SLC41A1

Protein-coding gene in the species Homo sapiens
SLC41A1
Identifiers
AliasesSLC41A1, MgtE, solute carrier family 41 member 1, NPHPL2
External IDsOMIM: 610801; MGI: 2444823; HomoloGene: 14871; GeneCards: SLC41A1; OMA:SLC41A1 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for SLC41A1
Genomic location for SLC41A1
Band1q32.1Start205,789,094 bp[1]
End205,813,748 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for SLC41A1
Genomic location for SLC41A1
Band1|1 E4Start131,755,231 bp[2]
End131,776,603 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right ventricle

  • tibialis anterior muscle

  • body of tongue

  • body of pancreas

  • vena cava

  • deltoid muscle

  • quadriceps femoris muscle

  • left lobe of thyroid gland

  • gastrocnemius muscle

  • vastus lateralis muscle
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
SpeciesHumanMouse
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 MbChr 1: 131.76 – 131.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000133065 – Ensembl, May 2017
  2. ^ a b c 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.