UMOD - uromodulin Gene
Also Known as THP; FJHN; HNFJ; THGP; HNFJ1; MCKD2; ADTKD1; ADMCKD2
Species: Homo sapiens
About UMOD
This gene has 12 transcripts (splice variants), 107 orthologues, 5 paralogues and is associated with 2 phenotypes. Restricted expression toward kidney (RPKM 990.9).
Summary
The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
UMOD Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001008389.3 | NP_001008390.1 | uromodulin isoform a preproprotein |
| NM_001278614.2 | NP_001265543.1 | uromodulin isoform b preproprotein |
| NM_001378232.1 | NP_001365161.1 | uromodulin isoform a preproprotein |
| NM_001378233.1 | NP_001365162.1 | uromodulin isoform a preproprotein |
| NM_001378234.1 | NP_001365163.1 | uromodulin isoform c preproprotein |
| NM_001378235.1 | NP_001365164.1 | uromodulin isoform c preproprotein |
| NM_001378237.1 | NP_001365166.1 | uromodulin isoform d preproprotein |
| NM_003361.4 | NP_003352.2 | uromodulin isoform a preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables IgG binding |
IDA
IDA: Inferred from direct assay
|
20798515 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32045104 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in antibacterial innate immune response |
IDA
IDA: Inferred from direct assay
|
32616672 | GOA |
| involved in defense response to Gram-negative bacterium |
IDA
IDA: Inferred from direct assay
|
32616672 | GOA |
| involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules |
IDA
IDA: Inferred from direct assay
|
20798515 | GOA |
| involved in leukocyte cell-cell adhesion |
IDA
IDA: Inferred from direct assay
|
20798515 | GOA |
| involved in neutrophil migration |
IDA
IDA: Inferred from direct assay
|
20798515 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in apical plasma membrane |
IDA
IDA: Inferred from direct assay
|
7028707 | GOA |
| located in basolateral plasma membrane |
IDA
IDA: Inferred from direct assay
|
7028707 | GOA |
| located in cilium |
IDA
IDA: Inferred from direct assay
|
20172860 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
2249987 | GOA |
| located in spindle pole |
IDA
IDA: Inferred from direct assay
|
20172860 | GOA |
UMOD Protein Structure
EGF_3: EGF domain (34 - 63)
EGF_CA: Calcium-binding EGF domain (65 - 99)
EGF_CA: Calcium-binding EGF domain (108 - 148)
Zona_pellucida: Zona pellucida-like domain (334 - 584)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 640 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
uromodulin |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
|
| Hyperuricemia |
|
|
| Gout |
|
|
| Cystic Kidney Disease |
|
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| Kidney Disease |
|
|
| Urinary Tract Infection |
|
|
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
|
| Interstitial Nephritis |
|
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| Cystitis |
|
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| Urinary Tract Obstruction |
|
|
| Chronic Pyelonephritis |
|
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| Nephrolithiasis, Calcium Oxalate |
|
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| Urolithiasis |
|
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| Acute Kidney Tubular Necrosis |
|
|
| Urinary System Disease |
|
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| Chronic Kidney Disease |
|
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| Nephrolithiasis |
|
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| Vesicoureteral Reflux |
|
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| Bartter Disease |
|
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| Fabry Disease |
|
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| Bacteriuria |
|
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| Fanconi Syndrome |
|
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| Nephronophthisis |
|
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| Pyelonephritis |
|
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| Acute Cystitis |
|
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| Pyelitis |
|
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| Acute Kidney Failure |
|
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| Adenine Phosphoribosyltransferase Deficiency |
|
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| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
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| Renal Dysplasia, Cystic |
|
|
| Renal Cysts And Diabetes Syndrome |
|
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| Polycystic Kidney Disease |
|
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| Kidney Papillary Necrosis |
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
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| Alport Syndrome |
|
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| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
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| Autosomal Dominant Polycystic Kidney Disease |
|
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| Cakut |
|
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| Hematuria, Benign Familial |
|
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| Lesch-Nyhan Syndrome |
|
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| Ureteral Disease |
|
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| Cystinuria |
|
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| Diabetes Mellitus |
|
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| Liddle Syndrome 1 |
|
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| Polycystic Liver Disease |
|
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| Hypertension, Essential |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | UMOD | VGNC | VGNC:78716 |
| Canis familiaris | UMOD | VGNC | VGNC:54085 |
| Felis catus | UMOD | VGNC | VGNC:66818 |
| Bos taurus | UMOD | VGNC | VGNC:57318 |
| Rattus norvegicus | UMOD | RGD | RGD:3940 |
| Mus musculus | UMOD | MGD | MGI:102674 |
| Others | UMOD | NCBI |