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SLC41A1

From Wikipedia, the free encyclopedia
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
Band1q32.1Start205,789,094bp[1]
End205,813,748bp[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 E4Start131,755,231bp[2]
End131,776,603bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
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 proteinMgtE[6]

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

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000133065Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000013275Ensembl, 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.
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