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FLASH GENE
Symbol KLHL3 contributors: mct - updated : 24-09-2014
HGNC name kelch-like 3 (Drosophila)
HGNC id 6354
Corresponding disease
PHA2D pseudohypoaldosteronism, type IID
Location 5q31.2      Physical location : 136.953.189 - 137.071.779
Synonym symbol(s) KIAA1129, EVI131, PHA2D
DNA
TYPE functioning gene
STRUCTURE 197.12 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - CSF2 - IL9 - D5S393 - D5S89 - D5S399 - D5S479 - SPOCK - D5S1983 - KLHL3 - HNRPA0 - NPY6R - MYOT - PKD2L2 - C5orf5 - NME5 - KIF20A - CDC23 - GFRA3 - D5S414 - CDC25C - FAM53C - JMJD1B - EGR1 - ETF1 - D6S500 - CD14 - FGF1 - qter
Authors Lai (00, 01)
Text see TSG5D
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 6806 - 587 - 2000 1084380
15 - 6981 - 555 - 2000 1084380
13 - 6557 - 505 - 2000 1084380
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal unique domain homolog to Drosophila oocyte maturation ring canal, a BTB domain, and a BACK domain
  • a poxvirus zinc finger protein, protein interaction domain
  • a C-terminal kelch-like repeats that form a six-bladed beta-propeller structure
  • mono polymer polymer
    HOMOLOGY
    interspecies homolog to Drosophila kelch
    intraspecies homolog to Mayven KLHL2
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • fundamental role for KLHL3 and CUL3 in blood pressure, K+ and pH homeostasis
  • role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure
  • specific role of CUL3 and KLHL3 in electrolyte homeostasis, providing a molecular explanation for the effects of disease-causing mutations in both KLHL3 and WNK4
  • is a substrate adaptor for WNK4 in a ubiquitin E3 ligase complex
  • CELLULAR PROCESS cell cycle, division
    PHYSIOLOGICAL PROCESS reproduction/sex
    text oocyte maturation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • WNK4 is a target for KLHL3-mediated ubiquitination, and the impaired ubiquitination of WNK4 is a common mechanism of human hereditary hypertension
  • inhibited the positive effect of WNK4 on Na(+)-Cl(-) cotransporter (NCC) by decreasing WNK4 protein abundance
  • WNK4 is a substrate for KLHL3-CUL3 E3 ubiquitin ligase complexes
  • CUL3 has the ability to bind to Kelch-like 3 protein (KLHL3) and therefore mediating the degradation of some members of the WNK kinases
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PHA2D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS