KLHL3 (kelch like family member 3)

2014-11-01  

Identity

HGNC
LOCATION
5q31.2
LOCUSID
ALIAS
PHA2D
FUSION GENES

Other Information

Locus ID:

NCBI: 26249
MIM: 605775
HGNC: 6354
Ensembl: ENSG00000146021

Variants:

dbSNP: 26249
ClinVar: 26249
TCGA: ENSG00000146021
COSMIC: KLHL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146021ENST00000309755Q9UH77
ENSG00000146021ENST00000504208D6R9K4
ENSG00000146021ENST00000505853D6RH21
ENSG00000146021ENST00000506491Q9UH77
ENSG00000146021ENST00000508657Q9UH77

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
222669382012Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.169
224066402012KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.87
235767622013Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4.78
233872992013The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction.63
252505722014Hyperkalemic hypertension-associated cullin 3 promotes WNK signaling by degrading KLHL3.50
235732582013Crystal structure of KLHL3 in complex with Cullin3.26
253130672014Angiotensin II signaling via protein kinase C phosphorylates Kelch-like 3, preventing WNK4 degradation.25
236650312013Disease-causing mutations in KLHL3 impair its effect on WNK4 degradation.20
239624262013Decrease of WNK4 ubiquitination by disease-causing mutations of KLHL3 through different molecular mechanisms.16
264354982015Impaired degradation of WNK by Akt and PKA phosphorylation of KLHL3.9

Citation

Dessen P

KLHL3 (kelch like family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64972/klhl3