Gene Gene information from NCBI Gene database.
Entrez ID 254428
Gene name Solute carrier family 41 member 1
Gene symbol SLC41A1
Synonyms (NCBI Gene)
MgtENPHPL2
Chromosome 1
Chromosome location 1q32.1
miRNA miRNA information provided by mirtarbase database.
348
miRTarBase ID miRNA Experiments Reference
MIRT653521 hsa-miR-224-5p HITS-CLIP 23824327
MIRT061952 hsa-miR-1250-3p HITS-CLIP 23824327
MIRT653520 hsa-miR-153-5p HITS-CLIP 23824327
MIRT653519 hsa-miR-205-5p HITS-CLIP 23824327
MIRT653518 hsa-miR-3124-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 18367447, 22031603, 23976986
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610801 19429 ENSG00000133065
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IVJ1
Protein name Solute carrier family 41 member 1
Protein function Na(+)/Mg(2+) ion exchanger that acts as a predominant Mg(2+) efflux system at the plasma membrane (PubMed:18367447, PubMed:22031603, PubMed:23661805, PubMed:23976986). Transporter activity is driven by the inwardly directed electrochemical gradi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01769 MgtE 139 273 Divalent cation transporter Family
PF01769 MgtE 353 497 Divalent cation transporter Family
Tissue specificity 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. In the kidney, it is expressed
Sequence
MSSKPEPKDVHQLNGTGPSASPCSSDGPGREPLAGTSEFLGPDGAGVEVVIESRANAKGV
REEDALLENGSQSNESDDVSTDRGPAPPSPLKETSFSIGLQVLFPFLLAGFGTVAAGMVL
DIVQHWEVFQKVTEVFILVPALLGLKGNLEMTLASRLSTAANIGHMDTPKELWRMITGNM
ALIQVQATVVGFLASIAAVVFGWIPDGHFSIPHAFLLCASSVATAFIASLVLGMIMIGVI
IGSRKIGINPDNVATPIAASLGDLITLALLSGI
SWGLYLELNHWRYIYPLVCAFFVALLP
VWVVLARRSPATREVLYSGWEPVIIAMAISSVGGLILDKTVSDPNFAGMAVFTPVINGVG
GNLVAVQASRISTFLHMNGMPGENSEQAPRRCPSPCTTFFSPDVNSRSARVLFLLVVPGH
LVFLYTISCMQGGHTTLTLIFIIFYMTAALLQVLILLYIADWMVHWMWGRGLDPDNFSIP
YLTALGDLLGTGLLALS
FHVLWLIGDRDTDVGD
Sequence length 513
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Metal ion SLC transporters
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Nephronophthisis-like nephropathy 2 Pathogenic rs2102504055 RCV001554331
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
KIDNEY DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY DISORDER ClinGen, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 35163527 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 39628683 Stimulate
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 23661805
★☆☆☆☆
Found in Text Mining only
Cystic kidney Cystic Kidney Disease BEFREE 23661805
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 25733456 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 25733456
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 22031603 Associate
★☆☆☆☆
Found in Text Mining only
Magnesium Deficiency Magnesium Deficiency BEFREE 15713785
★☆☆☆☆
Found in Text Mining only
Magnesium Deficiency Magnesium Deficiency LHGDN 15713785
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 31076559
★☆☆☆☆
Found in Text Mining only