UMOD | ENSG00000169344 | NCBI 7369

Details for: UMOD

Gene ID: 7369

Symbol: UMOD

Ensembl ID: ENSG00000169344

Description: uromodulin

Associated with

Asparagine n-linked glycosylation
(R-HSA-446203)
Metabolism of proteins
(R-HSA-392499)
Post-translational protein modification
(R-HSA-597592)
Antibacterial innate immune response
(GO:0140367)
Apical plasma membrane
(GO:0016324)
Apoptotic signaling pathway
(GO:0097190)
Autophagy
(GO:0006914)
Basolateral plasma membrane
(GO:0016323)
Calcium ion binding
(GO:0005509)
Cell surface
(GO:0009986)
Cellular defense response
(GO:0006968)
Cellular response to unfolded protein
(GO:0034620)
Chaperone-mediated protein folding
(GO:0061077)
Ciliary membrane
(GO:0060170)
Cilium
(GO:0005929)
Citric acid secretion
(GO:0046720)
Collecting duct development
(GO:0072044)
Connective tissue replacement
(GO:0097709)
Defense response to gram-negative bacterium
(GO:0050829)
Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum organization
(GO:0007029)
Erad pathway
(GO:0036503)
Extracellular exosome
(GO:0070062)
Extracellular space
(GO:0005615)
Extrinsic component of membrane
(GO:0019898)
Glomerular filtration
(GO:0003094)
Golgi lumen
(GO:0005796)
Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
(GO:0007157)
Igg binding
(GO:0019864)
Inflammatory response
(GO:0006954)
Intracellular calcium ion homeostasis
(GO:0006874)
Intracellular chloride ion homeostasis
(GO:0030644)
Intracellular phosphate ion homeostasis
(GO:0030643)
Intracellular sodium ion homeostasis
(GO:0006883)
Juxtaglomerular apparatus development
(GO:0072051)
Leukocyte cell-cell adhesion
(GO:0007159)
Lipid metabolic process
(GO:0006629)
Membrane
(GO:0016020)
Metanephric ascending thin limb development
(GO:0072218)
Metanephric distal convoluted tubule development
(GO:0072221)
Metanephric thick ascending limb development
(GO:0072233)
Micturition
(GO:0060073)
Multicellular organismal response to stress
(GO:0033555)
Negative regulation of cell population proliferation
(GO:0008285)
Neutrophil migration
(GO:1990266)
Organ or tissue specific immune response
(GO:0002251)
Potassium ion homeostasis
(GO:0055075)
Protein binding
(GO:0005515)
Protein localization to vacuole
(GO:0072665)
Protein transport into plasma membrane raft
(GO:0044861)
Regulation of blood pressure
(GO:0008217)
Regulation of protein transport
(GO:0051223)
Regulation of urine volume
(GO:0035809)
Renal sodium ion absorption
(GO:0070294)
Renal urate salt excretion
(GO:0097744)
Renal water homeostasis
(GO:0003091)
Response to lipopolysaccharide
(GO:0032496)
Response to water deprivation
(GO:0009414)
Response to xenobiotic stimulus
(GO:0009410)
Rna splicing
(GO:0008380)
Side of membrane
(GO:0098552)
Spindle pole
(GO:0000922)
Tumor necrosis factor-mediated signaling pathway
(GO:0033209)
Urate transport
(GO:0015747)
Urea transmembrane transport
(GO:0071918)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: 17.9973
Cell Significance Index: 13195.5800
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: 4.0811
Cell Significance Index: 323.2200
Cell Name: epithelial cell of exocrine pancreas (CL1001433)
Fold Change: 2.9071
Cell Significance Index: 1.4600
Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: 2.8416
Cell Significance Index: 23.9600
Cell Name: columnar/cuboidal epithelial cell (CL0000075)
Fold Change: 1.6427
Cell Significance Index: 6.2900
Cell Name: glomerular capillary endothelial cell (CL1001005)
Fold Change: 1.5321
Cell Significance Index: 5.7100
Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 0.9347
Cell Significance Index: 22.6400
Cell Name: acinar cell (CL0000622)
Fold Change: 0.8157
Cell Significance Index: 10.2500
Cell Name: kidney collecting duct cell (CL1001225)
Fold Change: 0.7135
Cell Significance Index: 2.4500
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.6120
Cell Significance Index: 6.3400
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.6034
Cell Significance Index: 6.2500
Cell Name: macula densa epithelial cell (CL1000850)
Fold Change: 0.5879
Cell Significance Index: 2.1600
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 0.5517
Cell Significance Index: 4.1300
Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 0.4663
Cell Significance Index: 4.2500
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 0.4219
Cell Significance Index: 4.9000
Cell Name: renal principal cell (CL0005009)
Fold Change: 0.3931
Cell Significance Index: 4.1600
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.2652
Cell Significance Index: 2.3900
Cell Name: kidney loop of Henle epithelial cell (CL1000909)
Fold Change: 0.2232
Cell Significance Index: 2.0800
Cell Name: epithelial cell of pancreas (CL0000083)
Fold Change: 0.1863
Cell Significance Index: 3.0700
Cell Name: glomerular endothelial cell (CL0002188)
Fold Change: 0.1395
Cell Significance Index: 0.9700
Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: 0.1217
Cell Significance Index: 3.0300
Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: 0.1163
Cell Significance Index: 1.6700
Cell Name: renal intercalated cell (CL0005010)
Fold Change: 0.0864
Cell Significance Index: 0.6900
Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 0.0735
Cell Significance Index: 1.2600
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.0519
Cell Significance Index: 0.5600
Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 0.0428
Cell Significance Index: 0.4500
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0393
Cell Significance Index: 6.7100
Cell Name: erythroid progenitor cell (CL0000038)
Fold Change: 0.0359
Cell Significance Index: 0.4700
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 0.0357
Cell Significance Index: 0.3400
Cell Name: thymocyte (CL0000893)
Fold Change: 0.0356
Cell Significance Index: 0.4500
Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 0.0222
Cell Significance Index: 0.2300
Cell Name: subcutaneous adipocyte (CL0002521)
Fold Change: 0.0207
Cell Significance Index: 0.0900
Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
Fold Change: 0.0182
Cell Significance Index: 0.2200
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.0146
Cell Significance Index: 0.3900
Cell Name: megakaryocyte (CL0000556)
Fold Change: 0.0068
Cell Significance Index: 0.1100
Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
Fold Change: 0.0068
Cell Significance Index: 0.0700
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.0047
Cell Significance Index: 0.9300
Cell Name: secretory cell (CL0000151)
Fold Change: 0.0043
Cell Significance Index: 0.0300
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.0025
Cell Significance Index: 0.5100
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.0010
Cell Significance Index: 0.1100
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 0.0009
Cell Significance Index: 0.0100
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0008
Cell Significance Index: 0.3000
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.0008
Cell Significance Index: 1.0300
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0004
Cell Significance Index: 0.6600
Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0004
Cell Significance Index: 0.7600
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0004
Cell Significance Index: 0.6600
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 0.0000
Cell Significance Index: 0.0000
Cell Name: hepatoblast (CL0005026)
Fold Change: -0.0006
Cell Significance Index: -0.0100
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0006
Cell Significance Index: -0.4600
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0007
Cell Significance Index: -0.3800
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0009
Cell Significance Index: -0.5500
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0009
Cell Significance Index: -0.1000
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0012
Cell Significance Index: -0.3500
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: -0.0019
Cell Significance Index: -0.0200
Cell Name: kidney loop of Henle ascending limb epithelial cell (CL1001016)
Fold Change: -0.0021
Cell Significance Index: -0.0100
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0026
Cell Significance Index: -0.5400
Cell Name: photoreceptor cell (CL0000210)
Fold Change: -0.0028
Cell Significance Index: -0.0400
Cell Name: lactocyte (CL0002325)
Fold Change: -0.0041
Cell Significance Index: -0.5400
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.0042
Cell Significance Index: -0.1200
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0043
Cell Significance Index: -0.3200
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0045
Cell Significance Index: -2.0300
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0051
Cell Significance Index: -3.2100
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.0054
Cell Significance Index: -0.5600
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: -0.0055
Cell Significance Index: -0.0600
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.0061
Cell Significance Index: -0.4100
Cell Name: lens fiber cell (CL0011004)
Fold Change: -0.0062
Cell Significance Index: -0.2000
Cell Name: syncytiotrophoblast cell (CL0000525)
Fold Change: -0.0063
Cell Significance Index: -0.0600
Cell Name: leukocyte (CL0000738)
Fold Change: -0.0077
Cell Significance Index: -0.1300
Cell Name: kidney interstitial alternatively activated macrophage (CL1000695)
Fold Change: -0.0078
Cell Significance Index: -0.0800
Cell Name: OFF-bipolar cell (CL0000750)
Fold Change: -0.0079
Cell Significance Index: -0.0700
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0087
Cell Significance Index: -0.8900
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.0089
Cell Significance Index: -0.5000
Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.0091
Cell Significance Index: -0.2000
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.0099
Cell Significance Index: -0.4400
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: -0.0105
Cell Significance Index: -0.1200
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.0110
Cell Significance Index: -0.1500
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.0111
Cell Significance Index: -0.5200
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.0114
Cell Significance Index: -0.2900
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.0120
Cell Significance Index: -0.4200
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.0121
Cell Significance Index: -0.3900
Cell Name: late promyelocyte (CL0002151)
Fold Change: -0.0121
Cell Significance Index: -0.0800
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.0122
Cell Significance Index: -0.4000
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: -0.0126
Cell Significance Index: -0.1800
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.0132
Cell Significance Index: -0.5000
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0134
Cell Significance Index: -0.4700
Cell Name: glial cell (CL0000125)
Fold Change: -0.0137
Cell Significance Index: -0.1500
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0138
Cell Significance Index: -0.8500
Cell Name: cardiac muscle cell (CL0000746)
Fold Change: -0.0142
Cell Significance Index: -0.2100
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: -0.0146
Cell Significance Index: -0.2100
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.0149
Cell Significance Index: -0.3100
Cell Name: erythroblast (CL0000765)
Fold Change: -0.0159
Cell Significance Index: -0.1900
Cell Name: preadipocyte (CL0002334)
Fold Change: -0.0164
Cell Significance Index: -0.3200
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0165
Cell Significance Index: -0.4400
Cell Name: pro-B cell (CL0000826)
Fold Change: -0.0167
Cell Significance Index: -0.1800
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.0170
Cell Significance Index: -0.4300
Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
Fold Change: -0.0173
Cell Significance Index: -0.2300
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0177
Cell Significance Index: -2.5700
Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.0179
Cell Significance Index: -0.5100
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0181
Cell Significance Index: -3.2600
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.0184
Cell Significance Index: -0.3900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics:** UMOD is primarily expressed in the kidney, particularly in the loop of Henle, distal convoluted tubule, and collecting duct. It is a large protein, consisting of 66 C-terminal repeats, which are crucial for its function and stability. UMOD is secreted into the urine, where it serves as a first line of defense against pathogens and toxins. Its ability to bind calcium ions, phosphorus ions, and potassium ions makes it an essential component of the renal physiology. **Pathways and Functions:** UMOD is involved in various cellular processes, including: 1. **Antibacterial innate immune response:** UMOD is recognized as a pattern-associated molecular pattern (PAMP) by the innate immune system, triggering an antibacterial response and promoting the clearance of pathogens from the urinary tract. 2. **Apoptotic signaling pathway:** UMOD has been shown to interact with the apoptotic machinery, regulating the death of infected cells and preventing the spread of infection. 3. **Autophagy:** UMOD plays a role in the regulation of autophagy, a process by which cells recycle damaged or dysfunctional components, including pathogens. 4. **Cell surface:** UMOD is incorporated into the apical plasma membrane of renal epithelial cells, where it interacts with pathogens and regulates the host's response. 5. **Golgi lumen:** UMOD is also present in the Golgi apparatus, where it undergoes glycosylation, a post-translational modification that enhances its stability and function. **Clinical Significance:** UMOD's immunological significance extends beyond its role in maintaining renal homeostasis. Abnormalities in UMOD expression have been linked to various diseases, including: 1. **Nephropathy:** UMOD deficiency has been associated with nephropathy, a leading cause of chronic kidney disease. 2. **Kidney stones:** Altered UMOD expression has been linked to the development of kidney stones. 3. **Infections:** UMOD plays a critical role in the innate immune response against infections, and its dysfunction may contribute to recurrent infections. 4. **Cancer:** UMOD has been implicated in the regulation of cell growth and apoptosis, making it a potential biomarker for cancer diagnosis and prognosis. In conclusion, UMOD is a multifaceted protein with significant immunological implications. Its role in maintaining renal homeostasis, regulating the innate immune response, and its association with various diseases highlight the importance of this protein in human health and disease. Further research is necessary to fully elucidate the mechanisms underlying UMOD's functions and to explore its potential as a therapeutic target for various diseases.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Uromodulin

Genular Protein ID: 738784577

Symbol: UROM_HUMAN

Name: Uromodulin

UniProtKB Accession Codes:

P07911 B3KP48 B3KRN9 E9PEA4 Q540J6 Q6ZS84 Q8IYG0

Database IDs:

Citations:

PubMed ID: 3453112

Title: Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein.

PubMed ID: 3453112

DOI: 10.1126/science.3453112

PubMed ID: 3498215

Title: Uromodulin (Tamm-Horsfall glycoprotein): a renal ligand for lymphokines.

PubMed ID: 3498215

DOI: 10.1126/science.3498215

PubMed ID: 12471200

Title: Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

PubMed ID: 12471200

DOI: 10.1136/jmg.39.12.882

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18375198

Title: Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage.

PubMed ID: 18375198

DOI: 10.1016/j.bbrc.2008.03.099

PubMed ID: 7028707

Title: Localization of Tamm-Horsfall glycoprotein in the human kidney using immuno-fluorescence and immuno-electron microscopical techniques.

PubMed ID: 7028707

PubMed ID: 2249987

Title: Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein.

PubMed ID: 2249987

DOI: 10.1016/s0021-9258(17)45284-7

PubMed ID: 11134021

Title: Tamm-Horsfall protein binds to type 1 fimbriated Escherichia coli and prevents E. coli from binding to uroplakin Ia and Ib receptors.

PubMed ID: 11134021

DOI: 10.1074/jbc.m008610200

PubMed ID: 19005207

Title: Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly.

PubMed ID: 19005207

DOI: 10.1091/mbc.e08-08-0876

PubMed ID: 20798515

Title: Uromodulin facilitates neutrophil migration across renal epithelial monolayers.

PubMed ID: 20798515

DOI: 10.1159/000320554

PubMed ID: 20172860

Title: Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

PubMed ID: 20172860

DOI: 10.1093/hmg/ddq077

PubMed ID: 22171320

Title: Human urinary glycoproteomics; attachment site specific analysis of N- and O-linked glycosylations by CID and ECD.

PubMed ID: 22171320

DOI: 10.1074/mcp.m111.013649

PubMed ID: 22776760

Title: Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy.

PubMed ID: 22776760

DOI: 10.1159/000339752

PubMed ID: 26673890

Title: The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin.

PubMed ID: 26673890

DOI: 10.7554/elife.08887

PubMed ID: 32616672

Title: Architecture and function of human uromodulin filaments in urinary tract infections.

PubMed ID: 32616672

DOI: 10.1126/science.aaz9866

PubMed ID: 26811476

Title: A structured interdomain linker directs self-polymerization of human uromodulin.

PubMed ID: 26811476

DOI: 10.1073/pnas.1519803113

PubMed ID: 32815518

Title: The cryo-EM structure of the human uromodulin filament core reveals a unique assembly mechanism.

PubMed ID: 32815518

DOI: 10.7554/elife.60265

PubMed ID: 33196145

Title: Cryo-EM structure of native human uromodulin, a zona pellucida module polymer.

PubMed ID: 33196145

DOI: 10.15252/embj.2020106807

PubMed ID: 35273390

Title: Structure of the decoy module of human glycoprotein 2 and uromodulin and its interaction with bacterial adhesin FimH.

PubMed ID: 35273390

DOI: 10.1038/s41594-022-00729-3

PubMed ID: 12900848

Title: Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene.

PubMed ID: 12900848

DOI: 10.1016/s0272-6386(03)00670-x

PubMed ID: 14570709

Title: Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

PubMed ID: 14570709

DOI: 10.1093/hmg/ddg353

PubMed ID: 14569098

Title: A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

PubMed ID: 14569098

DOI: 10.1097/01.asn.0000092147.83480.b5

PubMed ID: 12629136

Title: UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.

PubMed ID: 12629136

DOI: 10.1210/jc.2002-021973

PubMed ID: 14531790

Title: Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

PubMed ID: 14531790

DOI: 10.1046/j.1523-1755.2003.00269.x

PubMed ID: 15086896

Title: Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.

PubMed ID: 15086896

DOI: 10.1111/j.1523-1755.2004.00559.x

PubMed ID: 15575003

Title: Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.

PubMed ID: 15575003

DOI: 10.1093/ndt/gfh524

PubMed ID: 15983957

Title: A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.

PubMed ID: 15983957

DOI: 10.1053/j.ajkd.2005.04.003

PubMed ID: 17010121

Title: Defective intracellular trafficking of uromodulin mutant isoforms.

PubMed ID: 17010121

DOI: 10.1111/j.1600-0854.2006.00481.x

PubMed ID: 21060763

Title: A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea.

PubMed ID: 21060763

DOI: 10.3346/jkms.2010.25.11.1680

PubMed ID: 23197950

Title: A Japanese family suffering from familial juvenile hyperuricemic nephropathy due to a rare mutation of the uromodulin gene.

PubMed ID: 23197950

DOI: 10.1159/000337343

PubMed ID: 23988501

Title: Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.

PubMed ID: 23988501

DOI: 10.1016/j.gene.2013.08.041

PubMed ID: 25436415

Title: Pathogenic uromodulin mutations result in premature intracellular polymerization.

PubMed ID: 25436415

DOI: 10.1016/j.febslet.2014.11.029

PubMed ID: 27729211

Title: A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.

PubMed ID: 27729211

DOI: 10.1016/j.clinbiochem.2016.10.003

Sequence Information:

Length: 640
Mass: 69761
Checksum: D26A07A76353AE48
Sequence:

MGQPSLTWML MVVVASWFIT TAATDTSEAR WCSECHSNAT CTEDEAVTTC TCQEGFTGDG 
LTCVDLDECA IPGAHNCSAN SSCVNTPGSF SCVCPEGFRL SPGLGCTDVD ECAEPGLSHC 
HALATCVNVV GSYLCVCPAG YRGDGWHCEC SPGSCGPGLD CVPEGDALVC ADPCQAHRTL 
DEYWRSTEYG EGYACDTDLR GWYRFVGQGG ARMAETCVPV LRCNTAAPMW LNGTHPSSDE 
GIVSRKACAH WSGHCCLWDA SVQVKACAGG YYVYNLTAPP ECHLAYCTDP SSVEGTCEEC 
SIDEDCKSNN GRWHCQCKQD FNITDISLLE HRLECGANDM KVSLGKCQLK SLGFDKVFMY 
LSDSRCSGFN DRDNRDWVSV VTPARDGPCG TVLTRNETHA TYSNTLYLAD EIIIRDLNIK 
INFACSYPLD MKVSLKTALQ PMVSALNIRV GGTGMFTVRM ALFQTPSYTQ PYQGSSVTLS 
TEAFLYVGTM LDGGDLSRFA LLMTNCYATP SSNATDPLKY FIIQDRCPHT RDSTIQVVEN 
GESSQGRFSV QMFRFAGNYD LVYLHCEVYL CDTMNEKCKP TCSGTRFRSG SVIDQSRVLN 
LGPITRKGVQ ATVSRAFSSL GLLKVWLPLL LSATLTLTFQ

Database document:

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Details for: UMOD

Associated with

Cells (max top 100)

Other Information

Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. PubMed ID: 3453112

Uromodulin (Tamm-Horsfall glycoprotein): a renal ligand for lymphokines. PubMed ID: 3498215

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. PubMed ID: 12471200

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The sequence and analysis of duplication-rich human chromosome 16. PubMed ID: 15616553

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage. PubMed ID: 18375198

Localization of Tamm-Horsfall glycoprotein in the human kidney using immuno-fluorescence and immuno-electron microscopical techniques. PubMed ID: 7028707

Uromodulin (Tamm-Horsfall glycoprotein/uromucoid) is a phosphatidylinositol-linked membrane protein. PubMed ID: 2249987

Tamm-Horsfall protein binds to type 1 fimbriated Escherichia coli and prevents E. coli from binding to uroplakin Ia and Ib receptors. PubMed ID: 11134021

Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly. PubMed ID: 19005207

Uromodulin facilitates neutrophil migration across renal epithelial monolayers. PubMed ID: 20798515

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. PubMed ID: 20172860

Human urinary glycoproteomics; attachment site specific analysis of N- and O-linked glycosylations by CID and ECD. PubMed ID: 22171320

Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy. PubMed ID: 22776760

The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin. PubMed ID: 26673890

Architecture and function of human uromodulin filaments in urinary tract infections. PubMed ID: 32616672

A structured interdomain linker directs self-polymerization of human uromodulin. PubMed ID: 26811476

The cryo-EM structure of the human uromodulin filament core reveals a unique assembly mechanism. PubMed ID: 32815518

Cryo-EM structure of native human uromodulin, a zona pellucida module polymer. PubMed ID: 33196145

Structure of the decoy module of human glycoprotein 2 and uromodulin and its interaction with bacterial adhesin FimH. PubMed ID: 35273390

Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. PubMed ID: 12900848

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. PubMed ID: 14570709

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. PubMed ID: 14569098

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. PubMed ID: 12629136

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. PubMed ID: 14531790

Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. PubMed ID: 15086896

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. PubMed ID: 15575003

A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. PubMed ID: 15983957

Defective intracellular trafficking of uromodulin mutant isoforms. PubMed ID: 17010121

A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. PubMed ID: 21060763

A Japanese family suffering from familial juvenile hyperuricemic nephropathy due to a rare mutation of the uromodulin gene. PubMed ID: 23197950

Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking. PubMed ID: 23988501

Pathogenic uromodulin mutations result in premature intracellular polymerization. PubMed ID: 25436415

A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease. PubMed ID: 27729211