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Hum Genomics. 2013 May 15;7:13. doi: 10.1186/1479-7364-7-13.

Update on the Kelch-like (KLHL) gene family.

Author information

1
Department of Ophthalmology, University of Colorado School of Medicine, Aurora, CO 80045, USA.

Abstract

The Kelch-like (KLHL) gene family encodes a group of proteins that generally possess a BTB/POZ domain, a BACK domain, and five to six Kelch motifs. BTB domains facilitate protein binding and dimerization. The BACK domain has no known function yet is of functional importance since mutations in this domain are associated with disease. Kelch domains form a tertiary structure of β-propellers that have a role in extracellular functions, morphology, and binding to other proteins. Presently, 42 KLHL genes have been classified by the HUGO Gene Nomenclature Committee (HGNC), and they are found across multiple human chromosomes. The KLHL family is conserved throughout evolution. Phylogenetic analysis of KLHL family members suggests that it can be subdivided into three subgroups with KLHL11 as the oldest member and KLHL9 as the youngest. Several KLHL proteins bind to the E3 ligase cullin 3 and are known to be involved in ubiquitination. KLHL genes are responsible for several Mendelian diseases and have been associated with cancer. Further investigation of this family of proteins will likely provide valuable insights into basic biology and human disease.

PMID:
23676014
PMCID:
PMC3658946
DOI:
10.1186/1479-7364-7-13
[Indexed for MEDLINE]
Free PMC Article

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