{ "uniprot_canonical_ac": "Q91X17-1", "uniprot_ac": "Q91X17", "uniprot_id": "UROM_MOUSE", "mass": { "chemical_mass": 70845.0, "monoisotopic_mass": 70845.0 }, "refseq": { "ac": "NP_001265534", "name": "uromodulin preproprotein", "summary": "This gene encodes a glycoprotein that is the most abundant protein in mammalian urine under physiological conditions. It is synthesized in the kidney as a glycosyl-phosphatidylinositol anchored protein and released into urine as a soluble form by proteolytic cleavage. It is thought to regulate water and salt balance in the thick ascending limb of Henle and to protect against urinary tract infection and calcium oxalate crystal formation. In mouse deficiency of this gene is associated with increased susceptibility to bacterial infections and formation of calcium crystals in kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" }, "gene_names": [ { "name": "Umod", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q91X17", "id": "Q91X17" }, { "name": "THP; Urehd1; urehr4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534", "id": "NP_001265534" }, { "name": "Umod", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534", "id": "NP_001265534" } ], "protein_names": [ { "name": "Uromodulin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q91X17" }, { "name": "THP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q91X17" }, { "name": "Tamm-Horsfall urinary glycoprotein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q91X17" }, { "name": "uromodulin preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534", "id": "NP_001265534" }, { "name": "uromucoid; Tamm-Horsfall urinary glycoprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534", "id": "NP_001265534" } ], "function": [ { "annotation": "Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water barrier permeability. May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelia.", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17#function" }, { "database": "UniProtKB", "id": "P07911", "url": "https://www.uniprot.org/uniprot/P07911#function" } ] }, { "annotation": "In the urine, may contribute to colloid osmotic pressure, retards passage of positively charged electrolytes and inhibits formation of liquid containing supersaturated salts and subsequent formation of salt crystals (PubMed:14871399, PubMed:15327412). Protects against urinary tract infections by binding to type 1 fimbriated E.coli (PubMed:11134021). Binds to the bacterial adhesin fimH which mediates the stable formation of bacterial aggregates, prevents the binding of E.coli to uroplakins UPK1A and UPK1B which act as urothelial receptors for type I fimbriae, and allows for pathogen clearance through micturation (By similarity). Also promotes aggregation of other bacteria including K.pneumoniae, P.aeruginosa and S.mitis and so may also protect against other uropathogens (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17#function" }, { "database": "PubMed", "id": "14871399", "url": "https://glygen.org/publication/PubMed/14871399" }, { "database": "PubMed", "id": "15327412", "url": "https://glygen.org/publication/PubMed/15327412" }, { "database": "UniProtKB", "id": "P07911", "url": "https://www.uniprot.org/uniprot/P07911#function" }, { "database": "PubMed", "id": "11134021", "url": "https://glygen.org/publication/PubMed/11134021" } ] }, { "annotation": "Potential THP defects, either quantitative or qualitative, could predispose the urinary bladder to bacterial infections", "evidence": [ { "database": "RefSeq", "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" }, { "database": "PubMed", "id": "14665435", "url": "https://glygen.org/publication/PubMed/14665435" } ] }, { "annotation": "THP is a critical urinary defense factor and its deficiency could be an important contributing factor in nephrolithiasis", "evidence": [ { "database": "RefSeq", "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" }, { "database": "PubMed", "id": "15327412", "url": "https://glygen.org/publication/PubMed/15327412" } ] }, { "annotation": "THP serves as a soluble receptor for type 1 fimbriated E. coli and helps eliminate bacteria from the urinary tract.", "evidence": [ { "database": "RefSeq", "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" }, { "database": "PubMed", "id": "14871399", "url": "https://glygen.org/publication/PubMed/14871399" } ] }, { "annotation": "This gene encodes a glycoprotein that is the most abundant protein in mammalian urine under physiological conditions. It is synthesized in the kidney as a glycosyl-phosphatidylinositol anchored protein and released into urine as a soluble form by proteolytic cleavage. It is thought to regulate water and salt balance in the thick ascending limb of Henle and to protect against urinary tract infection and calcium oxalate crystal formation. In mouse deficiency of this gene is associated with increased susceptibility to bacterial infections and formation of calcium crystals in kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" } ] }, { "annotation": "Urinary uromodulin is generated by a conserved C-terminal proteolytic cleavage and retains its entire ZP domain.", "evidence": [ { "database": "RefSeq", "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" }, { "database": "PubMed", "id": "18375198", "url": "https://glygen.org/publication/PubMed/18375198" } ] }, { "annotation": "Uromodulin Regulates Murine Aquaporin-2 Activity via Thick Ascending Limb-Collecting Duct Cross-Talk during Water Deprivation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" }, { "database": "PubMed", "id": "36012675", "url": "https://glygen.org/publication/PubMed/36012675" } ] } ], "disease": [ { "disease_id": "DOID:0060062", "recommended_name": { "id": "DOID:0060062", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060062", "name": "familial juvenile hyperuricemic nephropathy", "description": "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease." }, "synonyms": [ { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "familial juvenile hyperuricemic nephropathy type 1", "description": "A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age." }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "familial juvenile gouty nephropathy", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "familial nephropathy with gout", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "gouty nephropathy, familial juvenile", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "hyperuricemic nephropathy, familial juvenile", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "nephropathy, familial, with gout", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "ADTKD-UMOD", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "FJHN type 1", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "HNFJ1", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD familial juvenile hyperuricemic nephropathy", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD-associated FJHN", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD-associated familial juvenile hyperuricemic nephropathy", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD-related ADTKD", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD-related kidney disease", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "autosomal dominant medullary cystic kidney disease type 2", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "autosomal dominant medullary cystic kidney disease with hyperuricemia", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "glomerulocystic kidney disease with hyperuricemia and isosthenuria", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "hyperuricemic nephropathy, familial juvenile, 1", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "hyperuricemic nephropathy, familial juvenile, type 1", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "medullary cystic kidney disease 2", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "medullary cystic kidney disease type 2", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "medullary cystic kidney disease type II", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "tubulointerstitial kidney disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "uromodulin storage disease", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "uromodulin-associated kidney disease", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "ADMCKD2", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "MCKD2", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "UMOD-related autosomal dominant tubulointerstitial kidney disease", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "familial juvenile hyperuricaemic nephropathy", "description": "" }, { "id": "MONDO:0008073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008073", "name": "medullary cystic kidney disease 2, autosomal dominant", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "familial juvenile hyperuricemic nephropathy type 2", "description": "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "ADTKD-REN", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "FJHN type 2", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "REN familial juvenile hyperuricemic nephropathy", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "REN-associated FJHN", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "REN-associated familial juvenile hyperuricemic nephropathy", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "REN-associated kidney disease", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "autosomal dominant tubulointerstitial kidney disease due to mutations in REN", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "familial juvenile hyperuricemic nephropathy caused by mutation in REN", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "familial juvenile hyperuricemic nephropathy type 2", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "hyperuricemic nephropathy, familial juvenile, type 2", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "tubulointerstitial kidney disease, autosomal dominant, 4", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "HNFJ2", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "REN-related autosomal dominant tubulointerstitial kidney disease", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "early-onset hyperuricemia, Anemia, and progressive kidney failure", "description": "" }, { "id": "MONDO:0013128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013128", "name": "hyperuricemic nephropathy, familial juvenile, 2", "description": "" }, { "id": "MONDO:0013643", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013643", "name": "hyperuricemic nephropathy, familial juvenile type 3", "description": "" }, { "id": "MONDO:0013643", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013643", "name": "HNFJ3", "description": "" }, { "id": "MONDO:0013643", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013643", "name": "hyperuricemic nephropathy, familial juvenile, 3", "description": "" }, { "id": "MIM:162000", "resource": "MIM", "url": "https://www.omim.org/entry/162000", "name": "Tubulointerstitial kidney disease, autosomal dominant, 1", "description": "Tubulointerstitial kidney disease, autosomal dominant, 1" }, { "id": "MIM:613092", "resource": "MIM", "url": "https://www.omim.org/entry/613092", "name": "Tubulointerstitial kidney disease, autosomal dominant, 4", "description": "Tubulointerstitial kidney disease, autosomal dominant, 4" } ], "evidence": [ { "id": "0060062", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060062" } ] }, { "disease_id": "DOID:557", "recommended_name": { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney." }, "synonyms": [ { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "impaired renal function disease", "description": "" }, { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "nephropathy", "description": "" } ], "evidence": [ { "id": "557", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:557" } ] } ], "snv": [ { "evidence": [ { "id": "rs3388925489", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388925489" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 397, "end_pos": 397, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->DET).", "chr_id": "7", "chr_pos": "119070702", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3388899100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388899100" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 397, "end_pos": 397, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->IET).", "chr_id": "7", "chr_pos": "119070701", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3388944960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388944960" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 404, "end_pos": 404, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNT->NNT).", "chr_id": "7", "chr_pos": "119070680", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3398565547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398565547" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 76, "end_pos": 76, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "7", "chr_pos": "119076538", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N76", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Umod", "url": "https://www.uniprot.org/uniprot/Q91X17", "locus": { "chromosome": "7", "start_pos": 119061934, "end_pos": 119078505, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000030963", "url": "https://www.ensembl.org/id/ENSMUSG00000030963" } ] } } ], "crossref": [ { "id": "ENSMUSG00000030963", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000030963", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00054", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "22242", "url": "https://www.ncbi.nlm.nih.gov/gene/22242", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "GPDB0007072", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0007072", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "Q91X17", "url": 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"id": "IPR018097", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018097", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024731", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024731", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042235", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042235", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:22242", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:22242", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "102674", "url": "http://www.informatics.jax.org/marker/MGI:102674", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "PPECYLA", "url": "https://omabrowser.org/oma/group/PPECYLA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5293157at2759", "url": "http://www.orthodb.org/?query=5293157at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14002", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14002", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14002:SF40", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14002:SF40", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24039", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24039", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24039:SF28", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24039:SF28", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00100", "url": "http://pfam.xfam.org/family/PF00100", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07645", "url": "http://pfam.xfam.org/family/PF07645", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12947", "url": "http://pfam.xfam.org/family/PF12947", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q91X17", "url": "http://purl.obolibrary.org/obo/PR_Q91X17", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-446203", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-446203", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A140LI10", "url": "https://www.uniprot.org/uniprot/A0A140LI10", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140LI10-1", "url": "https://www.uniprot.org/uniprot/A0A140LI10-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140LJ15", "url": "https://www.uniprot.org/uniprot/A0A140LJ15", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140LJ15-1", "url": "https://www.uniprot.org/uniprot/A0A140LJ15-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140LJ95", "url": "https://www.uniprot.org/uniprot/A0A140LJ95", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140LJ95-1", "url": "https://www.uniprot.org/uniprot/A0A140LJ95-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q91X17-1", "url": "https://www.uniprot.org/uniprot/Q91X17-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGIPLTWMLLVMMVTSWFTLAEASNSTEARRCSECHNNATCTVDGVVTTCSCQTGFTGDGLVCEDMDECATPWTHNCSNSSCVNTPGSFKCSCQDGFRLTPELSCTDVDECSEQGLSNCHALATCVNTEGDYLCVCPEGFTGDGWYCECSPGSCEPGLDCLPQGPDGKLVCQDPCNTYETLTEYWRSTEYGVGYSCDAGLHGWYRFTGQGGVRMAETCVPVLRCNTAAPMWLNGSHPSSSEGIVSRTACAHWSDQCCRWSTEIQVKACPGGFYIYNLTAPPECNLAYCTDPSSVEGTCEECRVDEDCISDNGRWRCQCKQDSNITDVSQLEYRLECGANDIKMSLRKCQLQSLGFMNVFMYLNDRQCSGFSESDERDWMSIVTPARNGPCGTVLRRNETHATYSNTLYLANAIIIRDIIIRMNFECSYPLDMKVSLKTSLQPMVSALNISLGGTGKFTVRMALFQSPTYTQPHQGPSVMLSTEAFLYVGTMLDGGDLSRFVLLMTNCYATPSSNSTDPVKYFIIQDSCPRTEDTTIQVTENGESSQARFSVQMFRFAGNYDLVYLHCEVYLCDSTSEQCKPTCSGTRFRSGNFIDQTRVLNLGPITRQGVQASVSKAASSNLRLLSIWLLLFPSATLIFMVQ", "length": 642, "header": "sp|Q91X17-1|UROM_MOUSE Isoform 1 of Uromodulin OS=Mus musculus OX=10090 GN=Umod PE=1 SV=1 CANONICAL=Q91X17-1" }, "isoforms": [ { "isoform_ac": "A0A140LI10-1", "url": "", "sequence": { "sequence": "MGIPLTWMLLVMMVTSWFTLAEASNSTEARRCSECHNNATCTVDGVVTTCSCQTGFTGDGLVCEDMDECATPWTHNCSNSSCVNTPGSFKCSCQDGFRLTPELSCTDVDECSEQGLSNCHALATCVNTEGDYLCVCPEGFTGDGWYCECSPGSCEPGLDCLPQGPDGKLVCQDPCNTYETLTEYWRS", "length": 187, "header": "tr|A0A140LI10-1|UROM_MOUSE Computationally mapped isoform of Uromodulin OS=Mus musculus OX=10090 GN=Umod PE=1 SV=1 CANONICAL=Q91X17-1" }, "locus": { "chromosome": "7", "start_pos": 119077509, "end_pos": 119076204, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000207460.2", "url": "https://www.ensembl.org/id/ENSMUST00000207460.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000146628.2", "url": "https://www.ensembl.org/id/ENSMUSP00000146628.2" } ] } }, { "isoform_ac": "A0A140LJ15-1", "url": "", "sequence": { "sequence": "XSTEARRCSECHNNATCTVDGVVTTCSCQTGFTGDGLVCEDMDECATPWTHNCSNSSCVNTPGLPRWLLYLQLDSAP", "length": 77, "header": "tr|A0A140LJ15-1|A0A140LJ15_MOUSE Computationally mapped isoform of Uromodulin OS=Mus musculus OX=10090 GN=Umod PE=4 SV=1 CANONICAL=Q91X17-1" }, "locus": { "chromosome": "7", "start_pos": 119077436, "end_pos": 119075922, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000207378.2", "url": "https://www.ensembl.org/id/ENSMUST00000207378.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000147039.2", "url": "https://www.ensembl.org/id/ENSMUSP00000147039.2" } ] } }, { "isoform_ac": "A0A140LJ95-1", "url": "", "sequence": { "sequence": "MGIPLTWMLLVMMVTSWFTLAEASNSTEARRCSECHNNATCTVDGVVTTCSCQTGFTGDGLVCEDMDECATPWTHNCSNSSCVNTPG", "length": 87, "header": "tr|A0A140LJ95-1|UROM_MOUSE Computationally mapped isoform of Uromodulin OS=Mus musculus OX=10090 GN=Umod PE=1 SV=1 CANONICAL=Q91X17-1" }, "locus": { "chromosome": "7", "start_pos": 119077509, "end_pos": 119076504, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000207261.2", "url": "https://www.ensembl.org/id/ENSMUST00000207261.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000147128.2", "url": "https://www.ensembl.org/id/ENSMUSP00000147128.2" } ] } }, { "isoform_ac": "Q91X17-1", "url": "", "sequence": { "sequence": "MGIPLTWMLLVMMVTSWFTLAEASNSTEARRCSECHNNATCTVDGVVTTCSCQTGFTGDGLVCEDMDECATPWTHNCSNSSCVNTPGSFKCSCQDGFRLTPELSCTDVDECSEQGLSNCHALATCVNTEGDYLCVCPEGFTGDGWYCECSPGSCEPGLDCLPQGPDGKLVCQDPCNTYETLTEYWRSTEYGVGYSCDAGLHGWYRFTGQGGVRMAETCVPVLRCNTAAPMWLNGSHPSSSEGIVSRTACAHWSDQCCRWSTEIQVKACPGGFYIYNLTAPPECNLAYCTDPSSVEGTCEECRVDEDCISDNGRWRCQCKQDSNITDVSQLEYRLECGANDIKMSLRKCQLQSLGFMNVFMYLNDRQCSGFSESDERDWMSIVTPARNGPCGTVLRRNETHATYSNTLYLANAIIIRDIIIRMNFECSYPLDMKVSLKTSLQPMVSALNISLGGTGKFTVRMALFQSPTYTQPHQGPSVMLSTEAFLYVGTMLDGGDLSRFVLLMTNCYATPSSNSTDPVKYFIIQDSCPRTEDTTIQVTENGESSQARFSVQMFRFAGNYDLVYLHCEVYLCDSTSEQCKPTCSGTRFRSGNFIDQTRVLNLGPITRQGVQASVSKAASSNLRLLSIWLLLFPSATLIFMVQ", "length": 642, "header": "sp|Q91X17-1|UROM_MOUSE Isoform 1 of Uromodulin OS=Mus musculus OX=10090 GN=Umod PE=1 SV=1 CANONICAL=Q91X17-1" }, "locus": { "chromosome": "7", "start_pos": 119077509, "end_pos": 119062443, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000033263", "url": "https://www.ensembl.org/id/ENSMUST00000033263" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000033263", "url": "https://www.ensembl.org/id/ENSMUSP00000033263" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 233, "start_aa": "Asn", "end_pos": 233, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn233", "evidence": [ { "id": "Q91X17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91X17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 25, "start_aa": "Asn", "end_pos": 25, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn25", "evidence": [ { "id": "Q91X17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91X17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 276, "start_aa": "Asn", "end_pos": 276, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn276", "evidence": [ { "id": "Q91X17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91X17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 323, "start_aa": "Asn", "end_pos": 323, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn323", "evidence": [ { "id": "Q91X17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91X17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 38, "start_aa": "Asn", "end_pos": 38, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "evidence": [ { "id": "Q91X17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91X17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 397, "start_aa": "Asn", "end_pos": 397, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn397", "evidence": [ { "id": "Q91X17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91X17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 448, "start_aa": "Asn", "end_pos": 448, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn448", "evidence": [ { "id": "Q91X17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91X17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 514, "start_aa": "Asn", "end_pos": 514, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn514", "evidence": [ { "id": "Q91X17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91X17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 76, "start_aa": "Asn", "end_pos": 76, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn76", "evidence": [ { "id": "Q91X17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91X17#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 79, "start_aa": "Asn", "end_pos": 79, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn79", "evidence": [ { "id": "Q91X17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91X17#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Tamm-Horsfall protein binds to type 1 fimbriated Escherichia coli and prevents E. coli from binding to uroplakin Ia and Ib receptors.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Pak J., Wu X.R., Hasty D.L., Zhang Z.T., Pu Y.", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "reference": [ { "type": "PubMed", "id": "11134021", "url": "https://glygen.org/publication/PubMed/11134021" } ] }, { "title": "The ZP domain is a conserved module for polymerization of extracellular proteins.", "journal": "Nat. Cell Biol.", "date": "2002", "authors": "Jovine L, Qi H, Williams Z, Litscher E, Wassarman PM", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "reference": [ { "type": "PubMed", "id": "12021773", "url": "https://glygen.org/publication/PubMed/12021773" } ] }, { "title": "Ablation of the Tamm-Horsfall protein gene increases susceptibility of mice to bladder colonization by type 1-fimbriated Escherichia coli.", "journal": "American journal of physiology. Renal physiology", "date": "2004", "authors": "Mo L, Zhu XH, Huang HY, Shapiro E, Hasty DL, Wu XR", "evidence": [ { "database": "RefSeq", "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" } ], "reference": [ { "type": "PubMed", "id": "14665435", "url": "https://glygen.org/publication/PubMed/14665435" } ] }, { "title": "Tamm-Horsfall protein knockout mice are more prone to urinary tract infection: rapid communication.", "journal": "Kidney Int.", "date": "2004", "authors": "Bates JM, Raffi HM, Prasadan K, Mascarenhas R, Laszik Z, Maeda N, Hultgren SJ, Kumar S", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" }, { "database": "RefSeq", "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" } ], "reference": [ { "type": "PubMed", "id": "14871399", "url": "https://glygen.org/publication/PubMed/14871399" } ] }, { "title": "Tamm-Horsfall protein is a critical renal defense factor protecting against calcium oxalate crystal formation.", "journal": "Kidney Int.", "date": "2004", "authors": "Mo L, Huang HY, Zhu XH, Shapiro E, Hasty DL, Wu XR", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" }, { "database": "RefSeq", "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" } ], "reference": [ { "type": "PubMed", "id": "15327412", "url": "https://glygen.org/publication/PubMed/15327412" } ] }, { "title": "Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2008", "authors": "Santambrogio S, Cattaneo A, Bernascone I, Schwend T, Jovine L, Bachi A, Rampoldi L", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" }, { "database": "RefSeq", "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" } ], "reference": [ { "type": "PubMed", "id": "18375198", "url": "https://glygen.org/publication/PubMed/18375198" } ] }, { "title": "Uromodulin Regulates Murine Aquaporin-2 Activity via Thick Ascending Limb-Collecting Duct Cross-Talk during Water Deprivation.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Takata T, Hamada S, Mae Y, Iyama T, Ogihara R, Seno M, Nakamura K, Takata M, Sugihara T, Isomoto H", "evidence": [ { "database": "RefSeq", "id": "NP_001265534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265534" } ], "reference": [ { "type": "PubMed", "id": "36012675", "url": "https://glygen.org/publication/PubMed/36012675" } ] }, { "title": "Nucleotide sequence and peptide motifs of mouse uromodulin (Tamm-Horsfall protein) -- the most abundant protein in mammalian urine.", "journal": "Biochim. Biophys. Acta", "date": "1995", "authors": "Yu H., Kumar S., Badgett A., Bates J., Dell M., Prasadan K., Sukhatme V.", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "reference": [ { "type": "PubMed", "id": "7873609", "url": "https://glygen.org/publication/PubMed/7873609" } ] } ], "pathway": [ { "id": "mmu:22242", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:22242", "resource": "KEGG Pathway" }, { "id": "R-MMU-446203", "name": "Asparagine N-linked glycosylation", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-446203", "resource": "Reactome", "description": "Asparagine N-linked glycosylation" } ], "orthologs": [ { "uniprot_canonical_ac": "P07911-1", "protein_name": "Uromodulin", "gene_name": "UMOD", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MGQPSLTWMLMVVVASWFITTAATDTSEARWCSECHSNATCTEDEAVTTCTCQEGFTGDGLTCVDLDECAIPGAHNCSANSSCVNTPGSFSCVCPEGFRLSPGLGCTDVDECAEPGLSHCHALATCVNVVGSYLCVCPAGYRGDGWHCECSPGSCGPGLDCVPEGDALVCADPCQAHRTLDEYWRSTEYGEGYACDTDLRGWYRFVGQGGARMAETCVPVLRCNTAAPMWLNGTHPSSDEGIVSRKACAHWSGHCCLWDASVQVKACAGGYYVYNLTAPPECHLAYCTDPSSVEGTCEECSIDEDCKSNNGRWHCQCKQDFNITDISLLEHRLECGANDMKVSLGKCQLKSLGFDKVFMYLSDSRCSGFNDRDNRDWVSVVTPARDGPCGTVLTRNETHATYSNTLYLADEIIIRDLNIKINFACSYPLDMKVSLKTALQPMVSALNIRVGGTGMFTVRMALFQTPSYTQPYQGSSVTLSTEAFLYVGTMLDGGDLSRFALLMTNCYATPSSNATDPLKYFIIQDRCPHTRDSTIQVVENGESSQGRFSVQMFRFAGNYDLVYLHCEVYLCDTMNEKCKPTCSGTRFRSGSVIDQSRVLNLGPITRKGVQATVSRAFSSLGLLKVWLPLLLSATLTLTFQ", "length": 640 }, "evidence": [ { "id": "45231020", "url": "http://www.informatics.jax.org/homology/45231020", "database": "MGI" }, { "id": "Q91X17", "url": "https://omabrowser.org/oma/group/Q91X17/", "database": "OMA" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P27590-1", "protein_name": "Uromodulin", "gene_name": "Umod", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGQLLSLTWLLLVMVVTPWFTVAGANDSPEARRCSECHDNATCVLDGVVTTCSCQAGFTGDGLVCEDIDECATPWTHNCSNSICMNTLGSYECSCQDGFRLTPGLGCIDVNECTEQGLSNCHSLATCVNTEGSYSCVCPKGYRGDGWYCECSPGFCEPGLDCLPQGPSGKLVCQDPCNVYETLTEYWRSTDYGAGYSCDSDMHGWYRFTGQGGVRMAETCVPVLRCNTAAPMWLNGSHPSSREGIVSRTACAHWSDHCCLWSTEIQVKACPGGFYVYNLTEPPECNLAYCTDPSSVEGTCEECGVDEDCVSDNGRWRCQCKQDFNVTDVSLLEHRLECEANEIKISLSKCQLQSLGFMKVFMYLNDRQCSGFSERGERDWMSIVTPARDGPCGTVLRRNETHATYSNTLYLASEIIIRDINIRINFECSYPLDMKVSLKTSLQPMVSALNISLGGTGKFTVQMALFQNPTYTQPYQGPSVMLSTEAFLYVGTMLDGGDLSRFVLLMTNCYATPSSNSTDPVKYFIIQDRCPHTEDTTIQVTENGESSQARFSIQMFRFAGNSDLVYLHCEVYLCDTMSEQCKPTCSGTRYRSGNFIDQTRVLNLGPITRQGVQASVSKAASSNLGFLSIWLLLFLSATLTLMVH", "length": 644 }, "evidence": [ { "id": "45231020", "url": "http://www.informatics.jax.org/homology/45231020", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "IgG binding", "id": "GO:0019864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019864", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 60, "go_terms": [ { "name": "loop of Henle development", "id": "GO:0072070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072070", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "urea transmembrane transport", "id": "GO:0071918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071918", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "regulation of protein transport", "id": "GO:0051223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051223", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "intracellular chloride ion homeostasis", "id": "GO:0030644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030644", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "metanephric ascending thin limb development", "id": "GO:0072218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072218", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "renal water homeostasis", "id": "GO:0003091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003091", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "intracellular sodium ion homeostasis", "id": "GO:0006883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006883", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "peptidyl-threonine phosphorylation", "id": "GO:0018107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018107", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "response to water deprivation", "id": "GO:0009414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009414", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "regulation of urine volume", "id": "GO:0035809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035809", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "ubiquitin-dependent ERAD pathway", "id": "GO:0030433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030433", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "micturition", "id": "GO:0060073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060073", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "phosphate ion homeostasis", "id": "GO:0055062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055062", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "potassium ion homeostasis", "id": "GO:0055075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055075", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "sodium ion homeostasis", "id": "GO:0055078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055078", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "collecting duct development", "id": "GO:0072044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072044", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "glomerular filtration", "id": "GO:0003094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003094", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "multicellular organismal-level water homeostasis", "id": "GO:0050891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050891", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "protein transport into plasma membrane raft", "id": "GO:0044861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044861", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "chloride ion homeostasis", "id": "GO:0055064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055064", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "metanephric distal convoluted tubule development", "id": "GO:0072221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072221", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "monoatomic ion homeostasis", "id": "GO:0050801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050801", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "chemical homeostasis", "id": "GO:0048878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048878", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "metanephric thick ascending limb development", "id": "GO:0072233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072233", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "chaperone-mediated protein folding", "id": "GO:0061077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061077", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "cellular response to unfolded protein", "id": "GO:0034620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034620", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "neutrophil migration", "id": "GO:1990266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990266", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "renal sodium ion absorption", "id": "GO:0070294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070294", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "multicellular organismal response to stress", "id": "GO:0033555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033555", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "multicellular organismal-level homeostasis", "id": "GO:0048871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048871", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "urate transport", "id": "GO:0015747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015747", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "intracellular phosphate ion homeostasis", "id": "GO:0030643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030643", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "protein localization to vacuole", "id": "GO:0072665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072665", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "organ or tissue specific immune response", "id": "GO:0002251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002251", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "renal urate salt excretion", "id": "GO:0097744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097744", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "citric acid secretion", "id": "GO:0046720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046720", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "juxtaglomerular apparatus development", "id": "GO:0072051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072051", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "connective tissue replacement", "id": "GO:0097709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097709", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "antibacterial innate immune response", "id": "GO:0140367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140367", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 12, "go_terms": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 233, "end_pos": 235, "annotation": "n_glycosylation_sequon" }, { "start_pos": 25, "end_pos": 27, "annotation": "n_glycosylation_sequon" }, { "start_pos": 276, "end_pos": 278, "annotation": "n_glycosylation_sequon" }, { "start_pos": 323, "end_pos": 325, "annotation": "n_glycosylation_sequon" }, { "start_pos": 38, "end_pos": 40, "annotation": "n_glycosylation_sequon" }, { "start_pos": 397, "end_pos": 399, "annotation": "n_glycosylation_sequon" }, { "start_pos": 448, "end_pos": 450, "annotation": "n_glycosylation_sequon" }, { "start_pos": 514, "end_pos": 516, "annotation": "n_glycosylation_sequon" }, { "start_pos": 76, "end_pos": 78, "annotation": "n_glycosylation_sequon" }, { "start_pos": 79, "end_pos": 81, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "Q91X17", "url": "https://www.uniprot.org/uniprot/Q91X17" }, { "database": "PubMed", "id": "12021773", "url": "https://glygen.org/publication/PubMed/12021773" }, { "database": "PubMed", "id": "26673890", "url": "https://glygen.org/publication/PubMed/26673890" } ] }, { "annotation": "Proteolytically cleaved at a conserved C-terminal proteolytic cleavage site to generate the secreted form found in urine (PubMed:18375198). 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