{ "uniprot_canonical_ac": "A1A5C7-1", "ptm_annotation": [], "sequence": { "header": "sp|A1A5C7-1|S22AN_HUMAN Isoform 1 of Solute carrier family 22 member 23 OS=Homo sapiens OX=9606 GN=SLC22A23 PE=1 SV=2 CANONICAL=A1A5C7-1", "length": 686, "sequence": "MAIDRRREAAGGGPGRQPAPAEENGSLPPGDAAASAPLGGRAGPGGGAEIQPLPPLHPGGGPHPSCCSAAAAPSLLLLDYDGSVLPFLGGLGGGYQKTLVLLTWIPALFIGFSQFSDSFLLDQPNFWCRGAGKGTELAGVTTTGRGGDMGNWTSLPTTPFATAPWEAAGNRSNSSGADGGDTPPLPSPPDKGDNASNCDCRAWDYGIRAGLVQNVVSKWDLVCDNAWKVHIAKFSLLVGLIFGYLITGCIADWVGRRPVLLFSIIFILIFGLTVALSVNVTMFSTLRFFEGFCLAGIILTLYALRIELCPPGKRFMITMVASFVAMAGQFLMPGLAALCRDWQVLQALIICPFLLMLLYWSIFPESLRWLMATQQFESAKRLILHFTQKNRMNPEGDIKGVIPELEKELSRRPKKVCIVKVVGTRNLWKNIVVLCVNSLTGYGIHHCFARSMMGHEVKVPLLENFYADYYTTASIALVSCLAMCVVVRFLGRRGGLLLFMILTALASLLQLGLLNLIGKYSQHPDSGMSDSVKDKFSIAFSIVGMFASHAVGSLSVFFCAEITPTVIRCGGLGLVLASAGFGMLTAPIIELHNQKGYFLHHIIFACCTLICIICILLLPESRDQNLPENISNGEHYTRQPLLPHKKGEQPLLLTNAELKDYSGLHDAAAAGDTLPEGATANGMKAM" }, "uniprot_id": "S22AN_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5C7", "id": "A1A5C7", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17714910", "type": [ "PubMed" ], "id": "17714910" } ], "title": "Identification of six putative human transporters with structural similarity to the drug transporter SLC22 family.", "journal": "Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5C7", "id": "A1A5C7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "id": "NP_001273384.1", "database": "RefSeq" } ], "authors": "Fredriksson R., Haitina T., Jacobsson J.A., Lindblom J.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19068216", "type": [ "PubMed" ], "id": "19068216" } ], "title": "Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.", "journal": "Gastroenterology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "id": "NP_001273384.1", "database": "RefSeq" } ], "authors": "Anderson CA, Massey DC, Barrett JC, Prescott NJ, Tremelling M, Fisher SA, Gwilliam R, Jacob J, Nimmo ER, Drummond H, Lees CW, Onnie CM, Hanson C, Blaszczyk K, Ravindrarajah R, Hunt S, Varma D, Hammond N, Lewis G, Attlesey H, Watkins N, Ouwehand W, Strachan D, McArdle W, Lewis CM, Lobo A, Sanderson J, Jewell DP, Deloukas P, Mansfield JC, Mathew CG, Satsangi J, Parkes M", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19174780", "type": [ "PubMed" ], "id": "19174780" } ], "title": "Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.", "journal": "The American journal of gastroenterology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "id": "NP_001273384.1", "database": "RefSeq" } ], "authors": "Weersma RK, Stokkers PC, Cleynen I, Wolfkamp SC, Henckaerts L, Schreiber S, Dijkstra G, Franke A, Nolte IM, Rutgeerts P, Wijmenga C, Vermeire S", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19422935", "type": [ "PubMed" ], "id": "19422935" } ], "title": "Genetic risk profiling and prediction of disease course in Crohn's disease patients.", "journal": "Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "id": "NP_001273384.1", "database": "RefSeq" } ], "authors": "Henckaerts L, Van Steen K, Verstreken I, Cleynen I, Franke A, Schreiber S, Rutgeerts P, Vermeire S", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19760754", "type": [ "PubMed" ], "id": "19760754" } ], "title": "Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients.", "journal": "Inflammatory bowel diseases", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "id": "NP_001273384.1", "database": "RefSeq" } ], "authors": "Torkvist L, Halfvarson J, Ong RT, Lordal M, Sjoqvist U, Bresso F, Bjork J, Befrits R, Lofberg R, Blom J, Carlson M, Padyukov L, D'Amato M, Seielstad M, Pettersson S", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21221126", "type": [ "PubMed" ], "id": "21221126" } ], "title": "Genome-wide association study of serious blistering skin rash caused by drugs.", "journal": "The pharmacogenomics journal", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "id": "NP_001273384.1", "database": "RefSeq" } ], "authors": "Shen Y, Nicoletti P, Floratos A, Pirmohamed M, Molokhia M, Geppetti P, Benemei S, Giomi B, Schena D, Vultaggio A, Stern R, Daly MJ, John S, Nelson MR, Pe'er I", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24740203", "type": [ "PubMed" ], "id": "24740203" } ], "title": "Single-nucleotide polymorphisms in SLC22A23 are associated with ulcerative colitis in a Canadian white cohort.", "journal": "The American journal of clinical nutrition", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "id": "NP_001273384.1", "database": "RefSeq" } ], "authors": "Serrano Leon A, Amir Shaghaghi M, Yurkova N, Bernstein CN, El-Gabalawy H, Eck P", "date": "2014" } ], "uniprot_ac": "A1A5C7", "site_annotation": [ { "end_pos": 153, "annotation": "n_glycosylation_sequon", "start_pos": 151 }, { "end_pos": 172, "annotation": "n_glycosylation_sequon", "start_pos": 170 }, { "end_pos": 175, "annotation": "n_glycosylation_sequon", "start_pos": 173 }, { "end_pos": 196, "annotation": "n_glycosylation_sequon", "start_pos": 194 }, { "end_pos": 26, "annotation": "n_glycosylation_sequon", "start_pos": 24 }, { "end_pos": 281, "annotation": "n_glycosylation_sequon", "start_pos": 279 }, { "end_pos": 631, "annotation": "n_glycosylation_sequon", "start_pos": 629 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1A5C7#A1A5C7-1", "isoform_ac": "A1A5C7-1", "locus": { "end_pos": 3273058, "strand": "+", "start_pos": 3456559, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000406686", "id": "ENST00000406686", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000385028", "id": "ENSP00000385028", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1A5C7-1|S22AN_HUMAN Isoform 1 of Solute carrier family 22 member 23 OS=Homo sapiens OX=9606 GN=SLC22A23 PE=1 SV=2 CANONICAL=A1A5C7-1", "length": 686, "sequence": "MAIDRRREAAGGGPGRQPAPAEENGSLPPGDAAASAPLGGRAGPGGGAEIQPLPPLHPGGGPHPSCCSAAAAPSLLLLDYDGSVLPFLGGLGGGYQKTLVLLTWIPALFIGFSQFSDSFLLDQPNFWCRGAGKGTELAGVTTTGRGGDMGNWTSLPTTPFATAPWEAAGNRSNSSGADGGDTPPLPSPPDKGDNASNCDCRAWDYGIRAGLVQNVVSKWDLVCDNAWKVHIAKFSLLVGLIFGYLITGCIADWVGRRPVLLFSIIFILIFGLTVALSVNVTMFSTLRFFEGFCLAGIILTLYALRIELCPPGKRFMITMVASFVAMAGQFLMPGLAALCRDWQVLQALIICPFLLMLLYWSIFPESLRWLMATQQFESAKRLILHFTQKNRMNPEGDIKGVIPELEKELSRRPKKVCIVKVVGTRNLWKNIVVLCVNSLTGYGIHHCFARSMMGHEVKVPLLENFYADYYTTASIALVSCLAMCVVVRFLGRRGGLLLFMILTALASLLQLGLLNLIGKYSQHPDSGMSDSVKDKFSIAFSIVGMFASHAVGSLSVFFCAEITPTVIRCGGLGLVLASAGFGMLTAPIIELHNQKGYFLHHIIFACCTLICIICILLLPESRDQNLPENISNGEHYTRQPLLPHKKGEQPLLLTNAELKDYSGLHDAAAAGDTLPEGATANGMKAM" } }, { "url": "https://www.uniprot.org/uniprot/A1A5C7#A1A5C7-2", "isoform_ac": "A1A5C7-2", "locus": { "end_pos": 3273058, "strand": "+", "start_pos": 3410257, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000490273", "id": "ENST00000490273", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419463", "id": "ENSP00000419463", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1A5C7-2|S22AN_HUMAN Isoform 2 of Solute carrier family 22 member 23 OS=Homo sapiens OX=9606 GN=SLC22A23 PE=1 SV=2 CANONICAL=A1A5C7-1", "length": 405, "sequence": "MFSTLRFFEGFCLAGIILTLYALRIELCPPGKRFMITMVASFVAMAGQFLMPGLAALCRDWQVLQALIICPFLLMLLYWSIFPESLRWLMATQQFESAKRLILHFTQKNRMNPEGDIKGVIPELEKELSRRPKKVCIVKVVGTRNLWKNIVVLCVNSLTGYGIHHCFARSMMGHEVKVPLLENFYADYYTTASIALVSCLAMCVVVRFLGRRGGLLLFMILTALASLLQLGLLNLIGKYSQHPDSGMSDSVKDKFSIAFSIVGMFASHAVGSLSVFFCAEITPTVIRCGGLGLVLASAGFGMLTAPIIELHNQKGYFLHHIIFACCTLICIICILLLPESRDQNLPENISNGEHYTRQPLLPHKKGEQPLLLTNAELKDYSGLHDAAAAGDTLPEGATANGMKAM" } }, { "url": "https://www.uniprot.org/uniprot/A1A5C7#A1A5C7-3", "isoform_ac": "A1A5C7-3", "locus": {}, "sequence": { "header": "sp|A1A5C7-3|S22AN_HUMAN Isoform 3 of Solute carrier family 22 member 23 OS=Homo sapiens OX=9606 GN=SLC22A23 PE=1 SV=2 CANONICAL=A1A5C7-1", "length": 316, "sequence": "MATQQFESAKRLILHFTQKNRMNPEGDIKGVIPELEKELSRRPKKVCIVKVVGTRNLWKNIVVLCVNSLTGYGIHHCFARSMMGHEVKVPLLENFYADYYTTASIALVSCLAMCVVVRFLGRRGGLLLFMILTALASLLQLGLLNLIGKYSQHPDSGMSDSVKDKFSIAFSIVGMFASHAVGSLSVFFCAEITPTVIRCGGLGLVLASAGFGMLTAPIIELHNQKGYFLHHIIFACCTLICIICILLLPESRDQNLPENISNGEHYTRQPLLPHKKGEQPLLLTNAELKDYSGLHDAAAAGDTLPEGATANGMKAM" } }, { "url": "https://www.uniprot.org/uniprot/A1A5C7#A1A5C7-4", "isoform_ac": "A1A5C7-4", "locus": { "end_pos": 3323833, "strand": "+", "start_pos": 3456559, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000380298", "id": "ENST00000380298", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000369653", "id": "ENSP00000369653", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1A5C7-4|S22AN_HUMAN Isoform 4 of Solute carrier family 22 member 23 OS=Homo sapiens OX=9606 GN=SLC22A23 PE=1 SV=2 CANONICAL=A1A5C7-1", "length": 361, "sequence": "MAIDRRREAAGGGPGRQPAPAEENGSLPPGDAAASAPLGGRAGPGGGAEIQPLPPLHPGGGPHPSCCSAAAAPSLLLLDYDGSVLPFLGGLGGGYQKTLVLLTWIPALFIGFSQFSDSFLLDQPNFWCRGAGKGTELAGVTTTGRGGDMGNWTSLPTTPFATAPWEAAGNRSNSSGADGGDTPPLPSPPDKGDNASNCDCRAWDYGIRAGLVQNVVSKWDLVCDNAWKVHIAKFSLLVGLIFGYLITGCIADWVGRRPVLLFSIIFILIFGLTVALSVNVTMFSTLRFFEGFCLAGIILTLYALRIELCPPGKRFMITMVASFVAMAGQFLMPGLAALCRDWQVLQALIICPFLLMLLYWS" } }, { "url": "https://www.uniprot.org/uniprot/A1A5C7#C9IZW5-1", "isoform_ac": "C9IZW5-1", "locus": { "end_pos": 3283875, "strand": "+", "start_pos": 3439356, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000467177", "id": "ENST00000467177", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000418985", "id": "ENSP00000418985", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9IZW5-1|S22AN_HUMAN Computationally mapped isoform of Solute carrier family 22 member 23 OS=Homo sapiens OX=9606 GN=SLC22A23 PE=1 SV=1 CANONICAL=A1A5C7-1", "length": 386, "sequence": "MPVGPQHPSFKRSSLDTFHGCCQQQETGALPWDTDTKRWRPELNWDLVCDNAWKVHIAKFSLLVGLIFGYLITGCIADWVGRRPVLLFSIIFILIFGLTVALSVNVTMFSTLRFFEGFCLAGIILTLYALRIELCPPGKRFMITMVASFVAMAGQFLMPGLAALCRDWQVLQALIICPFLLMLLYWSIFPESLRWLMATQQFESAKRLILHFTQKNRMNPEGDIKGVIPELEKELSRRPKKVCIVKVVGTRNLWKNIVVLCVNSLTGYGIHHCFARSMMGHEVKVPLLENFYADYYTTASIALVSCLAMCVVVRFLGRRGGLLLFMILTALASLLQLGLLNLIGKYSQHPDSGMSDSVKDKFSIAFSIVGMFASHAVGSLSVFFCA" } }, { "url": "https://www.uniprot.org/uniprot/A1A5C7#C9J4Z0-1", "isoform_ac": "C9J4Z0-1", "locus": { "end_pos": 3273058, "strand": "+", "start_pos": 3456559, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000436008", "id": "ENST00000436008", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000410245", "id": "ENSP00000410245", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9J4Z0-1|S22AN_HUMAN Computationally mapped isoform of Solute carrier family 22 member 23 OS=Homo sapiens OX=9606 GN=SLC22A23 PE=1 SV=1 CANONICAL=A1A5C7-1", "length": 694, "sequence": "MAIDRRREAAGGGPGRQPAPAEENGSLPPGDAAASAPLGGRAGPGGGAEIQPLPPLHPGGGPHPSCCSAAAAPSLLLLDYDGSVLPFLGGLGGGYQKTLVLLTWIPALFIGFSQFSDSFLLDQPNFWCRGAGKGTELAGVTTTGRGGDMGNWTSLPTTPFATAPWEAAGNRSNSSGADGGDTPPLPSPPDKGDNASNCDCRAWDYGIRAGLVQNVVSKWDLVCDNAWKVHIAKFSLLVGLIFGYLITGCIADWVGRRPVLLFSIIFILIFGLTVALSVNVTMFSTLRFFEGFCLAGIILTLYALRIELCPPGKRFMITMVASFVAMAGQFLMPGLAALCRDWQVLQALIICPFLLMLLYWSIFPESLRWLMATQQFESAKRLILHFTQKNRMNPEGDIKGVIPELEKELSRRPKKVCIVKVVGTRNLWKNIVVLCVNSLTGYGIHHCFARSMMGHEVKVPLLENFYADYYTTASIALVSCLAMCVVVRFLGRRGGLLLFMILTALASLLQLGLLNLIGKYSQHPDSELQLKLAVGMSDSVKDKFSIAFSIVGMFASHAVGSLSVFFCAEITPTVIRCGGLGLVLASAGFGMLTAPIIELHNQKGYFLHHIIFACCTLICIICILLLPESRDQNLPENISNGEHYTRQPLLPHKKGEQPLLLTNAELKDYSGLHDAAAAGDTLPEGATANGMKAM" } }, { "url": "https://www.uniprot.org/uniprot/A1A5C7#F8WBC7-1", "isoform_ac": "F8WBC7-1", "locus": { "end_pos": 3323282, "strand": "+", "start_pos": 3410257, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000497691", "id": "ENST00000497691", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000417737", "id": "ENSP00000417737", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WBC7-1|S22AN_HUMAN Computationally mapped isoform of Solute carrier family 22 member 23 OS=Homo sapiens OX=9606 GN=SLC22A23 PE=1 SV=1 CANONICAL=A1A5C7-1", "length": 92, "sequence": "MFSTLRFFEGFCLAGIILTLYALRIELCPPGKRFMITMVASFVAMAGQFLMPGLAALCRDWQVLQALIICPFLLMLLYWSYYLWLLSGYSQS" } }, { "url": "https://www.uniprot.org/uniprot/A1A5C7#H7C4T9-1", "isoform_ac": "H7C4T9-1", "locus": { "end_pos": 3283719, "strand": "+", "start_pos": 3456043, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000485307", "id": "ENST00000485307", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000418134", "id": "ENSP00000418134", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C4T9-1|S22AN_HUMAN Computationally mapped isoform of Solute carrier family 22 member 23 OS=Homo sapiens OX=9606 GN=SLC22A23 PE=1 SV=1 CANONICAL=A1A5C7-1", "length": 440, "sequence": "NSSGADGGDTPPLPSPPDKGDNASNCDCRAWDYGIRAGLVQNVVSKWDLVCDNAWKVHIAKFSLLVGLIFGYLITGCIADWVGRRPVLLFSIIFILIFGLTVALSVNVTMFSTLRFFEGFCLAGIILTLYALRIELCPPGKRFMITMVASFVAMAGQFLMPGLAALCRDWQVLQALIICPFLLMLLYWSIFPESLRWLMATQQFESAKRLILHFTQKNRMNPEGDIKGVIPELEKELSRRPKKVCIVKVVGTRNLWKNIVVLCVNSLTGYGIHHCFARSMMGHEVKVPLLENFYADYYTTASIALVSCLAMCVVVRFLGRRGGLLLFMILTALASLLQLGLLNLIGKYSQHPDSGMSDSVKDKFSIAFSIVGMFASHAVGSLSVFFCAEITPTVIRCVMGDTPGDAGFSEIKDESLAPGWCGINQRQLCLWLWTHQLRGS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:63027", "resource": "KEGG Pathway", "id": "hsa:63027", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "annotation": "Genetic variations in the SLC22A23 locus contribute to the susceptibility to inflammatory bowel disease in a small fraction of white patients.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "id": "NP_001273384.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "id": "NP_001273384.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q3UHH2-1", "protein_name": "Solute carrier family 22 member 23", "sequence": { "length": 689, "sequence": "MAIDRRREAAGSGAGRQPAPAEENGSLPPGDAAASAPLGGRAGSGSSAEIQPLPALHPSGGPHSSCCAATAAPSLLLLDYDGSVLPFLGGLGGGYQKTLVVLTWIPALFIGFSQFSDSFLLDQPDFWCRGAGKGTELAGATVTGRWGDMGNWTSPSATPFSTASWGTTSNRSNSSDTPPLPSPPGKGNNDSNCDCHAWDYGIRTGLIQNVVSKWDLVCDNTWKVHIAKFSLLVGLIFGYLITGCIADWVGRRPVLLFSTIFILIFGLTVALSVNVTMFSTLRFFEGFCLAGIILTLYALRIELCPPGKRFIITMVASFVAMAGQFLMPGLAALCRDWQVLQALIICPFLLMLLYWSIFPESLRWLMATQQFESAKKLILYLTQKNCVSPESDIKGVMPELEKELSRRPKKVCIVKVVGTRNLWKNIVVLCVNSLTGYGIHHCFARSMMGHEVKVPLLENFYADYYTMASIALASCLAMCLVVKFLGRRGGLLLFMILTALASLLQLGLLNLIGKYSQHPDSELQLKLAVGMSDSVKDKFSIAFSIVGMFASHAVGSLSVFFCAEITPTVIRCGGLGLVLASAGFGMLTAPIIELHNQKGYFLHHIIFACCTLICIICILLLPESRNQNLPENIANGEHYTRQPLLPHKKGEQPLLLTNAELKDYSGLHDVAAVGDGLPEGATANGMKTM" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/41457", "id": "41457", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q9QZG1-1", "protein_name": "Solute carrier family 22 member 23", "sequence": { "length": 689, "sequence": "MAIDRRREAAGSGAGRQPAPAEENGSLPPGDAAASAPLGGRAGSGGSAEIQPLPALHPSGGPHSSCCAAAAAPSLLLLDYDGSVLPFLGGLGGGYQKTLVVLTWIPALFIGFSQFSDSFLLDQPNFWCHGAGKGTELAGATVTGRWGDMGNWTSPSATPFSTASWGTTSNRSNSSDTPPLPSPPGKGNNDSNCECHAWDYGIRTGLVQNVVSKWDLVCDNAWKVHVAKFSLLVGLIFGYLITGCIADWVGRRPVLLFSVIFILIFGLTVALSVNVTMFSTLRFFEGFCLAGIILTLYALRIELCPPGKRFIITMVASFVAMAGQFLMPGLAALCRDWQVLQALIICPFLLMLLYWSIFPESLRWLMATQQFESAKKLILYLTQKNCVSPESDIKGVMPELEKELSRRPKKVCIVKVVGTRNLWKNIVVLCVNSLTGYGIHHCFARSMMGHEVKVPLLENFYADYYTMASIALASCLAMCLVVRFLGRRGGLLLFMILTALASLLQLGLLNLIGKYSQHPDSELQLKLAVGMSDSVKDKFSIAFSIVGMFASHAVGSLSVFFCAEITPTVIRCGGLGLVLASAGFGMLTAPIIELHNQKGYFLHHIIFACCTLICIICILLLPESRDQNLPENIANGEHYTRQPLLSHKKGEQPLLLTNAELKDYSGLHDVAAVGDGLSEGATANGMKTM" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/41457", "id": "41457", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "K", "alt_nt": "G", "chr_id": "6", "ref_nt": "C", "chr_pos": "3289835", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766431068", "id": "rs766431068", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766431068", "id": "rs766431068", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs766431068", "id": "rs766431068", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-sequon-loss" ], "sequence_mut": "N", "start_pos": 133, "keywords": [ "ebi", "germline" ], "end_pos": 133, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KGT->NGT)." }, { "sequence_org": "T", "alt_nt": "T", "chr_id": "6", "ref_nt": "G", "chr_pos": "3456138", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs932374924", "id": "rs932374924", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs932374924#frequency_tab", "id": "rs932374924", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-sequon-loss" ], "sequence_mut": "N", "start_pos": 141, "keywords": [ "ebi", "germline" ], "end_pos": 141, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TTT->NTT)." }, { "sequence_org": "S", "alt_nt": "T", "chr_id": "6", "ref_nt": "C", "chr_pos": "3456045", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763978100", "id": "rs763978100", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763978100", "id": "rs763978100", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs763978100", "id": "rs763978100", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-sequon-loss" ], "sequence_mut": "N", "start_pos": 172, "keywords": [ "ebi", "germline" ], "end_pos": 172, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNS->NNS)." }, { "sequence_org": "D", "start_pos": 193, "alt_nt": "C", "chr_id": "6", "ref_nt": "T", "chr_pos": "3456216", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A5C7", "id": "A1A5C7", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "G", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 193, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "A", "start_pos": 195, "alt_nt": "A", "chr_id": "6", "ref_nt": "C", "chr_pos": "3456211", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A5C7", "id": "A1A5C7", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 195, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "N", "alt_nt": "C", "chr_id": "6", "ref_nt": "T", "chr_pos": "3456490", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1357437143", "id": "rs1357437143", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1357437143#frequency_tab", "id": "rs1357437143", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_mut": "D", "start_pos": 24, "keywords": [ "ebi", "germline" ], "end_pos": 24, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->DGS)." }, { "sequence_org": "R", "start_pos": 340, "alt_nt": "T", "chr_id": "6", "ref_nt": "C", "chr_pos": "3324131", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A5C7", "id": "A1A5C7", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "Q", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 340, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "Y", "alt_nt": "G", "chr_id": "6", "ref_nt": "T", "chr_pos": "3287008", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775414659", "id": "rs775414659", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775414659", "id": "rs775414659", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs775414659#frequency_tab", "id": "rs775414659", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs775414659", "id": "rs775414659", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "S", "start_pos": 466, "keywords": [ "ebi", "germline" ], "end_pos": 466, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFY->NFS)." }, { "sequence_org": "S", "alt_nt": "T", "chr_id": "6", "ref_nt": "C", "chr_pos": "3283969", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778895519", "id": "rs778895519", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778895519", "id": "rs778895519", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs778895519#frequency_tab", "id": "rs778895519", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs778895519", "id": "rs778895519", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-sequon-loss" ], "sequence_mut": "N", "start_pos": 529, "keywords": [ "ebi", "germline" ], "end_pos": 529, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SDS->NDS)." }, { "sequence_org": "S", "start_pos": 537, "alt_nt": "A", "chr_id": "6", "ref_nt": "G", "chr_pos": "3284179", "disease": [ { "synonyms": [ { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A5C7", "id": "A1A5C7", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.1", "sequence_mut": "F", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.1%).", "end_pos": 537, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "F", "start_pos": 540, "alt_nt": "T", "chr_id": "6", "ref_nt": "A", "chr_pos": "3284170", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A5C7", "id": "A1A5C7", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "Y", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 540, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "G", "start_pos": 571, "alt_nt": "T", "chr_id": "6", "ref_nt": "C", "chr_pos": "3273638", "disease": [ { "synonyms": [ { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A5C7", "id": "A1A5C7", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.1", "sequence_mut": "E", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.1%).", "end_pos": 571, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "P", "alt_nt": "A", "chr_id": "6", "ref_nt": "G", "chr_pos": "3273261", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427046547", "id": "rs1427046547", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427046547", "id": "rs1427046547", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "S", "start_pos": 627, "keywords": [ "ebi", "germline" ], "end_pos": 627, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLP->NLS)." } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "ac": "NP_001273384.1", "name": "solute carrier family 22 member 23 isoform b", "summary": "SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5C7", "id": "A1A5C7", "database": "UniProtKB" } ], "name": "transmembrane transporter activity", "id": "GO:0022857" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5C7", "id": "A1A5C7", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006811", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5C7", "id": "A1A5C7", "database": "UniProtKB" } ], "name": "ion transport", "id": "GO:0006811" } ], "total": 1, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1A5C7", "type": "synonym", "resource": "RefSeq", "name": "C6orf85" }, { "url": "https://www.uniprot.org/uniprot/A1A5C7", "type": "synonym", "resource": "UniProtKB", "name": "C6orf85" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1A5C7", "type": "synonym", "resource": "RefSeq", "name": "SLC22A23" }, { "url": "https://www.uniprot.org/uniprot/A1A5C7", "type": "recommended", "resource": "UniProtKB", "name": "SLC22A23" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000137266", "id": "ENSG00000137266", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A5C7", "id": "A1A5C7", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC22A23", "id": "SLC22A23", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/63027", "id": "63027", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=21106", "id": "21106", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A1A5C7*", "id": "A1A5C7", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR005828", "id": "IPR005828", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR005829", "id": "IPR005829", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR020846", "id": "IPR020846", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036259", "id": "IPR036259", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:63027", "id": "hsa:63027", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/611697", "id": "611697", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A1A5C7", "id": "NX_A1A5C7", "database": "neXtProt" }, { "url": "http://www.orthodb.org/?query=292012at2759", "id": "292012at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00083", "id": "PF00083", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A1A5C7", "id": "A1A5C7", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A1A5C7", "id": "PR_A1A5C7", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273384.1", "id": "NP_001273384.1", "database": "RefSeq" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1A5C7", "id": "A1A5C7", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1A5C7", "id": "A1A5C7", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1A5C7", "id": "A1A5C7", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1A5C7", "id": "A1A5C7", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "Yes" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "recommended_name": { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1A5C7", "id": "A1A5C7", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "recommended_name": { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "lung adenocarcinoma", "description": "A lung cancer that derives_from epithelial cells of glandular origin." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1A5C7", "id": "A1A5C7", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1A5C7", "id": "A1A5C7", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" } ], "glycosylation": [ { "residue": "Asn", "site_category": "predicted", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5C7#ptm_processing", "id": "A1A5C7", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "position": 24, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "predicted", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5C7#ptm_processing", "id": "A1A5C7", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "position": 279, "glytoucan_ac": "", "type": "N-linked" } ], "mutagenesis": [], "disease": [], "phosphorylation": [], "mass": { "monoisotopic_mass": 73748.0, "chemical_mass": 73748.0 }, "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "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=ENSG00000137266", "id": "ENSG00000137266", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A1A5C7", "name": "SLC22A23", "locus": { "end_pos": 3268962, "strand": "-", "start_pos": 3457022, "chromosome": "6", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000137266", "id": "ENSG00000137266", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A1A5C7", "type": "recommended", "resource": "UniProtKB", "name": "Solute carrier family 22 member 23" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1A5C7", "type": "synonym", "resource": "RefSeq", "name": "ion transporter protein" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1A5C7", "type": "synonym", "resource": "RefSeq", "name": "solute carrier family 22 member 23 isoform b" } ] }