Description
Product Characteristics:
KLHL3 protein contains a poxvirus and zinc finger domain at the N-terminus and six tandem repeats (kelch repeats) at the C-terminus. At the amino acid level, KLHL3 shares 77 % similarity with Drosophila kelch and 89 % similarity with Mayven (KLHL2), another human kelch homolog. At least three isoforms are produced and may be the result of alternative promoter usage. The KLHL3 maps within the smallest commonly deleted segment in myeloid leukemias characterized by a deletion of 5q, however, no inactivating mutations of KLHL3 could be detected in malignant myeloid disorders with loss of 5q.
Subcellular location: Cytoplasm
Synonyms: KLHL 3, FLJ40871, kelch Drosophila like 3, kelch like 3 Drosophila, kelch like 3, Kelch like protein 3, KIAA1129, MGC44594, KLHL3_HUMAN.
Target Information: 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. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D)\, a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]