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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UH77: Variant p.Ser433Gly

Kelch-like protein 3
Gene: KLHL3
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Variant information Variant position: help 433
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Glycine (G) at position 433 (S433G, p.Ser433Gly).
Physico-chemical properties: help Change from small size and polar (S) to glycine (G)
BLOSUM score: help 0
Variant description: help In PHA2D; decreased interaction with WNK4.


Sequence information Variant position: help 433
Protein sequence length: help 587
Location on the sequence: help AYSYKTNEWFFVAPMNTRRS S VGVGVVEGKLYAVGGYDGAS
Residue conservation: help 
Human                         AYSYKTNEWFFVAPMNTRRSSVGVGVVEGKLYAVGGYDGAS

Mouse                         AYSYKTNEWFFVAPMNTRRSSVGVGVVEGKLYAVGGYDGAS

Rat                           AYSYKTNEWFFVAPMNTRRSSVGVGVVEGKLYAVGGYDGAS

Bovine                        AYSYKTNEWFFVAPMNTRRSSVGVGVVEGKLYAVGGYDGAS

Zebrafish                     AYNPKANEWMFVAPMNTRRSSVGVGVVDGKLYAVGGYDGAS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 587 Kelch-like protein 3
Repeat 396 – 441 Kelch 3
Modified residue 433 – 433 Phosphoserine; by PKA and PKC
Mutagenesis 433 – 433 S -> AN. Abolished phosphorylation by PKC, promoting ubiquitination and degradation of WNK4.
Mutagenesis 433 – 433 S -> ED. Mimics phosphorylation, preventing binding and degradation of WNK4.



Literature citations
Impaired degradation of WNK by Akt and PKA phosphorylation of KLHL3.
Yoshizaki Y.; Mori Y.; Tsuzaki Y.; Mori T.; Nomura N.; Wakabayashi M.; Takahashi D.; Zeniya M.; Kikuchi E.; Araki Y.; Ando F.; Isobe K.; Nishida H.; Ohta A.; Susa K.; Inoue Y.; Chiga M.; Rai T.; Sasaki S.; Uchida S.; Sohara E.;
Biochem. Biophys. Res. Commun. 467:229-234(2015)
Cited for: PHOSPHORYLATION AT SER-10; THR-295; THR-375; SER-376 AND SER-433; CHARACTERIZATION OF VARIANT PHA2D GLY-433; MUTAGENESIS OF SER-433; KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
Louis-Dit-Picard H.; Barc J.; Trujillano D.; Miserey-Lenkei S.; Bouatia-Naji N.; Pylypenko O.; Beaurain G.; Bonnefond A.; Sand O.; Simian C.; Vidal-Petiot E.; Soukaseum C.; Mandet C.; Broux F.; Chabre O.; Delahousse M.; Esnault V.; Fiquet B.; Houillier P.; Bagnis C.I.; Koenig J.; Konrad M.; Landais P.; Mourani C.; Niaudet P.; Probst V.; Thauvin C.; Unwin R.J.; Soroka S.D.; Ehret G.; Ossowski S.; Caulfield M.; Bruneval P.; Estivill X.; Froguel P.; Hadchouel J.; Schott J.J.; Jeunemaitre X.;
Nat. Genet. 44:456-460(2012)
Cited for: VARIANTS PHA2D GLY-228; MET-361; TRP-362; TRP-384; VAL-398; LEU-410; LEU-426; ASN-432; GLY-433; VAL-500; HIS-528; CYS-528 AND LYS-529; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.