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SLC41A1 Gene

protein-coding   GIFtS: 53
GCID: GC01M205758

Solute Carrier Family 41 (Magnesium Transporter), Member...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 41 (Magnesium Transporter), Member 11 2
MgtE2
Solute Carrier Family 41 Member 12
Solute Carrier Family 41, Member 12

External Ids:    HGNC: 194291   Entrez Gene: 2544282   Ensembl: ENSG000001330657   OMIM: 6108015   UniProtKB: Q8IVJ13   

Export aliases for SLC41A1 gene to outside databases

Previous GC identifers: GC01M201219 GC01M202119 GC01M202935 GC01M202489 GC01M204025 GC01M176922


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SLC41A1 Gene:
SLC41A1 (solute carrier family 41 (magnesium transporter), member 1) is a protein-coding gene. Diseases associated with SLC41A1 include nephronophthisis, and azoospermia. GO annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SLC41A3.

UniProtKB/Swiss-Prot: S41A1_HUMAN, Q8IVJ1
Function: Acts as a magnesium transporter that is responsive to magnesium balance




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC41A1 gene promoter:
         Egr-3   STAT1   Tal-1   STAT1beta   E47   STAT1alpha   CBF-A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC41A1 promoter sequence
   Search Chromatin IP Primers for SLC41A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC41A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

SLC41A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC41A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M205758:  view genomic region     (about GC identifiers)

Start:
205,758,221 bp from pter      End:
205,782,876 bp from pter
Size:
24,656 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: S41A1_HUMAN, Q8IVJ1 (See protein sequence)
Recommended Name: Solute carrier family 41 member 1  
Size: 513 amino acids; 54901 Da
Secondary accessions: Q63HJ4 Q658Z5 Q659A4 Q6MZK2

Explore the universe of human proteins at neXtProt for SLC41A1: NX_Q8IVJ1

Explore proteomics data for SLC41A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys170
  • Modification sites at PhosphoSitePlus

  • See SLC41A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_776253.3  
    ENSEMBL proteins: 
     ENSP00000356105  
    Reactome Protein details: Q8IVJ1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: MgtE
    SLC41 family of divalent cation transporters

    1 InterPro protein domain:
     IPR006667 SLC41_membr_dom

    Graphical View of Domain Structure for InterPro Entry Q8IVJ1

    ProtoNet protein and cluster: Q8IVJ1

    UniProtKB/Swiss-Prot: S41A1_HUMAN, Q8IVJ1
    Similarity: Belongs to the SLC41A transporter family


    SLC41A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S41A1_HUMAN, Q8IVJ1
    Function: Acts as a magnesium transporter that is responsive to magnesium balance

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008324cation transmembrane transporter activity IEA--
         
    SLC41A1 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    hsa-miR-361-5p hsa-miR-3607-3p hsa-miR-4254 hsa-miR-106a hsa-miR-219-5p hsa-miR-650 hsa-miR-371-5p hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidSLC41A1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S41A1_HUMAN, Q8IVJ1: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--

    SLC41A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC41A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47
    2Metal ion SLC transporters
    Metal ion SLC transporters

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for SLC41A1
        Metal ion SLC transporters



    SLC41A1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC41A1
    Interactions:

        Search GeneGlobe Interaction Network for SLC41A1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SLC41A1 (ENSP000003561054) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0055085transmembrane transport TAS--

    SLC41A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC41A1 (S41A1)

    1 HMDB Compound for SLC41A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC41A1 gene: 
    NM_173854.4  

    Unigene Cluster for SLC41A1:

    Solute carrier family 41, member 1
    Hs.20274  [show with all ESTs]
    Unigene Representative Sequence: BX648979
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367137(uc001hdg.1 uc001hdh.1) ENST00000468057 ENST00000484228
    ENST00000484000
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SLC41A1 (see all 54):
    hsa-miR-361-5p hsa-miR-3607-3p hsa-miR-4254 hsa-miR-106a hsa-miR-219-5p hsa-miR-650 hsa-miR-371-5p hsa-miR-519a
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC41A1
      QuantiFast Probe-based Assays in human, mouse, rat SLC41A1

    Additional mRNA sequence: 

    AJ514402.1 AK092123.1 AK125075.1 AK128069.1 AK314732.1 AL831974.1 AL832001.1 AL832362.1 
    BC136303.1 BX641054.1 BX648979.1 

    8 DOTS entries:

    DT.442034  DT.100784460  DT.101984204  DT.121367732  DT.100025762  DT.100736660  DT.121367752  DT.91704126 

    Selected AceView cDNA sequences (see all 137):

    AK128069 CB044418 BU726174 BM665672 AA278332 AA280164 AA135456 CD672809 
    BQ949970 BQ706265 AW294649 AA767685 AW873528 AI983661 BM817551 BM783173 
    BU620186 BM479231 BQ221659 AI366046 AL832001 AL041552 AA603046 NM_173854 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC41A1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
    SP1:                                                                                -                           
    SP2:                    -     -     -                                               -                           
    SP3:                                -                                                                           
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for SLC41A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC41A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTTTTGGC
    SLC41A1 Expression
    About this image


    SLC41A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Skeletal Muscle (Muscoskeletal System)
             Extraocular Muscles
    SLC41A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC41A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.20274

    UniProtKB/Swiss-Prot: S41A1_HUMAN, Q8IVJ1
    Tissue specificity: Highest expression levels in heart and testis, slightly less in skeletal muscles, prostate,
    adrenal gland and thyroid, and weakest in the hematopoietic tissues bones marrow, lymph node, thymus and spleen

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC41A1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc41a11 , 5 solute carrier family 41, member 11, 5 91.73(n)1
    97.85(a)1
      1 (57.20 cM)5
    983961  NM_173865.31  NP_776290.11 
     1318274935 
    chicken
    (Gallus gallus)
    Aves SLC41A11 solute carrier family 41, member 1 78.88(n)
    86.94(a)
      419837  XM_417968.4  XP_417968.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC41A16
    solute carrier family 41 (magnesium transporter), ...
    85(a)
    1 ↔ 1
    GL343228.1(670549-711359)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX851794.12   -- 76.66(n)    BX851794.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570586332   -- 74.5(n)    57058633 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG331816
    --
    29(a)
    1 → many
    X(8383381-8411062)
    worm
    (Caenorhabditis elegans)
    Secernentea K07H8.21 K07H8.2 52.61(n)
    49.88(a)
      177623  NM_068992.3  NP_501393.1 


    ENSEMBL Gene Tree for SLC41A1 (if available)
    TreeFam Gene Tree for SLC41A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC41A1 gene
    SLC41A32  SLC41A22  
    2 SIMAP similar genes for SLC41A1 using alignment to 2 protein entries:     S41A1_HUMAN (see all proteins):
    SLC41A2    SLC41A3

    SLC41A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC41A1 (see all 467)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1901639211,2
    --205757768(+) TTTCTA/GTCACA 1 -- ds50010--------
    rs1445039951,2
    C--205757799(+) GTTTC-/TTT   
       
    /TTTT
    CTTTT
    2 -- ds5001 cds10--------
    rs2000005741,2
    --205757799(+) TGTTT-/CCTTTT 1 -- ds50010--------
    rs106820431,2
    C--205757800(+) TTTTT-/T/TT  
      T
    /TTTT
    GAGAT
    2 -- ds5001 cds11CSA 2
    rs127474751,2
    C,F,H--205757800(+) GTTTCT/CTTTTT 1 -- ds500111Minor allele frequency- C:0.50NS EA 1664
    rs17751481,2
    C,F,A--205757824(+) AGTCTC/TGTTCT 1 -- ds50013Minor allele frequency- T:0.09MN WA NA 188
    rs1131555231,2
    C,F--205757897(+) AAGTGG/ATTCTC 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1385711261,2
    C--205757949(+) CACCAC/TACCTG 1 -- ds50010--------
    rs1812599841,2
    C--205757960(+) ACTAAC/TTTTTG 1 -- ds50010--------
    rs1853208341,2
    C--205758034(+) GATCCG/TCCCGC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC41A1 (205758221 - 205782876 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SLC41A1: --
    Human Gene Mutation Database (HGMD): SLC41A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC41A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC41A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610801    OMIM disorders: --

    5 diseases for SLC41A1:    
    About MalaCards
    nephronophthisis    azoospermia    parkinson's disease    thyroiditis
    prostatitis


    SLC41A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC41A1
    Human Genome Epidemiology (HuGE) Navigator: SLC41A1 (1 document)

    Export disorders for SLC41A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC41A1 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with SLC41A1)
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    1. The human solute carrier SLC41A1 belongs to a novel eukaryotic subfamily with homology to prokaryotic MgtE Mg2+ transporters. (PubMed id 12810078)1, 2, 3, 9 Wabakken T.... Aasheim H.-C. (Biochem. Biophys. Res. Commun. 2003)
    2. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (PubMed id 21738487)1, 4 Do C.B....Eriksson N. (PLoS Genet. 2011)
    3. Genetic variability at the PARK16 locus. (PubMed id 20683486)1, 4 Tucci A....PaisA!n-Ruiz C. (Eur. J. Hum. Genet. 2010)
    4. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. (PubMed id 19915576)1, 4 Satake W....Toda T. (Nat. Genet. 2009)
    5. SLC41A1 is a novel mammalian Mg2+ carrier. (PubMed id 18367447)1, 3 Kolisek M....Schweigel M. (J. Biol. Chem. 2008)
    6. Functional characterization of human SLC41A1, a Mg2+ transporter with similarity to prokaryotic MgtE Mg2+ transporters. (PubMed id 15713785)1, 2 Goytain A. and Quamme G.A. (Physiol. Genomics 2005)
    7. Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population. (PubMed id 23269536)1 Sun J....Mo Z. (Hum. Genet. 2013)
    8. Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. (PubMed id 23661805)1 Hurd T.W....Hildebrandt F. (J. Am. Soc. Nephrol. 2013)
    9. Human gene SLC41A1 encodes for the Na+/MgA^+ exchanger. (PubMed id 22031603)1 Kolisek M....Schweigel-RAPntgen M. (Am. J. Physiol., Cell Physiol. 2012)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 254428 HGNC: 19429 AceView: SLC41A1 Ensembl:ENSG00000133065 euGenes: HUgn254428
    ECgene: SLC41A1 H-InvDB: SLC41A1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLC41A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for SLC41A1 gene:
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