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Q9UH77 Proteins with Kelch Repeats
Uniprot ID: Q9UH77
Protein name : Kelch-like protein 3
Gene : KLHL3 KIAA1129
Protein Families :
Squence Length : 587
Sequence
>Q9UH77 588 MEGESVKLSSQTLIQAGDDEKNQRTITVNPAHMGKAFKVMNELRSKQLLCDVMIVAEDVEIEAHRVVLAACSPYFCAMFTGDMSESKAKKIEIKDVDGQTLSKLIDYIYTAEIEVTEENVQVLLPAASLLQLMDVRQNCCDFLQSQLHPTNCLGIRAFADVHTCTDLLQQANAYAEQHFPEVMLGEEFLSLSLDQVCSLISSDKLTVSSEEKVFEAVISWINYEKETRLEHMAKLMEHVRLPLLPRDYLVQTVEEEALIKNNNTCKDFLIEAMKYHLLPLDQRLLIKNPRTKPRTPVSLPKVMIVVGGQAPKAIRSVECYDFEEDRWDQIAELPSRRCRAGVVFMAGHVYAVGGFNGSLRVRTVDVYDGVKDQWTSIASMQERRSTLGAAVLNDLLYAVGGFDGSTGLASVEAYSYKTNEWFFVAPMNTRRSSVGVGVVEGKLYAVGGYDGASRQCLSTVEQYNPATNEWIYVADMSTRRSGAGVGVLSGQLYATGGHDGPLVRKSVEVYDPGTNTWKQVADMNMCRRNAGVCAVNGLLYVVGGDDGSCNLASVEYYNPVTDKWTLLPTNMSTGRSYAGVAVIHKSL
Repeat regions
REPEAT 302 347 Kelch 1 REPEAT 348 394 Kelch 2 REPEAT 396 441 Kelch 3 REPEAT 442 490 Kelch 4 REPEAT 491 537 Kelch 5 REPEAT 539 585 Kelch 6
Sequence region of repeats
302- 347 IVVGGQAPKAIRSVECYDFEEDRWDQIAELPSRRCRAGVVFMAGHV 348- 394 YAVGGFNGSLRVRTVDVYDGVKDQWTSIASMQERRSTLGAAVLNDLL 396- 441 AVGGFDGSTGLASVEAYSYKTNEWFFVAPMNTRRSSVGVGVVEGKL 442- 490 YAVGGYDGASRQCLSTVEQYNPATNEWIYVADMSTRRSGAGVGVLSGQL 491- 537 YATGGHDGPLVRKSVEVYDPGTNTWKQVADMNMCRRNAGVCAVNGLL 539- 585 VVGGDDGSCNLASVEYYNPVTDKWTLLPTNMSTGRSYAGVAVIHKSL
Domains
DOMAIN 50 117 BTB. DOMAIN 152 254 BACK
Function
"Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron (PubMed:14528312, PubMed:22406640, PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031). The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an inhibitor of potassium channel KCNJ1, leading to WNK4 degradation (PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031). The BCR(KLHL3) complex also mediates ubiquitination and degradation of CLDN8, a tight-junction protein required for paracellular chloride transport in the kidney (By similarity)"
Mutation
"433 433 S->E,D: Phosphomimetic mutant that shows decreased interaction with WNK4"
Disease
"DISEASE: Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]: A disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics PHA2D inheritance is autosomal dominant or recessive Note=The disease is caused by mutations affecting the gene represented in this entry"