SLC41A1

SLC41A1
Identifiers
Aliases	SLC41A1, MgtE, solute carrier family 41 member 1, NPHPL2
External IDs	OMIM: 610801; MGI: 2444823; GeneCards: SLC41A1
Gene location (Human)
Chr.	Chromosome 1 (human)
End	205,813,748 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	131,776,603 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; cardiac muscle tissue of right atrium; ; apex of heart; ; right ventricle; ; right auricle of heart; ; 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
	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
Databases	NCBI: entry; OMA: entry
	254428
	98396
	ENSG00000133065
	ENSMUSG00000013275
	Q8IVJ1
	Q8BJA2
	NM_173854
	NM_173865
	NP_776253
	NP_776290
	Wikidata
View/Edit Human	View/Edit Mouse

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

Mutations in this gene have been associated with Nephronophthisis-like phenotypes.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000133065 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000013275 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
↑ 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.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000133065 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid12810078-5] 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.

[pmid15713785-6] 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.

[pmid23661805-7] 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.