KLHL3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKLHL3, PHA2D, kelch like family member 3
External IDsOMIM: 605775 MGI: 2445185 HomoloGene: 79542 GeneCards: KLHL3
Orthologs
SpeciesHumanMouse
Entrez

26249

100503085

Ensembl

ENSG00000146021

ENSMUSG00000014164

UniProt

Q9UH77

E0CZ16

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

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

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000146021 - Ensembl, May 2017
  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.
  5. 1 2 3 "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


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