SLC41A1

solute carrier family 41 member 1

Ensembl:
ENSG00000133065
UniProt:
Q8IVJ1
Synonyms:
MGTE

Cilia effects upon perturbation of SLC41A1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.35) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
nephronophthisis

Ciliopathy associations

  • Hydrocephalus
  • Nephronophthisis

Subcellular localization

cilia associated gene, mitochondria

Functional category

  • Motile cilium & axoneme

Function

Whole-exome capture revealed a homozygous splice acceptor site mutation (c.698G>T) in the renal Mg2+ transporter SLC41A1. This mutation resulted in skipping of exon 6 of SLC41A1, resulting in an in-frame deletion of a transmembrane helix. Transfection of cells with wild-type or mutant SLC41A1 revealed that deletion of exon 6 completely blocks the Mg2+ transport function of SLC41A1. Furthermore, in normal human kidney tissue, endogenous SLC41A1 specifically localized to renal tubules situated at the corticomedullary boundary, consistent with the region of cystogenesis observed in NPHP and related ciliopathies. Last, morpholino-mediated knockdown of slc41a1 expression in zebrafish resulted in ventral body curvature, hydrocephalus, and cystic kidneys, similar to the effects of knocking down other NPHP genes(PMID: 23661805).

Model organism evidence

Danio rerio (1 reference)

Furthermore, in normal human kidney tissue, endogenous SLC41A1 specifically localized to renal tubules situated at the corticomedullary boundary, consistent with the region of cystogenesis observed in NPHP and related ciliopathies.

PMIDs: 23661805