Kelch-like protein 3

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KLHL3
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases KLHL3, PHA2D, kelch like family member 3
External IDs MGI: 2445185 HomoloGene: 79542 GeneCards: KLHL3
Gene location (Human)
Chromosome 5 (human)
Chr. Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for KLHL3
Genomic location for KLHL3
Band 5q31.2 Start 137,617,500 bp[1]
End 137,736,090 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017415
NM_001257194
NM_001257195

NM_001195075

RefSeq (protein)

NP_001244123
NP_001244124
NP_059111

NP_001182004

Location (UCSC) Chr 5: 137.62 – 137.74 Mb Chr 5: 58 – 58.11 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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[edit]

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[edit]

Mutations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia[6] and metabolic acidosis.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000146021 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014164 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b c "Entrez Gene: Kelch-like 3 (Drosophila)". Retrieved 2012-04-26. 
  6. ^ "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[edit]

  • 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.