SLC41A1
entrez
254428
canonical
uniprot
Q8IVJ1
canonical
ensembl
ENSG00000133065
resolver
ensp
ENSP00000356105
resolver
ensp
ENSP00000581185
resolver
ensp
ENSP00000581186
resolver
ensp
ENSP00000581187
resolver
ensp
ENSP00000607938
resolver
ensp
ENSP00000618654
resolver
ensp
ENSP00000618657
resolver
ensp
ENSP00000618658
resolver
ensp
ENSP00000618659
resolver
enst
ENST00000367137
resolver
enst
ENST00000911126
resolver
enst
ENST00000911127
resolver
enst
ENST00000911128
resolver
enst
ENST00000937879
resolver
enst
ENST00000948595
resolver
enst
ENST00000948598
resolver
enst
ENST00000948599
resolver
enst
ENST00000948600
resolver
genesymbol
SLC41A1
resolver
hgnc
HGNC:19429
resolver
uniprot
A0A024R988
resolver
uniprot
B2RMP2
resolver
uniprot
Q63HJ4
resolver
uniprot
Q658Z5
resolver
uniprot
Q659A4
resolver
uniprot
Q6MZK2
resolver
uniprot_entry
B2RMP2_HUMAN
resolver
uniprot_entry
S41A1_HUMAN
resolver
uniprot_sec
A0A024R988
resolver
uniprot_sec
Q63HJ4
resolver
uniprot_sec
Q658Z5
resolver
uniprot_sec
Q659A4
resolver
uniprot_sec
Q6MZK2
resolver
activity_regulation
ACTIVITY REGULATION: The exchange activity is regulated by phosphorylation in a cyclic AMP signaling-dependent way (PubMed:22031603, PubMed:23661805). Temperature-sensitive, reduction or elevation of the temperature significantly decreases or increases its activity respectively (PubMed:18367447). {ECO:0000269|PubMed:18367447, ECO:0000269|PubMed:22031603, ECO:0000269|PubMed:23976986}.
uniprot
proteins
amino_acid_sequence
MSSKPEPKDVHQLNGTGPSASPCSSDGPGREPLAGTSEFLGPDGAGVEVVIESRANAKGVREEDALLENGSQSNESDDVSTDRGPAPPSPLKETSFSIGLQVLFPFLLAGFGTVAAGMVLDIVQHWEVFQKVTEVFILVPALLGLKGNLEMTLASRLSTAANIGHMDTPKELWRMITGNMALIQVQATVVGFLASIAAVVFGWIPDGHFSIPHAFLLCASSVATAFIASLVLGMIMIGVIIGSRKIGINPDNVATPIAASLGDLITLALLSGISWGLYLELNHWRYIYPLVCAFFVALLPVWVVLARRSPATREVLYSGWEPVIIAMAISSVGGLILDKTVSDPNFAGMAVFTPVINGVGGNLVAVQASRISTFLHMNGMPGENSEQAPRRCPSPCTTFFSPDVNSRSARVLFLLVVPGHLVFLYTISCMQGGHTTLTLIFIIFYMTAALLQVLILLYIADWMVHWMWGRGLDPDNFSIPYLTALGDLLGTGLLALSFHVLWLIGDRDTDVGD
uniprot
proteins
disease_involvement
DISEASE: Nephronophthisis-like nephropathy 2 (NPHPL2) [MIM:619468]: A disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. NPHPL2 is an autosomal recessive form characterized by onset of progressive renal insufficiency in the first decades of life. {ECO:0000269|PubMed:23661805}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 gradient for Na(+) ions, thus directly depends on the extracellular Na(+) ion concentration set by Na(+)/K(+) pump (PubMed:22031603, PubMed:23661805). Generates circadian cellular Mg(2+) fluxes that feed back to regulate clock-controlled gene expression and metabolism and facilitate higher energetic demands during the day (PubMed:27074515). Has a role in regulating the activity of ATP-dependent enzymes, including those operating in Krebs cycle and the electron transport chain (By similarity). {ECO:0000250|UniProtKB:Q8BJA2, ECO:0000269|PubMed:18367447, ECO:0000269|PubMed:22031603, ECO:0000269|PubMed:23661805, ECO:0000269|PubMed:23976986, ECO:0000269|PubMed:27074515}.
uniprot
proteins
mass_dalton
54901
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000269|PubMed:22031603}.
uniprot
proteins
protein_family
SLC41A transporter family
uniprot
proteins
pubmed
12810078
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18367447
uniprot
proteins
pubmed
22031603
uniprot
proteins
pubmed
23661805
uniprot
proteins
pubmed
23976986
uniprot
proteins
pubmed
27074515
uniprot
proteins
sequence_length
513
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18367447, ECO:0000269|PubMed:23976986}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000269|PubMed:23661805}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 102..122; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 185..205; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 222..242; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 257..277; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 286..306; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 316..336; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 346..366; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 411..431; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 439..459; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 484..504; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins