{ "uniprot_canonical_ac": "A0MZ66-1", "ptm_annotation": [ { "annotation": "Phosphorylated on Ser-101 and Ser-249 by PAK1 through a CDC42- and RAC1-dependent signaling pathway, which enhances its association with F-actin retrograde flow in filopodia and lamellipodia of axonal growth cones. Phosphorylation on Ser-101 and Ser-249 is increased by netrin-1.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/A0MZ67", "id": "A0MZ67", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A0MZ66-1|SHOT1_HUMAN Isoform 1 of Shootin-1 OS=Homo sapiens OX=9606 GN=SHTN1 PE=1 SV=4 CANONICAL=A0MZ66-1", "length": 631, "sequence": "MNSSDEEKQLQLITSLKEQAIGEYEDLRAENQKTKEKCDKIRQERDEAVKKLEEFQKISHMVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINIDDEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVNKVKQEKTVLNSEVLEQRKVLEKCNRVSMLAVEEYEEMQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQKVKELEEQLENETLHKEIHNLKQQLELLEEDKKELELKYQNSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPPPLPPPPPNPIRSLMSMIRKRSHPSGSGAKKEKATQPETTEEVTDLKRQAVEEMMDRIKKGVHLRPVNQTARPKTKPESSKGCESAVDELKGILGTLNKSTSSRSLKSLDPENSETELERILRRRKVTAEADSSSPTGILATSESKSMPVLGSVSSVTKTALNKKTLEAEFNSPSPPTPEPGEGPRKLEGCTSSKVTFQPPSSIGCRKKYIDGEKQAEPVVVLDPVSTHEPQTKDQVAEKDPTQHKEDEGEIQPENKEDSIENVRETDSSNC" }, "uniprot_id": "SHOT1_HUMAN", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16385451", "type": "PubMed", "id": "16385451" } ], "title": "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ], "authors": "Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16964243", "type": "PubMed", "id": "16964243" } ], "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nat. Biotechnol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" } ], "authors": "Beausoleil S.A., Gerber S.A., Gygi S.P., Rush J., Villen J.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17030985", "type": "PubMed", "id": "17030985" } ], "title": "Shootin1: a protein involved in the organization of an asymmetric signal for neuronal polarization.", "journal": "J. Cell Biol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ], "authors": "Inagaki N., Roepstorff P., Shimada T., Toriyama M., Nomura E., Katsuta K., Kim K.B., Mitsuba M., Sakumura Y.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18519736", "type": "PubMed", "id": "18519736" } ], "title": "Shootin1 interacts with actin retrograde flow and L1-CAM to promote axon outgrowth.", "journal": "The Journal of cell biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ], "authors": "Shimada T, Toriyama M, Uemura K, Kamiguchi H, Sugiura T, Watanabe N, Inagaki N", "date": "2008" }, { "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/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" } ], "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "type": "PubMed", "id": "19690332" } ], "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" } ], "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20023658", "type": "PubMed", "id": "20023658" } ], "title": "Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ], "authors": "Mangold E, Ludwig KU, Birnbaum S, Baluardo C, Ferrian M, Herms S, Reutter H, de Assis NA, Chawa TA, Mattheisen M, Steffens M, Barth S, Kluck N, Paul A, Becker J, Lauster C, Schmidt G, Braumann B, Scheer M, Reich RH, Hemprich A, Potzsch S, Blaumeiser B, Moebus S, Krawczak M, Schreiber S, Meitinger T, Wichmann HE, Steegers-Theunissen RP, Kramer FJ, Cichon S, Propping P, Wienker TF, Knapp M, Rubini M, Mossey PA, Hoffmann P, Nothen MM", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "type": "PubMed", "id": "20068231" } ], "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" } ], "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21406692", "type": "PubMed", "id": "21406692" } ], "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" } ], "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "type": "PubMed", "id": "23186163" } ], "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" } ], "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23301498", "type": "PubMed", "id": "23301498" } ], "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "evidence": [ { "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0MZ66", "id": "A0MZ66", "database": "O-GlcNAc Database" } ], "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23864681", "type": "PubMed", "id": "23864681" } ], "title": "Shootin1 acts in concert with KIF20B to promote polarization of migrating neurons.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ], "authors": "Sapir T, Levy T, Sakakibara A, Rabinkov A, Miyata T, Reiner O", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "type": "PubMed", "id": "24275569" } ], "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" } ], "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25468996", "type": "PubMed", "id": "25468996" } ], "title": "E-cadherin interactome complexity and robustness resolved by quantitative proteomics.", "journal": "Science signaling", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ], "authors": "Guo Z, Neilson LJ, Zhong H, Murray PS, Zanivan S, Zaidel-Bar R", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26261183", "type": "PubMed", "id": "26261183" } ], "title": "Shootin1-cortactin interaction mediates signal-force transduction for axon outgrowth.", "journal": "The Journal of cell biology", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" } ], "authors": "Kubo Y, Baba K, Toriyama M, Minegishi T, Sugiura T, Kozawa S, Ikeda K, Inagaki N", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26293343", "type": "PubMed", "id": "26293343" } ], "title": "Rnaset2 inhibits melanocyte outgrowth possibly through interacting with shootin1.", "journal": "Journal of dermatological science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ], "authors": "Wang Q, Wang X, Le Y, Jiang M, Wu J, Tao L, Kang Y, Xiang L", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27177867", "type": "PubMed", "id": "27177867" } ], "title": "Identification of a shootin1 isoform expressed in peripheral tissues.", "journal": "Cell and tissue research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ], "authors": "Higashiguchi Y, Katsuta K, Minegishi T, Yonemura S, Urasaki A, Inagaki N", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28510447", "type": "PubMed", "id": "28510447" } ], "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "evidence": [ { "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0MZ66", "id": "A0MZ66", "database": "O-GlcNAc Database" } ], "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30411541", "type": "PubMed", "id": "30411541" } ], "title": "Associations of genetic variants in endocytic trafficking of epidermal growth factor receptor super pathway with risk of nonsyndromic cleft lip with or without cleft palate.", "journal": "Molecular genetics & genomic medicine", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ], "authors": "Li B, Ma L, Zhang C, Zhou Z, Yuan H, Jiang H, Pan Y, Tan Q", "date": "2018" } ], "uniprot_ac": "A0MZ66", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0MZ66", "type": "synonym", "resource": "RefSeq", "name": "KIAA1598; shootin-1" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66", "type": "synonym", "resource": "UniProtKB", "name": "KIAA1598" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0MZ66", "type": "synonym", "resource": "RefSeq", "name": "SHTN1" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66", "type": "recommended", "resource": "UniProtKB", "name": "SHTN1" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66#A0MZ66-1", "isoform_ac": "A0MZ66-1", "locus": { "end_pos": 116886347, "strand": "+", "start_pos": 117005079, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000355371", "id": "ENST00000355371", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000347532", "id": "ENSP00000347532", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0MZ66-1|SHOT1_HUMAN Isoform 1 of Shootin-1 OS=Homo sapiens OX=9606 GN=SHTN1 PE=1 SV=4 CANONICAL=A0MZ66-1", "length": 631, "sequence": "MNSSDEEKQLQLITSLKEQAIGEYEDLRAENQKTKEKCDKIRQERDEAVKKLEEFQKISHMVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINIDDEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVNKVKQEKTVLNSEVLEQRKVLEKCNRVSMLAVEEYEEMQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQKVKELEEQLENETLHKEIHNLKQQLELLEEDKKELELKYQNSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPPPLPPPPPNPIRSLMSMIRKRSHPSGSGAKKEKATQPETTEEVTDLKRQAVEEMMDRIKKGVHLRPVNQTARPKTKPESSKGCESAVDELKGILGTLNKSTSSRSLKSLDPENSETELERILRRRKVTAEADSSSPTGILATSESKSMPVLGSVSSVTKTALNKKTLEAEFNSPSPPTPEPGEGPRKLEGCTSSKVTFQPPSSIGCRKKYIDGEKQAEPVVVLDPVSTHEPQTKDQVAEKDPTQHKEDEGEIQPENKEDSIENVRETDSSNC" } }, { "url": "https://www.uniprot.org/uniprot/A0MZ66#A0MZ66-2", "isoform_ac": "A0MZ66-2", "locus": { "end_pos": 116886558, "strand": "+", "start_pos": 117005079, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000615301", "id": "ENST00000615301", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000480109", "id": "ENSP00000480109", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0MZ66-2|SHOT1_HUMAN Isoform 2 of Shootin-1 OS=Homo sapiens OX=9606 GN=SHTN1 PE=1 SV=4 CANONICAL=A0MZ66-1", "length": 456, "sequence": "MNSSDEEKQLQLITSLKEQAIGEYEDLRAENQKTKEKCDKIRQERDEAVKKLEEFQKISHMVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINIDDEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVNKVKQEKTVLNSEVLEQRKVLEKCNRVSMLAVEEYEEMQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQKVKELEEQLENETLHKEIHNLKQQLELLEEDKKELELKYQNSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPPPLPPPPPNPIRSLMSMIRKRSHPSGSGAKKEKATQPETTEEVTDLKRQAVEEMMDRIKKGVHLRPVNQTARPKTKPESSKGCESAVDELKGILASQ" } }, { "url": "https://www.uniprot.org/uniprot/A0MZ66#A0MZ66-3", "isoform_ac": "A0MZ66-3", "locus": {}, "sequence": { "header": "sp|A0MZ66-3|SHOT1_HUMAN Isoform 3 of Shootin-1 OS=Homo sapiens OX=9606 GN=SHTN1 PE=1 SV=4 CANONICAL=A0MZ66-1", "length": 649, "sequence": "MNSSDEEKQLQLITSLKEQAIGEYEDLRAENQKTKEKCDKIRQERDEAVKKLEEFQKISHMVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINIDDEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVNKVKQEKTVLNSEVLEQRKVLEKCNRVSMLAVEEYEEMQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQKVKELEEQLENETLHKEIHNLKQQLELLEEDKKELELKYQNSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPPPLPPPPPNPIRSLMSMIRKRSHPSGSGAKKEKATQPETTEEVTDLKRQAVEEMMDRIKKGVHLRPVNQTARPKTKPESSKGCESAVDELKGILGTLNKSTSSRSLKSLDPENSETELERILRRRKVTAEADSSSPTGILATSESKSMPVLGSVSSVTKTALNKKTLEAEFNSPSPPTPEPGEGPRKLEGCTSSKVTFQPPSSIGCRKKYIDGEKQAEPVVVLDPVSTHEPQTKDQVAEKDPTQHKEDEGEIQPENKEDSIENFFPFHFGFEGVLPLAGVTLSTKARDPK" } }, { "url": "https://www.uniprot.org/uniprot/A0MZ66#A0MZ66-4", "isoform_ac": "A0MZ66-4", "locus": { "end_pos": 116900540, "strand": "+", "start_pos": 117005079, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000392903", "id": "ENST00000392903", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000376636", "id": "ENSP00000376636", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0MZ66-4|SHOT1_HUMAN Isoform 4 of Shootin-1 OS=Homo sapiens OX=9606 GN=SHTN1 PE=1 SV=4 CANONICAL=A0MZ66-1", "length": 558, "sequence": "MNSSDEEKQLQLITSLKEQAIGEYEDLRAENQKTKEKCDKIRQERDEAVKKLEEFQKISHMVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINIDDEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVNKVKQEKTVLNSEVLEQRKVLEKCNRVSMLAVEEYEEMQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQKVKELEEQLENETLHKEIHNLKQQLELLEEDKKELELKYQNSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPPPLPPPPPNPIRSLMSMIRKRSHPSGSGAKKEKATQPETTEEVTDLKRQAVEEMMDRIKKGVHLRPVNQTARPKTKPESSKGCESAVDELKGILGTLNKSTSSRSLKSLDPENSETELERILRRRKVTAEADSSSPTGILATSESKSMPVLGSVSSVTKTALNKKTLEAEFNSPSPPTPEPGEGPRKLEGCTSSKVTFQ" } }, { "url": "https://www.uniprot.org/uniprot/A0MZ66#A0MZ66-5", "isoform_ac": "A0MZ66-5", "locus": { "end_pos": 116886347, "strand": "+", "start_pos": 116960222, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000260777", "id": "ENST00000260777", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000260777", "id": "ENSP00000260777", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0MZ66-5|SHOT1_HUMAN Isoform 5 of Shootin-1 OS=Homo sapiens OX=9606 GN=SHTN1 PE=1 SV=4 CANONICAL=A0MZ66-1", "length": 571, "sequence": "MVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINIDDEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVNKVKQEKTVLNSEVLEQRKVLEKCNRVSMLAVEEYEEMQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQKVKELEEQLENETLHKEIHNLKQQLELLEEDKKELELKYQNSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPPPLPPPPPNPIRSLMSMIRKRSHPSGSGAKKEKATQPETTEEVTDLKRQAVEEMMDRIKKGVHLRPVNQTARPKTKPESSKGCESAVDELKGILGTLNKSTSSRSLKSLDPENSETELERILRRRKVTAEADSSSPTGILATSESKSMPVLGSVSSVTKTALNKKTLEAEFNSPSPPTPEPGEGPRKLEGCTSSKVTFQPPSSIGCRKKYIDGEKQAEPVVVLDPVSTHEPQTKDQVAEKDPTQHKEDEGEIQPENKEDSIENVRETDSSNC" } }, { "url": "https://www.uniprot.org/uniprot/A0MZ66#A0MZ66-6", "isoform_ac": "A0MZ66-6", "locus": {}, "sequence": { "header": "sp|A0MZ66-6|SHOT1_HUMAN Isoform 6 of Shootin-1 OS=Homo sapiens OX=9606 GN=SHTN1 PE=1 SV=4 CANONICAL=A0MZ66-1", "length": 601, "sequence": "MPRILKQCDKIRQERDEAVKKLEEFQKISHMVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINIDDEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVNKVKQEKTVLNSEVLEQRKVLEKCNRVSMLAVEEYEEMQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQKVKELEEQLENETLHKEIHNLKQQLELLEEDKKELELKYQNSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPPPLPPPPPNPIRSLMSMIRKRSHPSGSGAKKEKATQPETTEEVTDLKRQAVEEMMDRIKKGVHLRPVNQTARPKTKPESSKGCESAVDELKGILGTLNKSTSSRSLKSLDPENSETELERILRRRKVTAEADSSSPTGILATSESKSMPVLGSVSSVTKTALNKKTLEAEFNSPSPPTPEPGEGPRKLEGCTSSKVTFQPPSSIGCRKKYIDGEKQAEPVVVLDPVSTHEPQTKDQVAEKDPTQHKEDEGEIQPENKEDSIENVRETDSSNC" } }, { "url": "https://www.uniprot.org/uniprot/A0MZ66#A0MZ66-7", "isoform_ac": "A0MZ66-7", "locus": {}, "sequence": { "header": "sp|A0MZ66-7|SHOT1_HUMAN Isoform 7 of Shootin-1 OS=Homo sapiens OX=9606 GN=SHTN1 PE=1 SV=4 CANONICAL=A0MZ66-1", "length": 219, "sequence": "MMDRIKKGVHLRPVNQTARPKTKPESSKGCESAVDELKGILGTLNKSTSSRSLKSLDPENSETELERILRRRKVTAEADSSSPTGILATSESKSMPVLGSVSSVTKTALNKKTLEAEFNSPSPPTPEPGEGPRKLEGCTSSKVTFQPPSSIGCRKKYIDGEKQAEPVVVLDPVSTHEPQTKDQVAEKDPTQHKEDEGEIQPENKEDSIENVRETDSSNC" } }, { "url": "https://www.uniprot.org/uniprot/A0MZ66#A0MZ66-8", "isoform_ac": "A0MZ66-8", "locus": { "end_pos": 116900540, "strand": "+", "start_pos": 116960222, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000392901", "id": "ENST00000392901", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000376635", "id": "ENSP00000376635", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0MZ66-8|SHOT1_HUMAN Isoform 8 of Shootin-1 OS=Homo sapiens OX=9606 GN=SHTN1 PE=1 SV=4 CANONICAL=A0MZ66-1", "length": 498, "sequence": "MVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINIDDEDSTTDTDGAAETCVSVQCQKQIKELRDQIVSVQEEKKILAIELENLKSKLVEVIEEVNKVKQEKTVLNSEVLEQRKVLEKCNRVSMLAVEEYEEMQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSIPDQQLLKALDENAKLTQQLEEERIQHQQKVKELEEQLENETLHKEIHNLKQQLELLEEDKKELELKYQNSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPPPLPPPPPNPIRSLMSMIRKRSHPSGSGAKKEKATQPETTEEVTDLKRQAVEEMMDRIKKGVHLRPVNQTARPKTKPESSKGCESAVDELKGILGTLNKSTSSRSLKSLDPENSETELERILRRRKVTAEADSSSPTGILATSESKSMPVLGSVSSVTKTALNKKTLEAEFNSPSPPTPEPGEGPRKLEGCTSSKVTFQ" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57698", "resource": "KEGG Pathway", "id": "hsa:57698", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-437239", "description": "Recycling pathway of L1", "resource": "Reactome", "id": "R-HSA-437239", "name": "Recycling pathway of L1" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66#function", "annotation": "Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or 'clutch engagement' within the axon growth cone through activation of CDC42, RAC1 and PAK1-dependent signaling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organization by regulating the subcellular localization of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone. Plays also a role in regenerative neurite outgrowth. In the developing cortex, cooperates with KIF20B to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in the accumulation of phosphatidylinositol 3,4,5-trisphosphate (PIP3) in the growth cone of primary hippocampal neurons.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66#function", "id": "A0MZ66", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "annotation": "Rnaset2 inhibits melanocyte outgrowth through interacting with shootin1, and this effect may be associated with vitiligo pathogenesis.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "annotation": "SHTN1 might be associated with the development of nonsyndromic cleft lip with or without cleft palate.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "A0MZ67-1", "protein_name": "Shootin-1", "sequence": { "length": 633, "sequence": "MNSSDEEKQLQLITSLKEQAIGEYEDLRAENQKTKETCDKIRQERDEAVKKLEEFQKISHMVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINIDDDDPGTDTDAAAETCVSVQCQKQIKELRDQIVSVQEEKKVLAIELESLKSKLGEVMEEVNKVKQEKAVLNSEVLEQRKVLEKCNRVSVLAVEEYEELQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSLPDQQLLKALDENAKLIQQLEEERIQHQQKVKELEERLENEALHKEIHNLRQQLELLEDDKRELEQKYQSSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPPPLPPPPPNPIRSLMSMIRKRSHPSGGSTKKEKATQPETAEEVTDLKRQAVEEMMDRIKKGVHLRPVNQTARPKAKPDSLKGSESAVDELKGILGTLNKSTSSRSLKSLGPENSETELERILRRRKLTAEADSSSPTGILATSESKSMPVLGSVSSVTKSALNKKTLEAEFNNPCPLTPEPGEGPRKLEGCTNSKVTFQPPSKGGYRRKCVGSENQSEPVVVLDPVSTHEPQTKDQAAEKDPTQCKEEERGETQPEFKEDSSGGKTGETDSSNC" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/41249", "id": "41249", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Shtn1", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8K2Q9-1", "protein_name": "Shootin-1", "sequence": { "length": 631, "sequence": "MNSSDEEKQLQLITSLKEQAIGEYEDLRAENQKTKEKCDKIRQERDEAVKKLEEFQKISHMVIEEVNFMQNHLEIEKTCRESAEALATKLNKENKTLKRISMLYMAKLGPDVITEEINIDDDDPATDTDAAAETCVSVQCQKQIKELRDQIVSVQEEKKVLAIELENLKSKLGEVMEEVNKVKQEKAVLNSEVLEQRKVLEKCNRVSMLAVEEYEELQVNLELEKDLRKKAESFAQEMFIEQNKLKRQSHLLLQSSLPDQQLLKALDENAKLIQQLEEERIQHQKKVKELEERLENEALHKEIHNLRQQLELLEDDKRELEQKYQSSEEKARNLKHSVDELQKRVNQSENSVPPPPPPPPPLPPPPPNPIRSLMSMIRKRSHPSGNSAKKEKTTQPETAEEVTDLKRQAVEEMMDRIKKGVHLRPVNQTARPKAKPDSLKGSESAVDELKGILGTLNKSTSSRSLKSLGPENSETELERILRRRKLTAEADSSSPTGILATSESKSMPVLGSVSSVTKSALNKKTLEAEFNNPCPLTPEPGEGPRKLEGCTNPKVTFQPPSKGGYRRKCVGSENQAEPVVVLDPVSTHEPQTKDQAAEKDPTQFEEEGGETQPEYKEDSGGKTGETDSSNC" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/41249", "id": "41249", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Shtn1", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "T", "start_pos": 187, "alt_nt": "A", "chr_id": "10", "subjects_positive": "1", "chr_pos": "118708484", "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/A0MZ66", "id": "A0MZ66", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 187, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "sequence_org": "N", "start_pos": 333, "alt_nt": "A", "chr_id": "10", "subjects_positive": "1", "chr_pos": "118689374", "disease": [ { "disease_id": "DOID:2394", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant Ovarian tumor", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovarian neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovary neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "primary ovarian cancer", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of ovary", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "tumor of the Ovary", "id": "DOID:2394" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1; OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, epithelial", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, NOS", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "primary ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian malignant tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumour of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://www.omim.org/entry/167000", "resource": "MIM", "description": "Ovarian cancer", "name": "Ovarian cancer", "id": "MIM:167000" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the ovary.", "name": "ovarian cancer", "id": "DOID:2394" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0MZ66", "id": "A0MZ66", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "I", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 333, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%). In dbSNP: rs1352208145.", "sequence_org": "M", "start_pos": 376, "alt_nt": "A", "chr_id": "10", "subjects_positive": "1", "chr_pos": "118681012", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0MZ66", "id": "A0MZ66", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.0", "sequence_mut": "I", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 376, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs905104409.", "sequence_org": "V", "start_pos": 49, "alt_nt": "T", "chr_id": "10", "subjects_positive": "1", "chr_pos": "118728190", "disease": [ { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } }, { "disease_id": "DOID:2531", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "malignant hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematological tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic malignancy", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic and lymphoid system tumor", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "blood cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic neoplasm", "id": "DOID:2531" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "name": "hematologic cancer", "id": "DOID:2531" } }, { "disease_id": "DOID:1319", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult malignant brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "BT - Brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm, adult", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "tumor of the Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of adult brain", "id": "DOID:1319" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "name": "brain cancer", "id": "DOID:1319" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0MZ66", "id": "A0MZ66", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "I", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 49, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "sequence_org": "L", "start_pos": 521, "alt_nt": "G", "chr_id": "10", "subjects_positive": "1", "chr_pos": "118661386", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0MZ66", "id": "A0MZ66", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "F", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 521, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "sequence_org": "E", "start_pos": 93, "alt_nt": "A", "chr_id": "10", "subjects_positive": "1", "chr_pos": "118713712", "disease": [ { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0MZ66", "id": "A0MZ66", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "*", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 93, "minor_allelic_frequency": "", "ref_nt": "C" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "ac": "NP_001120683.1", "name": "shootin-1 isoform a", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "pmid": "32296183", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "identical protein binding", "id": "GO:0042802" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "pmid": "25468996", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "cadherin binding", "id": "GO:0045296" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "actin filament binding", "id": "GO:0051015" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "kinesin binding", "id": "GO:0019894" } ], "total": 4, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "25468996", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "microtubule", "id": "GO:0005874" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "lamellipodium", "id": "GO:0030027" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "axon", "id": "GO:0030424" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "growth cone", "id": "GO:0030426" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "cell leading edge", "id": "GO:0031252" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "perikaryon", "id": "GO:0043204" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "perinuclear region of cytoplasm", "id": "GO:0048471" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "microtubule cytoskeleton", "id": "GO:0015630" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "filopodium", "id": "GO:0030175" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "microtubule associated complex", "id": "GO:0005875" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "axonal growth cone", "id": "GO:0044295" } ], "total": 12, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001224", "pmid": "23864681", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "positive regulation of neuron migration", "id": "GO:2001224" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060327", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "cytoplasmic actin-based contraction involved in cell motility", "id": "GO:0060327" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061163", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "endoplasmic reticulum polarization", "id": "GO:0061163" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061573", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "actin filament bundle retrograde transport", "id": "GO:0061573" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "axonogenesis", "id": "GO:0007409" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "neuron projection morphogenesis", "id": "GO:0048812" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "Ras protein signal transduction", "id": "GO:0007265" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "positive regulation of axon extension", "id": "GO:0045773" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006930", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "substrate-dependent cell migration, cell extension", "id": "GO:0006930" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038007", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "netrin-activated signaling pathway", "id": "GO:0038007" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000114", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "regulation of establishment of cell polarity", "id": "GO:2000114" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032488", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "name": "Cdc42 protein signal transduction", "id": "GO:0032488" } ], "total": 12, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 298, "annotation": "n_glycosylation_sequon", "start_pos": 296 }, { "end_pos": 4, "annotation": "n_glycosylation_sequon", "start_pos": 2 }, { "end_pos": 348, "annotation": "n_glycosylation_sequon", "start_pos": 346 }, { "end_pos": 429, "annotation": "n_glycosylation_sequon", "start_pos": 427 }, { "end_pos": 459, "annotation": "n_glycosylation_sequon", "start_pos": 457 }, { "end_pos": 96, "annotation": "n_glycosylation_sequon", "start_pos": 94 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0MZ66", "id": "A0MZ66", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHTN1", "id": "SHTN1", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/57698", "id": "57698", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29319", "id": "29319", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0MZ66*", "id": "A0MZ66", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR024849", "id": "IPR024849", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57698", "id": "hsa:57698", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/611171", "id": "611171", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A0MZ66", "id": "NX_A0MZ66", "database": "neXtProt" }, { "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0MZ66", "id": "A0MZ66", "database": "O-GlcNAc Database" }, { "url": "https://omabrowser.org/oma/group/QKERNVL/", "id": "QKERNVL", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=744654at2759", "id": "744654at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46606", "id": "PTHR46606", "database": "PANTHER" }, { "url": "https://pharos.nih.gov/targets/A0MZ66", "id": "A0MZ66", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A0MZ66", "id": "PR_A0MZ66", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-437239", "id": "R-HSA-437239", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683", "id": "NP_001120683", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120683.1", "id": "NP_001120683.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66-1", "id": "A0MZ66-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66-2", "id": "A0MZ66-2", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66-3", "id": "A0MZ66-3", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66-4", "id": "A0MZ66-4", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66-5", "id": "A0MZ66-5", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66-6", "id": "A0MZ66-6", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66-7", "id": "A0MZ66-7", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66-8", "id": "A0MZ66-8", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:10283", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "hereditary prostate cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "NGP - new growth of prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate cancer, familial", "id": "DOID:10283" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "HPC4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, on chromosome 7", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "EHBP1 familial prostate cancer", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12; HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in EHBP1", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "HPC5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "HPC3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13; HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "MSMB familial prostate cancer", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in MSMB", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "predisposing for prostate cancer", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "HPC8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "HPC6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "HPC9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.", "name": "familial prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "familial prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, familial", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer aggressiveness", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7; HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in RNASEL", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "RNASEL familial prostate cancer", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1; HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "Prca1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11; HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14; HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15; HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer susceptibility, X-linked", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1; HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2; HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10; HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://www.omim.org/entry/611868", "resource": "MIM", "description": "Prostate cancer, hereditary, 12", "name": "Prostate cancer, hereditary, 12", "id": "MIM:611868" }, { "url": "https://www.omim.org/entry/611928", "resource": "MIM", "description": "Prostate cancer, hereditary, 13", "name": "Prostate cancer, hereditary, 13", "id": "MIM:611928" }, { "url": "https://www.omim.org/entry/176807", "resource": "MIM", "description": "Prostate cancer", "name": "Prostate cancer", "id": "MIM:176807" }, { "url": "https://www.omim.org/entry/601518", "resource": "MIM", "description": "Prostate cancer, hereditary, 1", "name": "Prostate cancer, hereditary, 1", "id": "MIM:601518" }, { "url": "https://www.omim.org/entry/611955", "resource": "MIM", "description": "Prostate cancer, hereditary, 11", "name": "Prostate cancer, hereditary, 11", "id": "MIM:611955" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "A male reproductive organ cancer that is located_in the prostate.", "name": "prostate cancer", "id": "DOID:10283" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0MZ66", "id": "A0MZ66", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0MZ66", "id": "A0MZ66", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "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/bioxpress/transcriptview/A0MZ66", "id": "A0MZ66", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:3571", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "resectable malignant neoplasm of the liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Resectable malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, not specified as primary or secondary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "non-resectable primary hepatic malignant neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary liver cancer", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant hepato-biliary neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic cancer", "id": "DOID:3571" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "A hepatobiliary system cancer that is located_in the liver.", "name": "liver cancer", "id": "DOID:3571" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0MZ66", "id": "A0MZ66", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:3907", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "", "name": "Epidermoid cell carcinoma of the lung", "id": "DOID:3907" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "name": "lung squamous cell carcinoma", "id": "DOID:3907" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0MZ66", "id": "A0MZ66", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:3910", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "nonsmall cell adenocarcinoma", "id": "DOID:3910" }, { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "bronchogenic lung adenocarcinoma", "id": "DOID:3910" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "A lung cancer that derives_from epithelial cells of glandular origin.", "name": "lung adenocarcinoma", "id": "DOID:3910" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0MZ66", "id": "A0MZ66", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:5041", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "esophagus cancer", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca middle third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Distal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Proximal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the middle Third of the esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca lower third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "DOID:5041" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the esophagus.", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "gastric cardia adenocarcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "cancer of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Escc, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Aerodigestive tract cancer, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca lower third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the middle third of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophagus cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca middle third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal squamous cell carcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://www.omim.org/entry/133239", "resource": "MIM", "description": "Esophageal cancer", "name": "Esophageal cancer", "id": "MIM:133239" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "name": "esophageal cancer", "id": "DOID:5041" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0MZ66", "id": "A0MZ66", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" } ], "glycosylation": [], "mutagenesis": [], "disease": [], "phosphorylation": [ { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26261183", "id": "26261183", "database": "PubMed" } ], "start_pos": 101, "end_pos": 101, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine; by PAK1", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "start_pos": 101, "end_pos": 101, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26261183", "id": "26261183", "database": "PubMed" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 249, "end_pos": 249, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ], "start_pos": 249, "end_pos": 249, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ], "start_pos": 375, "end_pos": 375, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 375, "end_pos": 375, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "start_pos": 3, "end_pos": 3, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 473, "end_pos": 473, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 473, "end_pos": 473, "kinase_uniprot_canonical_ac": "" }, { "residue": "Thr", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 487, "end_pos": 487, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Thr", "comment": "Phosphothreonine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 487, "end_pos": 487, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://phospho.elm.eu.org/byAccession/A0MZ66.html", "id": "A0MZ66", "database": "phospho.ELM" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" } ], "start_pos": 492, "end_pos": 492, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://phospho.elm.eu.org/byAccession/A0MZ66.html", "id": "A0MZ66", "database": "phospho.ELM" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ], "start_pos": 494, "end_pos": 494, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 494, "end_pos": 494, "kinase_uniprot_canonical_ac": "" }, { "residue": "Thr", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://phospho.elm.eu.org/byAccession/A0MZ66.html", "id": "A0MZ66", "database": "phospho.ELM" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ], "start_pos": 496, "end_pos": 496, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Thr", "comment": "Phosphothreonine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ], "start_pos": 496, "end_pos": 496, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 4, "end_pos": 4, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 4, "end_pos": 4, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://phospho.elm.eu.org/byAccession/A0MZ66.html", "id": "A0MZ66", "database": "phospho.ELM" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21406692", "id": "21406692", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ], "start_pos": 506, "end_pos": 506, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21406692", "id": "21406692", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ], "start_pos": 506, "end_pos": 506, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://phospho.elm.eu.org/byAccession/A0MZ66.html", "id": "A0MZ66", "database": "phospho.ELM" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" } ], "start_pos": 512, "end_pos": 512, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://phospho.elm.eu.org/byAccession/A0MZ66.html", "id": "A0MZ66", "database": "phospho.ELM" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" } ], "start_pos": 515, "end_pos": 515, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" } ], "start_pos": 515, "end_pos": 515, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://phospho.elm.eu.org/byAccession/A0MZ66.html", "id": "A0MZ66", "database": "phospho.ELM" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 532, "end_pos": 532, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ], "start_pos": 532, "end_pos": 532, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://phospho.elm.eu.org/byAccession/A0MZ66.html", "id": "A0MZ66", "database": "phospho.ELM" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 534, "end_pos": 534, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 534, "end_pos": 534, "kinase_uniprot_canonical_ac": "" }, { "residue": "Thr", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://phospho.elm.eu.org/byAccession/A0MZ66.html", "id": "A0MZ66", "database": "phospho.ELM" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0MZ66", "id": "A0MZ66", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16964243", "id": "16964243", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 537, "end_pos": 537, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Thr", "comment": "Phosphothreonine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "id": "A0MZ66", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ], "start_pos": 537, "end_pos": 537, "kinase_uniprot_canonical_ac": "" } ], "mass": { "monoisotopic_mass": 71640.0, "chemical_mass": 71640.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "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=ENSG00000187164", "id": "ENSG00000187164", "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=ENSG00000187164", "id": "ENSG00000187164", "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=ENSG00000187164", "id": "ENSG00000187164", "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=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "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=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "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=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] }, { "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=ENSG00000187164", "id": "ENSG00000187164", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66", "name": "SHTN1", "locus": { "end_pos": 116881482, "strand": "-", "start_pos": 117126586, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000187164", "id": "ENSG00000187164", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0MZ66#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Shootin-1" }, { "url": "https://www.uniprot.org/uniprot/A0MZ66#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Shootin1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0MZ66", "type": "synonym", "resource": "RefSeq", "name": "shootin-1 isoform a" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0MZ66", "type": "synonym", "resource": "RefSeq", "name": "shootin1" } ] }