| Gene Symbol |
UMOD
|
| Entrez Gene |
7369
|
| Alt Symbol |
ADMCKD2, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
uromodulin
|
| Other Description |
Tamm-Horsfall urinary glycoprotein|uromucoid
|
| Swissprots |
Q6ZS84 B3KP48 B3KRN9 P07911 Q540J6 Q8IYG0 E9PEA4
|
| Accessions |
AAL27853 AAO64446 EAW50314 EAW50315 P07911 AK055722 BAG51560 AK091961 BAG52451 AK096043 BAG53202 AK127643 BAC87070 AK127648 BAG54541 BC035975 AAH35975 BF593229 BG428950 DA634392 M15881 AAA36798 M17778 AAA36799 XM_011545934 XP_011544236 XM_011545935 XP_011544237 XM_011545936 XP_011544238 XM_011545937 XP_011544239 XM_011545938 XP_011544240 XM_011545939 XP_011544241 XM_011545940 XP_011544242 NM_001008389 NP_001008390 NM_001278614 NP_001265543 NM_003361 NP_003352
|
| Function |
Uromodulin: 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 providing the water barrier permeability. May serve as a receptor for binding and endocytosis for cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelial. {ECO:0000269|PubMed:20798515}.
|
| Subcellular Location |
Apical cell membrane {ECO:0000269|PubMed:22776760, ECO:0000269|PubMed:23988501}; Lipid- anchor, GPI-anchor. Basolateral cell membrane; Lipid-anchor, GPI- anchor. Cell projection, cilium membrane. Note=Only a small fraction sorts to the basolateral pole of tubular epithelial cells compared to apical localization. Secreted into urine after cleavage. Colocalized with NPHP1 and KIF3A.
|
| Tissue Specificity |
Expressed in the tubular cells of the kidney (at protein level). Synthesized exclusively in the kidney. Expressed exclusively by epithelial cells of the thick ascending limb of Henle's loop (TALH) and of distal convoluted tubule lumen. Most abundant protein in normal urine. {ECO:0000269|PubMed:22776760, ECO:0000269|PubMed:23988501, ECO:0000269|PubMed:7028707}.
|