KLHL3

Kelch-like family member 3
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsKLHL3 ; PHA2D
External IDsOMIM: 605775 HomoloGene: 79542 GeneCards: KLHL3 Gene
Orthologs
SpeciesHumanMouse
Entrez26249100503085
EnsemblENSG00000146021ENSMUSG00000014164
UniProtQ9UH77n/a
RefSeq (mRNA)NM_001257194NM_001195075
RefSeq (protein)NP_001244123NP_001182004
Location (UCSC)Chr 5:
136.95 – 137.07 Mb		Chr 13:
58 – 58.11 Mb
PubMed search

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

Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia[2] and metabolic acidosis.[1]

References

  1. ↑ 1.0 1.1 1.2 "Entrez Gene: Kelch-like 3 (Drosophila)". Retrieved 2012-04-26.
  2. ↑ 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 International Consortium For Blood Pressure, Icbp, Bruneval, P, Estivill, X, Froguel, P, Hadchouel, J, Schott, JJ, Jeunemaitre, X (Apr 26, 2012). "KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.". Nature Genetics 44 (5): 609. doi:10.1038/ng0512-609. PMID 22538725.

Further reading

  • Hirosawa, M.; Nagase, T.; Ishikawa, K.; Kikuno, R.; Nomura, N.; Ohara, O. (1999). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA research : an international journal for rapid publication of reports on genes and genomes 6 (5): 329–336. doi:10.1093/dnares/6.5.329. PMID 10574461.
  • Yeo, A.; Samways, D. S.; Fowler, C. E.; Gunn-Moore, F.; Henderson, G. (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.
  • Mizutani, A.; Fukuda, M.; Ibata, K.; Shiraishi, Y.; Mikoshiba, K. (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, B. J.; Till, B. G.; Godley, L. A.; Fernald, A. A.; Pamintuan, L.; Le Beau, M. M. (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.
  • Schmutz, J.; Martin, J.; Terry, A.; Couronne, O.; Grimwood, J.; Lowry, S.; Gordon, L. A.; Scott, D.; Xie, G.; Huang, W.; Hellsten, U.; Tran-Gyamfi, M.; She, X.; Prabhakar, S.; Aerts, A.; Altherr, M.; Bajorek, E.; Black, S.; Branscomb, E.; Caoile, C.; Challacombe, J. F.; Chan, Y.; Denys, M.; Detter, J. C.; Escobar, J.; Flowers, D.; Fotopulos, D.; Glavina, T.; Gomez, M.; Gonzales, E. (2004). "The DNA sequence and comparative analysis of human chromosome 5". Nature 431 (7006): 268–274. doi:10.1038/nature02919. PMID 15372022.