SLC41A1

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]

SLC41A1
Identifiers
Aliases	SLC41A1, MgtE, solute carrier family 41 member 1, NPHPL2
External IDs	OMIM: 610801; MGI: 2444823; HomoloGene: 14871; GeneCards: SLC41A1; OMA:SLC41A1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q32.1 Start 205,789,094 bp[1] End 205,813,748 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 E4 Start 131,755,231 bp[2] End 131,776,603 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in myocardium of left ventricle cardiac muscle tissue of right atrium apex of heart right ventricle right auricle tibialis anterior muscle body of tongue body of pancreas vena cava Skeletal muscle tissue of biceps brachii Top expressed in extraocular muscle digastric muscle saccule stria vascularis optic nerve soleus muscle thoracic diaphragm sternocleidomastoid muscle ciliary body plantaris muscle More reference expression data BioGPS n/a
Gene ontology Molecular function cation transmembrane transporter activity magnesium ion transmembrane transporter activity magnesium:sodium antiporter activity transmembrane transporter activity Cellular component integral component of membrane membrane plasma membrane basolateral plasma membrane protein-containing complex Biological process cation transport ion transport sodium ion transmembrane transport magnesium ion transmembrane transport cellular magnesium ion homeostasis magnesium ion transport cellular response to magnesium ion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 254428 98396 Ensembl ENSG00000133065 ENSMUSG00000013275 UniProt Q8IVJ1 Q8BJA2 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

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

References

1. GRCh38: Ensembl release 89: ENSG00000133065 – Ensembl, May 2017
2. 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.