Kelch-like protein 3

KLHL3
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4CH9, 4HXI
Identifiers
Aliases	KLHL3, PHA2D, kelch like family member 3
External IDs	OMIM: 605775 MGI: 2445185 HomoloGene: 79542 GeneCards: KLHL3
Gene location (Human)
Chr.	Chromosome 5 (human)
End	137,736,089 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	58,261,406 bp
RNA expression pattern
	Top expressed in
	cerebellar vermis; ; cerebellum; ; cerebellar hemisphere; ; middle temporal gyrus; ; retinal pigment epithelium; ; sural nerve; ; Brodmann area 23;
	More reference expression data
	n/a
Gene ontology
Molecular function	actin binding; GO:0001948 protein binding; structural molecule activity; ubiquitin-protein transferase activity;
Cellular component	cytoplasm; cytoskeleton; Cul3-RING ubiquitin ligase complex; cytosol;
Biological process	protein K48-linked ubiquitination; distal tubule morphogenesis; renal sodium ion absorption; protein ubiquitination; ion homeostasis; post-translational protein modification; ubiquitin-dependent protein catabolic process; selective autophagy;
	Sources:Amigo / QuickGO
Orthologs
	26249
	100503085
	ENSG00000146021
	ENSMUSG00000014164
	Q9UH77
	E0CZ16
	NM_017415; NM_001257194; NM_001257195
	NM_001195075; NM_001362415; NM_001368867; NM_001368868
	NP_001244123; NP_001244124; NP_059111
	NP_001349344; NP_001355796; NP_001355797
	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[]

This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a 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]

References[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000146021 - Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b ^c "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. S2CID 2755275.
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.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by .

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000146021 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000014164 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Kelch-like 3 (Drosophila)". Retrieved 2012-04-26.

[pmid.22538725-6] "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.

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