Kelch-like protein 3
{{Short description|Protein-coding gene in the species Homo sapiens}}
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{{Infobox_gene}}
Kelch-like protein 3 is a protein in humans that is encoded by the KLHL3 gene.{{cite web | title = Entrez Gene: Kelch-like 3 (Drosophila) | url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=26249 | access-date = 2012-04-26 }} 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.
Clinical significance
= Pseudohypoaldosteronism Type 2D =
Mutations in this gene cause pseudohypoaldosteronism type IID (PHA2D);{{cite journal | vauthors = 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 CI, Koenig J, Konrad M, Landais P, Mourani C, Niaudet P, Probst V, Thauvin C, Unwin RJ, Soroka SD, Ehret G, Ossowski S, Caulfield M, Bruneval P, Estivill X, Froguel P, Hadchouel J, Schott JJ, Jeunemaitre X | title = KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron | journal = Nature Genetics | volume = 44 | issue = 4 | pages = 609 | date = March 2012 | pmid = 22406640 | doi = 10.1038/ng0512-609 | doi-access = free }}{{cite journal | vauthors = Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP | title = Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities | journal = Nature | volume = 482 | issue = 7383 | pages = 98–102 | date = January 2012 | pmid = 22266938 | pmc = 3278668 | doi = 10.1038/nature10814 }} a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis.
= Ischemic Stroke =
A machine learning model identified the KLHL3 gene as a key gene in the occurrence and progression of ischemic stroke.{{cite journal | vauthors = Huang D, Zhu Y, Shen J, Song C | title = Identification of Potential Neddylation-related Key Genes in Ischemic Stroke based on Machine Learning Methods | journal = Molecular Neurobiology | volume = 61 | issue = 5 | pages = 2530–2541 | date = May 2024 | pmid = 37910287 | doi = 10.1007/s12035-023-03738-5 }}
References
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Further reading
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- {{cite journal | vauthors = Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O | title = Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain | journal = DNA Research | volume = 6 | issue = 5 | pages = 329–336 | date = October 1999 | pmid = 10574461 | doi = 10.1093/dnares/6.5.329 | doi-access = free }}
- {{cite journal | vauthors = Yeo A, Samways DS, Fowler CE, Gunn-Moore F, Henderson G | title = 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 = Journal of Neurochemistry | volume = 76 | issue = 6 | pages = 1688–1700 | date = March 2001 | pmid = 11259487 | doi = 10.1046/j.1471-4159.2001.00185.x | s2cid = 2755275 }}
- {{cite journal | vauthors = Mizutani A, Fukuda M, Ibata K, Shiraishi Y, Mikoshiba K | title = SYNCRIP, a cytoplasmic counterpart of heterogeneous nuclear ribonucleoprotein R, interacts with ubiquitous synaptotagmin isoforms | journal = The Journal of Biological Chemistry | volume = 275 | issue = 13 | pages = 9823–9831 | date = March 2000 | pmid = 10734137 | doi = 10.1074/jbc.275.13.9823 | doi-access = free }}
- {{cite journal | vauthors = Lai F, Orelli BJ, Till BG, Godley LA, Fernald AA, Pamintuan L, Le Beau MM | title = Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene | journal = Genomics | volume = 66 | issue = 1 | pages = 65–75 | date = May 2000 | pmid = 10843806 | doi = 10.1006/geno.2000.6181 }}
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