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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alzheimer's Disease-Associated SNP rs708727 in SLC41A1 May Increase Risk for Parkinson's Disease: Report from Enlarged Slovak Study.
Title: Alzheimer's Disease-Associated SNP rs708727 in <i>SLC41A1</i> May Increase Risk for Parkinson's Disease: Report from Enlarged Slovak Study.
Knockdown of SLC41A1 magnesium transporter promotes mineralization and attenuates magnesium inhibition during osteogenesis of mesenchymal stromal cells.
Title: Knockdown of SLC41A1 magnesium transporter promotes mineralization and attenuates magnesium inhibition during osteogenesis of mesenchymal stromal cells.
The association of rs11240569 polymorphism in SLC41A1 gene with reduced risk of Parkinson's Disease was replicated in our population.
Title: Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population.
Authors performed direct DNA sequencing of the SLC41A1 gene in 100 early-onset PD cases.
Title: Genetic analysis of SLC41A1 in Chinese Parkinson's disease patients.
Na+-dependent Mg2+ efflux conducted by Na+/Mg2+ exchanger SLC41A1 is regulated by insulin.
Title: Insulin Modulates the Na+/Mg2+ Exchanger SLC41A1 and Influences Mg2+ Efflux from Intracellular Stores in Transgenic HEK293 Cells.
This study has shown loss of Mg(2+) efflux function consequent to SLC41A1 R244H variant and SLC41A1 coding variants seem to be rare in Taiwanese Parkinson disease.
Title: Variant R244H in Na+/Mg2+ exchanger SLC41A1 in Taiwanese Parkinson's disease is associated with loss of Mg2+ efflux function.
SLC41A1 is significantly overexpressed in nearly 55% of preeclamptic placentas
Title: SLC41A1 is the only magnesium responsive gene significantly overexpressed in placentas of preeclamptic women.
Binding partners of SLC41A1, were identified.
Title: Nature of SLC41A1 complexes: report on the split-ubiquitin yeast two hybrid assay.
Alanine350Valine substitution in Na/Mg(2) exchanger SLC41A1, potentially associated with Parkinson's disease, is a gain-of-function mutation.
Title: Substitution p.A350V in Na⁺/Mg²⁺ exchanger SLC41A1, potentially associated with Parkinson's disease, is a gain-of-function mutation.
In normal human kidney tissue, endogenous SLC41A1 specifically localized to renal tubules situated at the corticomedullary boundary, consistent with the region of cystogenesis observed in nephronophthisis.
Title: Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2156 (e-PCR)
- UniSTS:73736

SHGC-76224 (e-PCR)
- UniSTS:61737

SHGC-76247 (e-PCR)
- UniSTS:30108

SHGC-76236 (e-PCR)
- UniSTS:61672

G59533 (e-PCR)
- UniSTS:136695

Homology

Homologs of the SLC41A1 gene: The SLC41A1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, C.elegans, and frog.
Orthologs from Annotation Pipeline: 435 organisms have orthologs with human gene SLC41A1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables inorganic cation transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables magnesium ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion transmembrane transporter activity	TAS Traceable Author Statement more info
enables magnesium:sodium antiporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

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

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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.