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

Gene ID: 254428, updated on 22-Sep-2022

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 ion transmembrane transporter activity and magnesium:sodium antiporter activity. Involved in cellular magnesium ion homeostasis; cellular response to magnesium ion; and magnesium ion transmembrane transport. Located in basolateral plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in heart (RPKM 55.1), testis (RPKM 27.0) and 20 other tissues See more
Orthologs
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Genomic context

See SLC41A1 in Genome Data Viewer
Location:
1q32.1
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205789095..205813198, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (205053767..205077853, complement)
105.20220307 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 RAB29, member RAS oncogene family 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
  • 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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cellular magnesium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 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
PubMed 
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)

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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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    Q6MZK2
    UniProtKB/TrEMBL
    A0A024R988

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

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