Disease relevance of SLC4A1AP

• As such, defects in kanadaptin and its interaction with kAE1 are unlikely to be involved in the pathogenesis of the inherited kidney disease, distal renal tubular acidosis (dRTA) [1].

High impact information on SLC4A1AP

• Kanadaptin is widely expressed in epithelial (kidney, lung, and liver) and non-epithelial cells (brain and skeletal and cardiac muscle) [2].
• That these effects were specific was implied by the fact that a number of other coexpressed karyophilic GFP-fusion proteins, such as the nucleoporin NUP98 and kanadaptin, did not coaggregate with FLAG-lamin A N195K or R386K [3].
• Trafficking of kAE1 from its site of synthesis in the endoplasmic reticulum to the plasma membrane was unaffected by co-expression of human kanadaptin [1].
• Kanadaptin was co-localized with kAE1 in intracellular membranes but not at the plasma membrane in alpha-intercalated cells of rabbit kidney [1].
• The role of the different NLSs is examined in transfection studies using plasmids encoding full-length kanadaptin with or without green fluorescent protein (GFP) as a fusion tag, as well as truncation derivatives thereof [4].

Biological context of SLC4A1AP

• Utilizing an interspecies heterokaryon assay, we could further demonstrate that kanadaptin has nuclear export activity [5].
• In this study, we provide evidence, that kanadaptin is widely expressed in many tissues and that expression of kanadaptin in the mouse occurs early in embryonic development [5].

Anatomical context of SLC4A1AP

• It was suggested that kanadaptin is an adaptor protein or chaperone involved in targeting kAE1 to the plasma membrane [1].
• In the present study, we use immunofluorescence and subcellular fractionation approaches to demonstrate that kanadaptin is localized within the nuclei of various epithelial and non-epithelial cultured cell types [4].
• Initial studies suggested, that in the kidney of the rabbit kanadaptin is expressed exclusively in all epithelial cells of the collecting duct [5].
• Immunostaining revealed localization of kanadaptin in two subcellular locations, nuclei and mitochondria [5].

Analytical, diagnostic and therapeutic context of SLC4A1AP

• In kidney, we found by immunocytochemistry that kanadaptin was only expressed in the collecting tubule [2].
• Moreover, we found that no interaction between human kanadaptin and kAE1 or eAE1 could be detected in co-transfected cells either by co-immunoprecipitation or by histidine6-tagged co-purification [1].
• Mitochondrial localization of kanadaptin was further documented by immunoblotting of mitochondria-enriched cellular fractions [5].

References