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; ; middle temporal gyrus; ; cerebellar hemisphere; ; Brodmann area 23; ; Brodmann area 46; ; sural nerve; ; Region I of hippocampus proper; ; inferior olivary nucleus; ; postcentral gyrus; ; retinal pigment epithelium;
	Top expressed in
	hippocampus proper; ; kidney; ; superior frontal gyrus; ; olfactory bulb; ; cerebellum; ; cerebellar cortex; ; neural tube; ; mesencephalon; ; hypothalamus; ; heart;
	More reference expression data
	n/a
Gene ontology
Molecular function	actin binding ; 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 Contents Function ; Clinical significance ; Pseudohypoaldosteronism Type 2D ; Ischemic Stroke ; References ; Further reading ;
	NP_001244123 ; NP_001244124 ; NP_059111
	NP_001349344 ; NP_001355796 ; NP_001355797
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated April 04, 2024

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

Pseudohypoaldosteronism Type 2D

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

Ischemic Stroke

A machine learning model identified the KLHL3 gene as a key gene in the occurrence and progression of ischemic stroke.^[7]

Related Research Articles

The related to receptor tyrosine kinase (RYK) gene encodes the protein Ryk.

Lysophosphatidic acid receptor 6, also known as LPA₆, P2RY5 and GPR87, is a protein that in humans is encoded by the LPAR6 gene. LPA₆ is a G protein-coupled receptor that binds the lipid signaling molecule lysophosphatidic acid (LPA).

Kelch-like ECH-associated protein 1 is a protein that in humans is encoded by the Keap1 gene.

Cullin 3 is a protein that in humans is encoded by the CUL3 gene.

Sialic acid-binding Ig-like lectin 12, or Siglec-XII, is a protein that in humans, is encoded by the SIGLEC12 gene.

BTB/POZ domain-containing protein 1 is a protein that in humans is encoded by the BTBD1 gene.

BTB/POZ domain-containing protein 2 is a protein that in humans is encoded by the BTBD2 gene.

Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.

POZ-, AT hook-, and zinc finger-containing protein 1 is a protein that in humans is encoded by the PATZ1 gene.

Synaptotagmin-5 is a protein that in humans is encoded by the SYT5 gene.

Kelch-like protein 12 is a protein that in humans is encoded by the KLHL12 gene.

BTB/POZ domain-containing protein KCTD13 is a protein that in humans is encoded by the KCTD13 gene.

Kelch-like protein 20 is a protein that in humans is encoded by the KLHL20 gene.

Phosphatidate cytidylyltransferase 1 is an enzyme that in humans is encoded by the CDS1 gene.

Kelch domain-containing protein 3 is a protein that in humans is encoded by the KLHDC3 gene.

Kelch-like protein 7 is a protein that in humans is encoded by the KLHL7 gene.

Ankyrin repeat and BTB/POZ domain-containing protein 1 is a protein that in humans is encoded by the ABTB1 gene.

Leucine-zipper-like transcriptional regulator 1 is a protein that in humans is encoded by the LZTR1 gene.

Dachshund homolog 2 is a protein that in humans is encoded by the DACH2 gene.

Kelch-like family member 2 is a protein that in humans is encoded by the KLHL2 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000146021 - Ensembl, May 2017
1 2 3 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.
1 2 3 "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 .
↑ Huang D (1 November 2023). "Identification of Potential Neddylation-related Key Genes in Ischemic Stroke based on Machine Learning Methods". Molecular Neurobiology. doi:10.1007/s12035-023-03738-5. PMID 37910287.

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000146021 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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] 1 2 3 "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 .

[7] Huang D (1 November 2023). "Identification of Potential Neddylation-related Key Genes in Ischemic Stroke based on Machine Learning Methods". Molecular Neurobiology. doi:10.1007/s12035-023-03738-5. PMID 37910287.

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