Kelch-like protein 3
Kelch-like protein 3 is a protein in humans that is encoded by the KLHL3 gene.[5] 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.[5]
Clinical significance
Mutations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia[6] and metabolic acidosis.[5]
gollark: There's also the secret tunnel network™, connecting exactly two locations with an 8000-block-long tunnel nobody ever uses.
gollark: And it turns out rails actually cost significantly more than I thought.
gollark: The rail thing isn't actually widely deployed since there are also unlimited `/home` locations.
gollark: I tend to play on lightly modded servers, so we have things like nether iceways and my automatically routed rail network there.
gollark: They're not deliberately making a weird pricing structure. The tokens are just a way to compact the input before it goes into the model. These things are often (partly) based on "transformers", which operate on a sequence of discrete tokens as input/output, and for which time/space complexity scales quadratically with input length. So they can't just give the thing bytes directly or something like that. And for various reasons it wouldn't make sense to give it entire words as inputs. The compromise is to break text into short tokens, which *on average* map to a certain number of words.
References
- GRCh38: Ensembl release 89: ENSG00000146021 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000014164 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Kelch-like 3 (Drosophila)". Retrieved 2012-04-26.
- "KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron". Nature Genetics. 44 (5): 609. Apr 26, 2012. doi:10.1038/ng0512-609.
Further reading
- Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O (Oct 1999). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA Research. 6 (5): 329–36. doi:10.1093/dnares/6.5.329. PMID 10574461.
- Yeo A, Samways DS, Fowler CE, Gunn-Moore F, Henderson G (Mar 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): 1688–700. doi:10.1046/j.1471-4159.2001.00185.x. PMID 11259487.
- Mizutani A, Fukuda M, Ibata K, Shiraishi Y, Mikoshiba K (Mar 2000). "SYNCRIP, a cytoplasmic counterpart of heterogeneous nuclear ribonucleoprotein R, interacts with ubiquitous synaptotagmin isoforms". The Journal of Biological Chemistry. 275 (13): 9823–31. doi:10.1074/jbc.275.13.9823. PMID 10734137.
- Lai F, Orelli BJ, Till BG, Godley LA, Fernald AA, Pamintuan L, Le Beau MM (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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