Jump to content

Kelch-like protein 3

From Wikipedia, the free encyclopedia

KLHL3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKLHL3, PHA2D, kelch like family member 3
External IDsOMIM: 605775; MGI: 2445185; HomoloGene: 79542; GeneCards: KLHL3; OMA:KLHL3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017415
NM_001257194
NM_001257195

NM_001195075
NM_001362415
NM_001368867
NM_001368868

RefSeq (protein)

NP_001244123
NP_001244124
NP_059111

NP_001349344
NP_001355796
NP_001355797

Location (UCSC)Chr 5: 137.62 – 137.74 MbChr 13: 58.15 – 58.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

Pseudohypoaldosteronism Type 2D

[edit]

Mutations in this gene cause pseudohypoaldosteronism type IID (PHA2D);[6][7] a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis.[5]

Ischemic Stroke

[edit]

A machine learning model identified the KLHL3 gene as a key gene in the occurrence and progression of ischemic stroke.[8]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000146021Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014164Ensembl, 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.
  5. ^ a b c "Entrez Gene: Kelch-like 3 (Drosophila)". Retrieved 2012-04-26.
  6. ^ Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, et al. (March 2012). "KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron". Nature Genetics. 44 (4): 609. doi:10.1038/ng0512-609. PMID 22406640.
  7. ^ Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, et al. (January 2012). "Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities". Nature. 482 (7383): 98–102. doi:10.1038/nature10814. PMC 3278668. PMID 22266938.
  8. ^ Huang D, Zhu Y, Shen J, Song C (May 2024). "Identification of Potential Neddylation-related Key Genes in Ischemic Stroke based on Machine Learning Methods". Molecular Neurobiology. 61 (5): 2530–2541. doi:10.1007/s12035-023-03738-5. PMID 37910287.

Further reading

[edit]