SLC41A1

Last updated
SLC41A1
Identifiers
Aliases SLC41A1 , MgtE, solute carrier family 41 member 1, NPHPL2
External IDs OMIM: 610801 MGI: 2444823 HomoloGene: 14871 GeneCards: SLC41A1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_173854

NM_173865

RefSeq (protein)

NP_776253

NP_776290

Location (UCSC) Chr 1: 205.79 – 205.81 Mb Chr 1: 131.76 – 131.78 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

SLC41A1 is a protein that in humans is encoded by the gene SLC41A1. [5] It is homologous to the prokaryotic Mg++ transfer protein MgtE [6]

Mutations in this gene have been associated to Nephronophthisis-like phenotypes. [7]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000133065 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000013275 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Wabakken T, Rian E, Kveine M, Aasheim HC (July 2003). "The human solute carrier SLC41A1 belongs to a novel eukaryotic subfamily with homology to prokaryotic MgtE Mg2+ transporters". Biochemical and Biophysical Research Communications. 306 (3): 718–24. doi:10.1016/S0006-291X(03)01030-1. PMID   12810078.
  6. Goytain A, Quamme GA (May 2005). "Functional characterization of human SLC41A1, a Mg2+ transporter with similarity to prokaryotic MgtE Mg2+ transporters". Physiological Genomics. 21 (3): 337–42. doi:10.1152/physiolgenomics.00261.2004. PMID   15713785.
  7. Hurd TW, Otto EA, Mishima E, Gee HY, Inoue H, Inazu M, et al. (May 2013). "Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype". Journal of the American Society of Nephrology. 24 (6): 967–77. doi:10.1681/ASN.2012101034. PMC   3665398 . PMID   23661805.