVHFLTQSEVQNLWKENLIILDTAKKHGYEVVDTFTITMGRYKEFLQGKCGCHFHEVVKSKLSKEYNFIKMKRSRNHIMGRYFSNQSKLQQGTVTNFRSPYHVRGPINQVCSEILLSRMCANKRTM" }, "uniprot_id": "CPED1_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "cadherin-like and PC-esterase domain-containing protein 1 isoform 2 precursor", "cadherin-like and PC-esterase domain-containing protein 1" ], "uniprotkb": [ "Cadherin-like and PC-esterase domain-containing protein 1" ] }, "gene": { "refseq": [ "CPED1", "C7orf58" ], "uniprotkb": [ "CPED1", "C7orf58", "PRO34713" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0V7", "id": "A4D0V7", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Cadherin-like and PC-esterase domain-containing protein 1." }, "publication": [ { "title": "Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24945404", "journal": "PLoS genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099003.1", "id": "NP_001099003.1", "database": "RefSeq" } ], "authors": "Kemp JP, Medina-Gomez C, Estrada K, St Pourcain B, Heppe DH, Warrington NM, Oei L, Ring SM, Kruithof CJ, Timpson NJ, Wolber LE, Reppe S, Gautvik K, Grundberg E, Ge B, van der Eerden B, van de Peppel J, Hibbs MA, Ackert-Bicknell CL, Choi K, Koller DL, Econs MJ, Williams FM, Foroud T, Zillikens MC, Ohlsson C, Hofman A, Uitterlinden AG, Davey Smith G, Jaddoe VW, Tobias JH, Rivadeneira F, Evans DM", "date": "2014", "pmid": "24945404" }, { "title": "A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20082467", "journal": "American journal of medical genetics. Part A", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099003.1", "id": "NP_001099003.1", "database": "RefSeq" } ], "authors": "Dauwerse JG, Ruivenkamp CA, Hansson K, Marijnissen GM, Peters DJ, Breuning MH, Hilhorst-Hofstee Y", "date": "2010", "pmid": "20082467" }, { "title": "Novel eukaryotic enzymes modifying cell-surface biopolymers.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20056006", "journal": "Biology direct", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099003.1", "id": "NP_001099003.1", "database": "RefSeq" } ], "authors": "Anantharaman V, Aravind L", "date": "2010", "pmid": "20056006" }, { "title": "Association of regions on chromosomes 6 and 7 with blood pressure in Nigerian families.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/20031566", "journal": "Circulation. Cardiovascular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099003.1", "id": "NP_001099003.1", "database": "RefSeq" } ], "authors": "Tayo BO, Luke A, Zhu X, Adeyemo A, Cooper RS", "date": "2009", "pmid": "20031566" }, { "title": "Transcriptome analysis of human gastric cancer.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16341674", "journal": "Mammalian genome : official journal of the International Mammalian Genome Society", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099003.1", "id": "NP_001099003.1", "database": "RefSeq" } ], "authors": "Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS", "date": "2005", "pmid": "16341674" }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/12975309", "journal": "Genome Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0V7/publications", "id": "A4D0V7", "database": "UniProtKB" } ], "authors": "Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Clark H.F., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Goddard A.D., Godowski P.J., Gray A.M., Grimaldi C., Gu Q., Gurney A.L., Hass P.E., Heldens S., Huang A., Jin Y., Johnson S., Kim H.S., Klimowski L., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Wood W.I., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Xie M.H., Goddard A., Foster J., Mark M., Gray A., Vandlen R., Yansura D., Baldwin D., Godowski P.", "date": "2003", "pmid": "12975309" } ], "glycosylation": [ { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0V7", "id": "A4D0V7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ], "relation": "attached", "position": 791, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0V7", "id": "A4D0V7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ], "relation": "attached", "position": 985, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0V7", "id": "A4D0V7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ], "relation": "attached", "position": 404, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0V7", "id": "A4D0V7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ], "relation": "attached", "position": 413, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0V7", "id": "A4D0V7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ], "relation": "attached", "position": 737, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0V7", "id": "A4D0V7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ], "relation": "attached", "position": 251, "glytoucan_ac": "", "type": "N-linked" } ], "mutation": [ { "start_pos": 873, "subjects_positive": "18", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0V7", "id": "A4D0V7", "database": "BioMuta" } ], "frequency": "2.7", "annotation": "Filters passed (3/5): patient freq. (2.7%); patient count (18/678); num. of cancers (4).", "sequence_org": "H", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "P", "subjects_tested": "678", "end_pos": 873, "type": "Point mutation" }, { "start_pos": 947, "subjects_positive": "33", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0V7", "id": "A4D0V7", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (2/5): patient freq. (1.5%); patient count (33/2203).", "sequence_org": "Q", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "K", "subjects_tested": "2203", "end_pos": 947, "type": "Point mutation" }, { "start_pos": 1002, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0V7", "id": "A4D0V7", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). 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(1.0%). In dbSNP: rs200465145.", "sequence_org": "S", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "L", "subjects_tested": "103", "end_pos": 228, "type": "Point mutation" }, { "start_pos": 527, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0V7", "id": "A4D0V7", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "N", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "S", "subjects_tested": "103", "end_pos": 527, "type": "Point mutation" }, { "start_pos": 186, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0V7", "id": "A4D0V7", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "E", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "D", "subjects_tested": "93", "end_pos": 186, "type": "Point mutation" }, { "start_pos": 735, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0V7", "id": "A4D0V7", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (4).", "sequence_org": "S", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "L", "subjects_tested": "742", "end_pos": 735, "type": "Point mutation" }, { "start_pos": 355, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0V7", "id": "A4D0V7", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "C", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 355, "type": "Point mutation" }, { "start_pos": 290, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0V7", "id": "A4D0V7", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs772467238.", "sequence_org": "S", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "L", "subjects_tested": "742", "end_pos": 290, "type": "Point mutation" }, { "start_pos": 1002, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0V7", "id": "A4D0V7", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs147434701.", "sequence_org": "H", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "Y", "subjects_tested": "1514", "end_pos": 1002, "type": "Point mutation" }, { "start_pos": 283, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0V7", "id": "A4D0V7", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "P", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "R", "subjects_tested": "66", "end_pos": 283, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D0V7#A4D0V7-2", "isoform_ac": "A4D0V7-2", "locus": { "end_pos": 120989622, "start_pos": 121261670, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000450913", "id": "ENST00000450913", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000406122", "id": "ENSP00000406122", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D0V7-2|CPED1_HUMAN Isoform 2 of Cadherin-like and PC-esterase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CPED1 PE=2 SV=1 CANONICAL=A4D0V7-1", "length": 783, "sequence": "MVCRPVFPCRRRFCPRPFLVGLVVAICLFYQTLTLRGSRKLTAAAPGAVPHTSTETQASRCKKGFSQDKQCFLLSGNAQETRKVKESMETHFGSHGRRAILYRPPFYSKTELQLHQHILTQHGYTVVIAEERLNAGLGPGLLEQGDLGSWDLLICLSSKKAEGTPCISKEVMCQLGLHQKANRLPEIQQPLCRKEGLCQIVRRFPELQLPVSPSVCLDQGMQLKPSTSSHLLKTVKPRVWKPGDWSREQLNETTVLAPHETIFRAEDLSVILKAYVLVTSLTPLRAFIHSTGTVWNPPKKKRFTVKLQTFFETFLRASSPQQAFDIMKEAIGKLLLAAEVFSETSTLGPKTFHRCRFCFQLLTFDIGYGSFMYPVVLQVHEHLNFQDYDNMDFEDQNTEEFLLNDTFNFLFPNESSLSIFSEIFQRLYRSDVFKGENYQKELNQCLSLEEINSIMTFIKELGSLGQFQLLFPSTTPGIQSLMHEFYDVANPVGNPGSVLTQYWSLLNVFEQFQFMNKKTQPHPLEWNSFTEDKNIEKPQVPFDAIENKKAAVPQIKNENKEIHCSDDENTPCHIKQIFTHPHLELNPDFHPKIKDYYCEVPFDVVTVTIGVETPKCLCKVHLYEQAGPSFASYPLGLGMNKISIFVVDESPAHGETLITYKLTIYREDRPSLPLFEAFTACGFVQDCGLLIHPEETCGLQPISSDYIEAILQSELKRCPSGDMKGQWIVPCLSCSDNRTCDWREITWQPHNCQYGVLTKPQLQQCLGGRKLGVDVQRVPRSRN" } }, { "url": "https://www.uniprot.org/uniprot/A4D0V7#G5E9U2-1", "isoform_ac": "G5E9U2-1", "locus": { "end_pos": 121097743, "start_pos": 121261670, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000423795", "id": "ENST00000423795", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000415573", "id": "ENSP00000415573", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|G5E9U2-1|CPED1_HUMAN Computationally mapped isoform of Cadherin-like and PC-esterase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CPED1 PE=2 SV=1 CANONICAL=A4D0V7-1", "length": 563, "sequence": "MQLKPSTSSHLLKTVKPRVWKPGDWSREQLNETTVLAPHETIFRAEDLSVILKAYVLVTSLTPLRAFIHSTGTVWNPPKKKRFTVKLQTFFETFLRASSPQQAFDIMKEAIGKLLLAAEVFSETSTLGPKTFHRCRFCFQLLTFDIGYGSFMYPVVLQVHEHLNFQDYDNMDFEDQNTEEFLLNDTFNFLFPNESSLSIFSEIFQRLYRSDVFKGENYQKELNQCLSLEEINSIMTFIKELGSLGQFQLLFPSTTPGIQSLMHEFYDVANPVGNPGSVLTQYWSLLNVFEQFQFMNKKTQPHPLEWNSFTEDKNIEKPQVPFDAIENKKAAVPQIKNENKEIHCSDDENTPCHIKQIFTHPHLELNPDFHPKIKDYYCEVPFDVVTVTIGVETPKCLCKVHLYEQAGPSFASYPLGLGMNKISIFVVDESPAHGETLITYKLTIYREDRPSLPLFEAFTACGFVQDCGLLIHPEETCGLQPISSDYIEAILQSELKRCPSGDMKGQWIVPCLSCSDNRTCDWREITWQPHNCQYGVLTKPQLQQCLGGRKLGVDVQRVPRSRN" } }, { "url": "https://www.uniprot.org/uniprot/A4D0V7#A4D0V7-1", "isoform_ac": "A4D0V7-1", "locus": { "end_pos": 120989622, "start_pos": 121295649, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000310396", "id": "ENST00000310396", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000309772", "id": "ENSP00000309772", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D0V7-1|CPED1_HUMAN Isoform 1 of Cadherin-like and PC-esterase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CPED1 PE=2 SV=1 CANONICAL=A4D0V7-1", "length": 1026, "sequence": "MVCRPVFPCRRRFCPRPFLVGLVVAICLFYQTLTLRGSRKLTAAAPGAVPHTSTETQASRCKKGFSQDKQCFLLSGNAQETRKVKESMETHFGSHGRRAILYRPPFYSKTELQLHQHILTQHGYTVVIAEERLNAGLGPGLLEQGDLGSWDLLICLSSKKAEGTPCISKEVMCQLGLHQKANRLPEIQQPLCRKEGLCQIVRRFPELQLPVSPSVCLDQGMQLKPSTSSHLLKTVKPRVWKPGDWSREQLNETTVLAPHETIFRAEDLSVILKAYVLVTSLTPLRAFIHSTGTVWNPPKKKRFTVKLQTFFETFLRASSPQQAFDIMKEAIGKLLLAAEVFSETSTLGPKTFHRCRFCFQLLTFDIGYGSFMYPVVLQVHEHLNFQDYDNMDFEDQNTEEFLLNDTFNFLFPNESSLSIFSEIFQRLYRSDVFKGENYQKELNQCLSLEEINSIMTFIKELGSLGQFQLLFPSTTPGIQSLMHEFYDVANPVGNPGSVLTQYWSLLNVFEQFQFMNKKTQPHPLEWNSFTEDKNIEKPQVPFDAIENKKAAVPQIKNENKEIHCSDDENTPCHIKQIFTHPHLELNPDFHPKIKDYYCEVPFDVVTVTIGVETPKCLCKVHLYEQAGPSFASYPLGLGMNKISIFVVDESPAHGETLITYKLTIYREDRPSLPLFEAFTACGFVQDCGLLIHPEETCGLQPISSDYIEAILQSELKRCPSGDMKGQWIVPCLSCSDNRTCDWREITWQPHNCQYGVLTKPQLQQCLGGRKILFIGDSTNRGIMYYLIERLNETLQEWQKVHGTKFYHNVNGGKTLISYSYYPQFWISPSLRPTFENALEHLLQRSRPLENTGQTVLVVGGVQWLNSNHLQIIHKVLKRENLLNILVIIKTLGIGFHLPVDGVHFLTQSEVQNLWKENLIILDTAKKHGYEVVDTFTITMGRYKEFLQGKCGCHFHEVVKSKLSKEYNFIKMKRSRNHIMGRYFSNQSKLQQGTVTNFRSPYHVRGPINQVCSEILLSRMCANKRTM" } }, { "url": "https://www.uniprot.org/uniprot/A4D0V7#Q5MJQ4-1", "isoform_ac": "Q5MJQ4-1", "locus": { "end_pos": 120989622, "start_pos": 121050865, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000340646", "id": "ENST00000340646", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000345235", "id": "ENSP00000345235", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|Q5MJQ4-1|CPED1_HUMAN Computationally mapped isoform of Cadherin-like and PC-esterase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CPED1 PE=2 SV=1 CANONICAL=A4D0V7-1", "length": 202, "sequence": "MVCRPVFPCRRRFCPRPFLVGLVVAICLFYQTLTLRGSRKLTAAAPGAVPHTSTETQASRCKKGFSQDKQCFLLSGNAQETRKVKESMETHFGSHGRRAILYRPPFYSKTELQLHQHILTQHGYTVVIAEERLNAGLGPGLLEQGDLGSWDLLICLSSKKAEGTPCISKEVMCQLGLHQKQLRRREERQRPGSPASRRLSVR" } }, { "url": "https://www.uniprot.org/uniprot/A4D0V7#E9PCC8-1", "isoform_ac": "E9PCC8-1", "locus": { "end_pos": 121097743, "start_pos": 121136053, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000443817", "id": "ENST00000443817", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000391952", "id": "ENSP00000391952", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PCC8-1|CPED1_HUMAN Computationally mapped isoform of Cadherin-like and PC-esterase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CPED1 PE=2 SV=1 CANONICAL=A4D0V7-1", "length": 334, "sequence": "MQLKPSTSSHLLKTVKPRVWKPGDWSREQLNETTVLAPHETIFRAEDLSVILKAYVLVTSLTPLRAFIHSTGTVWNPPKKKRFTVKLQTFFETFLRASSPQQAFDIMKEAIGKLLLAAEVFSETSTLGPKTFHRCRFCFQLLTFDIGYGSFMYPVVLQVHEHLNFQDYDNMDFEDQNTEEFLLNDTFNFLFPNESSLSIFSEIFQRLYRSDVFKGENYQKELNQCLSLEEINSIMTFIKELGSLGQFQLLFPSTTPGIQSLMHEFYDVANPVGNPGSVLTQYWSLLNVFEQFQFMNKKTQPHPLEWNSFTEDKNIEKPQVPFDAIENKKAAVPQ" } }, { "url": "https://www.uniprot.org/uniprot/A4D0V7#E7ENG7-1", "isoform_ac": "E7ENG7-1", "locus": { "end_pos": 120989622, "start_pos": 121133892, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000428526", "id": "ENST00000428526", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000398082", "id": "ENSP00000398082", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E7ENG7-1|CPED1_HUMAN Computationally mapped isoform of Cadherin-like and PC-esterase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CPED1 PE=2 SV=1 CANONICAL=A4D0V7-1", "length": 549, "sequence": "MVCRPVFPCRRRFCPRPFLVGLVVAICLFYQTLTLRGSRKLTAAAPGAVPHTSTETQASRCKKGFSQDKQCFLLSGNAQETRKVKESMETHFGSHGRRAILYRPPFYSKTELQLHQHILTQHGYTVVIAEERLNAGLGPGLLEQGDLGSWDLLICLSSKKAEGTPCISKEVMCQLGLHQKANRLPEIQQPLCRKEGLCQIVRRFPELQLPVSPSVCLDQGMQLKPSTSSHLLKTVKPRVWKPGDWSREQLNETTVLAPHETIFRAEDLSVILKAYVLVTSLTPLRAFIHSTGTVWNPPKKKRFTVKLQTFFETFLRASSPQQAFDIMKEAIGKLLLAAEVFSETSTLGPKTFHRCRFCFQLLTFDIGYGSFMYPVVLQVHEHLNFQDYDNMDFEDQNTEEFLLNDTFNFLFPNESSLSIFSEIFQRLYRSDVFKGENYQKELNQCLSLEEINSIMTFIKELGSLGQFQLLFPSTTPGIQSLMHEFYDVANPVGNPGSVLTQYWSLLNVFEQFQFMNKKTQPHPLEWNSFTEDKNIEKPQVPFDAIENKK" } }, { "url": "https://www.uniprot.org/uniprot/A4D0V7#H0YB19-1", "isoform_ac": "H0YB19-1", "locus": { "end_pos": 120989799, "start_pos": 120994008, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000520801", "id": "ENST00000520801", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428504", "id": "ENSP00000428504", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YB19-1|CPED1_HUMAN Computationally mapped isoform of Cadherin-like and PC-esterase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=CPED1 PE=2 SV=1 CANONICAL=A4D0V7-1", "length": 60, "sequence": "RCKKGFSQDKQCFLLSGNAQETRKVEFFGFSGQPLEKLAPGWGSSCRCKGEVDSPFQSVL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:79974", "resource": "KEGG Pathway", "id": "hsa:79974", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099003.1", "annotation": "Variants at the CPED1 locus were strongly associated with bone mineral density at the skull and upper limb sites, but not with lower limb-bone mineral density. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099003.1", "id": "NP_001099003.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099003.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099003.1", "id": "NP_001099003.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "B2RX70-1", "protein_name": "Cadherin-like and PC-esterase domain-containing 1.", "sequence": { "length": 1026, "sequence": "MVCRPGFLCRRRFCPRPFLVGLVVAICLFYQTLTLRGTKKIAADVSGTVPHTPSQTQASRCEEGYRQDKQCFLLSASTQETRKIEESIERHFGSLSRRAVLHRPPSSSRAQLQIHQHLLAQHGYSVVTVEERLGGGLGPELLDQGGLNSWDLFICLPSREADGKPCIPREHMCRLSLHQRVNVLPEIQPQLCRREGLCEITRRFPEFRLPVSSSVCLDQETQSRLRVSSHLSKAEKPHVWKPRDWHRKQLNLTTVVAPHEAISRAEELSVILKAYVLVTSLRPLRAFIHSTGTVWSPPKKKRFTVKLQMFFETFLRTSSPLQALDSMKEAISKLLLVAEVFSDASTLGPKTFNRCIQCFQLLTFDVGYGDSGYPVVLQVHEHLHFHDDENFSAEDQNAENIILRDTFDFLFSNASSLSMVSEMLQRRDSAGAFVDGNYEKELNQCLSFEEIHSIRTFVKELGSLGQFQLLFPSSVPGIRSLMGEFYDMATPGSVLSQYWSLLNVFEQFWLMNKKAQLQPLEWNSPTRNETIEEPPRSLEGIQSGKDAAPRVLFENKDIHCSDEEDVLCHIKKIITHPRLELSPEFNPKIKEYYCEVPFDVLTVRIGAETSKCQCKAHLQEQAGPSFATYPLGIGMNRISVLVVDESHAGGAALTTYKLTIYREDRPSLPFFEDFTACGFVQDCDLLIHPEETCGLQPISAEYIKAISQPEIESCPSGDTKGQWIVPCLTCSDNRTCDWREITWQPHNCQHNILTKPELQQCLQGRKILFIGDSTNRGMMYYLIERLNETLQEWQKLHGTKLYPSVNGGKSPISYSYYPQFWIRPSLRPAFEKALEHLLQRSQPLENTDQTVLVVGGVQWLNSNHLQIIHKVLKRENLLNILVIIKTLGIGFHLPVDGVHFLTQGEVRNLYKENLSILETAKKYGYEVVDTFTITMGRHKEFLQGNCGCHFHEVVKSKLSRQHHVIKMKRSKNHIVGKYFSSQSKLKQHNSVPNLHSPYHVRGPINQVCAEILLSRMCASQRSAQAP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/57014", "id": "57014", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "A0A0G2QC10-1", "protein_name": "Cadherin-like and PC-esterase domain-containing 1.", "sequence": { "length": 1018, "sequence": "MVCRPGFLCRRRFCPRPFLVGLVVAICLFYQTLTLRGTKKIAAEVSGTVPHTPSQTQGSRCEKDYPQDKRCFLLSANAQEIRKIEELIERHFGGRSRRAVLHRPPSSSGAELQTHQNLLAQHGYSVVTVEERLGGNPGLELLDQGGLNSWDLFICLPSREADGKPCIPREHMCRLSLHQRVNVLPEIQPQLCRKEGLCEIIRRFPELRLPVSSSVCLGQGTQSRLSVSSHLSKAEKPRIWKPWNWQREQLNQTTLVAPREAIFRAEELSVILKAYVLVTSLRPLRAFIHSTGTVWSPPKKKRFTVKLQMFFETFLRTSSPLQALDSLKEAISKLLLVAEVFSDSSTLGPKTFHRCRHCFQLMTFDIGYGDPGNPVVLQVHERLKFHDDENLHVEDQNTERILLRDTFDFLFSNASSLPVVSEMLQRPERAGASVDGKYQKELNQCLSLEEIHSIRTFVKELGNLGQFQLLFPSTVPGIQSLMGEFYDTATPGSVLSHYWSLLNVFEQFWLVNKKAQLHSLEWNSSTRNQTVEKPHRSLEAIQSKKAAVPQVLYEDKDKHCSDEEEAQCQIKKIVTYPRLELSPEFNAKIKDYYCEVPFDVLTVRIRAETSKCQCKVHLQEQTGPSFANYPLGLGMNRISMLVVDESRAEGDALTTYKLTIYREDRPSLPFFEDFTACGFVQDCDLLIHPEETCGLQPISADYIETISQPEIQSCQSGDTKGQWIVPCLTCSDNRTCDWREITWQPHNCQHDILSKPELQQCLQGRKILFIGDSTNRGMMYYLIERLNETLQEWQKLHGTKLYPSVNGGKTLISYSYYPQFWISPSLRPAFEKALERLLQRSQPLENTDQTVLVVGGVQWLNSNHLQIIHKVLKRENLQNILVIIKTLGIGFHLPVDGVHFLTQSEVRNLYKENLSILEAAKKYGYEVVDTFTITMGRHKEFLQGNCGCHFHEVVKSKFARPHHVIKMKRSKNHIVGKYFSSQSKLKQHNSAPNVHSPYHVRGPINQFQVEAQSYTEIT" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4D0V7/", "id": "A4D0V7", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099003.1", "ac": "NP_001099003.1", "name": "cadherin-like and PC-esterase domain-containing protein 1 isoform 2 precursor; cadherin-like and PC-esterase domain-containing protein 1.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0V7", "id": "A4D0V7", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" } ], "total": 1, "name": "Cellular Component" } ] }, "site_annotation": [ { "end_pos": 253, "annotation": "n_glycosylation_sequon", "start_pos": 251 }, { "end_pos": 406, "annotation": "n_glycosylation_sequon", "start_pos": 404 }, { "end_pos": 415, "annotation": "n_glycosylation_sequon", "start_pos": 413 }, { "end_pos": 739, "annotation": "n_glycosylation_sequon", "start_pos": 737 }, { "end_pos": 793, "annotation": "n_glycosylation_sequon", "start_pos": 791 }, { "end_pos": 987, "annotation": "n_glycosylation_sequon", "start_pos": 985 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099003.1", "id": "NP_001099003.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26159", "id": "26159", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A4D0V7", "id": "A4D0V7", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A4D0V7", "id": "NX_A4D0V7", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CPED1", "id": "CPED1", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:79974", "id": "hsa:79974", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106034", "id": "ENSG00000106034", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/HRCRLCF/", "id": "HRCRLCF", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR025883", "id": "IPR025883", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF12733", "id": "PF12733", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A4D0V7", "id": "PR_A4D0V7", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A4D0V7*", "id": "A4D0V7", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/79974", "id": "79974", "database": "GeneID" } ], "expression_disease": [], "uniprot_ac": "A4D0V7", "disease": [], "mass": { "monoisotopic_mass": 117491.0, "chemical_mass": 117491.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106034", "id": "ENSG00000106034", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106034", "id": "ENSG00000106034", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106034", "id": "ENSG00000106034", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106034", "id": "ENSG00000106034", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": 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"database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106034", "id": "ENSG00000106034", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106034", "id": "ENSG00000106034", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106034", "id": "ENSG00000106034", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": 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