Disease relevance of KLHL1

• We found that klhl was a member of the kelch-repeat superfamily, containing two evolutionary conserved domains--broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domain, and kelch motif [1].
• Despite the multiplicity of kelch-like proteins in orthopoxviruses, their function is still vague [2].
• Effects of deletions of kelch-like genes on cowpox virus biological properties [3].

High impact information on KLHL1

• KLHL1/MRP2 Mediates Neurite Outgrowth in a Glycogen Synthase Kinase 3{beta}-Dependent Manner [4].
• The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1) [5].
• Transfection studies with epitope-tagged KLHL1 demonstrate that the protein localizes to the cytoplasm, suggesting that it may play a role in organizing the actin cytoskeleton of the brain cells in which it is expressed [5].
• Novel kelch-like protein, KLEIP, is involved in actin assembly at cell-cell contact sites of Madin-Darby canine kidney cells [6].
• NS1-BP contains an N-terminal BTB/POZ domain and five kelch-like tandem repeat elements of approximately 50 amino acids [7].

Biological context of KLHL1

• Human and mouse KLHL1AS are transcribed from homologous promoter regions in the first intron of KLHL1 and extend through the transcription and translation start sites as well as the first splice donor sequence of KLHL1 [8].
• In this study, a novel gene, kelchlike (klhl) was identified in zebrafish by whole-mount in situ hybridization screen for important genes involved in embryogenesis [1].

Anatomical context of KLHL1

• The mammalian KLHL1 is brain-specific, cytosolic and can form multimers and bind actin filaments [9].
• A novel zebrafish kelchlike gene klhl and its human ortholog KLHL display conserved expression patterns in skeletal and cardiac muscles [1].
• Northern blot analyses show that the human ortholog, KLHL, is also specifically expressed in the skeletal muscles and heart [1].
• In pre-chondrogenic cell line ATDC5 cells, furthermore, expression of Nrf2 mRNA was also confirmed together with mRNA expression of the Kelch-like ECH associating protein 1 and small Maf proteins [10].
• Specific over-expression of deltex and a new Kelch-like protein in human germinal center B cells [11].

Other interactions of KLHL1

• Identification and characterization of a novel kelch-like gene KLHL15 in silico [12].

Analytical, diagnostic and therapeutic context of KLHL1

• Similarly, co-immunoprecipitation experiments in HEK cells and brain tissue exposed the presence of KLHL1 in protein samples immunoprecipitated with FLAG-tagged or alpha(1A) antibodies [9].

References