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    SLC41A1 solute carrier family 41 member 1 [ Homo sapiens (human) ]

    Gene ID: 254428, updated on 28-Oct-2024

    Summary

    Official Symbol
    SLC41A1provided by HGNC
    Official Full Name
    solute carrier family 41 member 1provided by HGNC
    Primary source
    HGNC:HGNC:19429
    See related
    Ensembl:ENSG00000133065 MIM:610801; AllianceGenome:HGNC:19429
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MgtE; NPHPL2
    Summary
    Enables magnesium:sodium antiporter activity. Involved in cellular response to magnesium ion; intracellular magnesium ion homeostasis; and magnesium ion transmembrane transport. Located in basolateral plasma membrane. Part of protein-containing complex. Implicated in nephronophthisis. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in heart (RPKM 55.1), testis (RPKM 27.0) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC41A1 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205789095..205813198, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (205053767..205077853, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205758223..205782326, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nuclear casein kinase and cyclin dependent kinase substrate 1 Neighboring gene small nucleolar RNA SNORA72 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205708952-205709557 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205709558-205710164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205711268-205711871 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205711872-205712474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2389 Neighboring gene RAB29, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205769142-205770092 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:205779391-205779622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205782120-205782620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205803433-205803932 Neighboring gene peptidase M20 domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 4160 Neighboring gene uncharacterized LOC107985250

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Nephronophthisis-like nephropathy 2
    MedGen: C5561953 OMIM: 619468 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
    EBI GWAS Catalog
    Genetic variants at 1q32.1, 10q11.2 and 19q13.41 are associated with prostate-specific antigen for prostate cancer screening in two Korean population-based cohort studies.
    EBI GWAS Catalog
    Genome-wide association study identified novel genetic variant on SLC45A3 gene associated with serum levels prostate-specific antigen (PSA) in a Chinese population.
    EBI GWAS Catalog
    Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
    EBI GWAS Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cellular response to magnesium ion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cellular response to magnesium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular magnesium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in magnesium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in magnesium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in magnesium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in magnesium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in metal ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    solute carrier family 41 member 1
    Names
    solute carrier family 41 (magnesium transporter), member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_173854.6NP_776253.3  solute carrier family 41 member 1

      See identical proteins and their annotated locations for NP_776253.3

      Status: VALIDATED

      Source sequence(s)
      AC119673, BC136303, BX641054, BX648979, DA496198, HY148928
      Consensus CDS
      CCDS30988.1
      UniProtKB/Swiss-Prot
      Q63HJ4, Q658Z5, Q659A4, Q6MZK2, Q8IVJ1
      UniProtKB/TrEMBL
      A0A024R988, B2RMP2
      Related
      ENSP00000356105.3, ENST00000367137.4
      Conserved Domains (1) summary
      pfam01769
      Location:139270
      MgtE; Divalent cation transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      205789095..205813198 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416887.1XP_047272843.1  solute carrier family 41 member 1 isoform X1

      UniProtKB/Swiss-Prot
      Q63HJ4, Q658Z5, Q659A4, Q6MZK2, Q8IVJ1
      UniProtKB/TrEMBL
      A0A024R988, B2RMP2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      205053767..205077853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335765.1XP_054191740.1  solute carrier family 41 member 1 isoform X1

      UniProtKB/Swiss-Prot
      Q63HJ4, Q658Z5, Q659A4, Q6MZK2, Q8IVJ1
      UniProtKB/TrEMBL
      A0A024R988, B2RMP2