Kelch-like protein 3
An Error has occurred retrieving Wikidata item for infobox Kelch-like protein 3 is a protein in humans that is encoded by the KLHL3 gene.[1] Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Function
This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex.[1]
Clinical significance
Pseudohypoaldosteronism Type 2D
Mutations in this gene cause pseudohypoaldosteronism type IID (PHA2D)[2][3]; a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis.[1]
Ischemic Stroke
A machine learning model identified the KLHL3 gene as a key gene in the occurrence and progression of ischemic stroke.[4]
References
- ^ 1.0 1.1 1.2 "Entrez Gene: Kelch-like 3 (Drosophila)". Retrieved 2012-04-26.
- ^ Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, et al. (March 2012). "KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron". Nature Genetics. 44 (4): 609. doi:10.1038/ng0512-609. PMID 22406640.
- ^ Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, et al. (January 2012). "Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities". Nature. 482 (7383): 98–102. doi:10.1038/nature10814. PMC 3278668. PMID 22266938.
- ^ Huang D, Zhu Y, Shen J, Song C (May 2024). "Identification of Potential Neddylation-related Key Genes in Ischemic Stroke based on Machine Learning Methods". Molecular Neurobiology. 61 (5): 2530–2541. doi:10.1007/s12035-023-03738-5. PMID 37910287.
Further reading
- Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O (October 1999). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA Research. 6 (5): 329–336. doi:10.1093/dnares/6.5.329. PMID 10574461.
- Yeo A, Samways DS, Fowler CE, Gunn-Moore F, Henderson G (March 2001). "Coincident signalling between the Gi/Go-coupled delta-opioid receptor and the Gq-coupled m3 muscarinic receptor at the level of intracellular free calcium in SH-SY5Y cells". Journal of Neurochemistry. 76 (6): 1688–1700. doi:10.1046/j.1471-4159.2001.00185.x. PMID 11259487. S2CID 2755275.
- Mizutani A, Fukuda M, Ibata K, Shiraishi Y, Mikoshiba K (March 2000). "SYNCRIP, a cytoplasmic counterpart of heterogeneous nuclear ribonucleoprotein R, interacts with ubiquitous synaptotagmin isoforms". The Journal of Biological Chemistry. 275 (13): 9823–9831. doi:10.1074/jbc.275.13.9823. PMID 10734137.
- Lai F, Orelli BJ, Till BG, Godley LA, Fernald AA, Pamintuan L, et al. (May 2000). "Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene". Genomics. 66 (1): 65–75. doi:10.1006/geno.2000.6181. PMID 10843806.
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