KLHL5
- Preferred Names kelch-like protein 5
- Names lymphocyte activation-associated protein
- Expression Ubiquitous expression in fat (RPKM 8.4), urinary bladder (RPKM 6.6) and 24 other tissues See more
- Orthologs mouse all
- Characterization of a novel splicing variant of KLHL5, a member of the kelch protein family. Xu J, et al. Mol Biol Rep, 2003 Dec. PMID 14672410. The kelch-repeat protein family is a recently found new kind of actin-binding protein. It is characterized by tandemly arranged motifs of about 50 amino acids. Previous study showed that most members of the kelch-repeat family were cytoskeletal proteins implicated in various cellular processes, such as actin cytoskeleton interaction, cytoplasmic sequestration of transcription factors and cell morphology. And some of the family members play important roles in tissue development, such as human ENC-1, NRP/B, etc. Another characteristic of the kelch family is that most members have another conserved BTB domain at the extreme amino terminus. The BTB domain is also found at the N-terminus of 5-10% of zinc-finger transcription factor types and is a conserved protein-protein interaction motif. During the large-scale sequencing analysis of a human fetal brain cDNA library we found a novel kelch-like protein gene 5, KLHL5, KLHL5 has high identity with Drosophila kelch protein and many other family members. Here we report a novel splicing variants of KLHL5, named KLHL5b and the expression pattern of KLHL5b in many tissues.
- Cloning and characterization of KLHL5, a novel human gene encoding a kelch-related protein with a BTB domain. Wang S, et al. Biochem Genet, 2001 Aug. PMID 11590829
- Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations. Ding L, et al. Hum Genomics, 2013 Jul 5. PMID 23829686, Free PMC Article
- A genome-wide association study of serum uric acid in African Americans. Charles BA, et al. BMC Med Genomics, 2011 Feb 4. PMID 21294900, Free PMC Article
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Update on the Kelch-like (KLHL) gene family.
Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC ArticleAbstractThe 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.
