SLC25A24
entrez
29957
canonical
uniprot
Q6NUK1
canonical
ensembl
ENSG00000085491
resolver
ensembl
ENSG00000284468
resolver
ensp
ENSP00000359058
resolver
ensp
ENSP00000457733
resolver
genesymbol
SLC25A24
resolver
genesymbol_syn
APC1
resolver
genesymbol_syn
MCSC1
resolver
genesymbol_syn
SCAMC1
resolver
hgnc
HGNC:20662
resolver
uniprot
B7ZAI9
resolver
uniprot
Q5T331
resolver
uniprot
Q5T485
resolver
uniprot
Q6PJJ9
resolver
uniprot
Q705K4
resolver
uniprot
Q9P129
resolver
uniprot_entry
SCMC1_HUMAN
resolver
uniprot_sec
B7ZAI9
resolver
uniprot_sec
Q5T331
resolver
uniprot_sec
Q5T485
resolver
uniprot_sec
Q6PJJ9
resolver
uniprot_sec
Q705K4
resolver
uniprot_sec
Q9P129
resolver
activity_regulation
ACTIVITY REGULATION: Activated by an increase in cytosolic calcium levels that induces a conformational change of the N-terminal regulatory domain, uncapping the channel and allowing transport (PubMed:22015608, PubMed:24332718, PubMed:26164100). When calcium levels are high, the amphipathic alpha-helix of the linker region is bound to a cleft in the N-terminal regulatory domain, allowing substrate transport by the carrier domain (PubMed:28350015). When calcium levels drop, the cleft closes and the amphipathic alpha-helix is released to bind to the carrier domain, inhibiting substrate transport (PubMed:28350015). Inhibited by bathophenanthroline, mersalyl, p-hydroxymercuribenzoate, bromcresol purple and tannic acid (PubMed:15123600). {ECO:0000269|PubMed:15123600, ECO:0000269|PubMed:22015608, ECO:0000269|PubMed:24332718, ECO:0000269|PubMed:26164100, ECO:0000269|PubMed:28350015}.
uniprot
proteins
amino_acid_sequence
MLRWLRDFVLPTAACQDAEQPTRYETLFQALDRNGDGVVDIGELQEGLRNLGIPLGQDAEEKIFTTGDVNKDGKLDFEEFMKYLKDHEKKMKLAFKSLDKNNDGKIEASEIVQSLQTLGLTISEQQAELILQSIDVDGTMTVDWNEWRDYFLFNPVTDIEEIIRFWKHSTGIDIGDSLTIPDEFTEDEKKSGQWWRQLLAGGIAGAVSRTSTAPLDRLKIMMQVHGSKSDKMNIFGGFRQMVKEGGIRSLWRGNGTNVIKIAPETAVKFWAYEQYKKLLTEEGQKIGTFERFISGSMAGATAQTFIYPMEVMKTRLAVGKTGQYSGIYDCAKKILKHEGLGAFYKGYVPNLLGIIPYAGIDLAVYELLKSYWLDNFAKDSVNPGVMVLLGCGALSSTCGQLASYPLALVRTRMQAQAMLEGSPQLNMVGLFRRIISKEGIPGLYRGITPNFMKVLPAVGISYVVYENMKQTLGVTQK
uniprot
proteins
disease_involvement
DISEASE: Fontaine progeroid syndrome (FPS) [MIM:612289]: An autosomal dominant progeroid disorder characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, wrinkled skin, an aged appearance since birth, an abnormal scalp hair pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis. Early death is observed in some patients. {ECO:0000269|PubMed:29100093}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Electroneutral antiporter that mediates the transport of adenyl nucleotides through the inner mitochondrial membrane. Originally identified as an ATP-magnesium/inorganic phosphate antiporter, it also acts as a broad specificity adenyl nucleotide antiporter. By regulating the mitochondrial matrix adenyl nucleotide pool, could adapt to changing cellular energetic demands and indirectly regulate adenyl nucleotide-dependent metabolic pathways (PubMed:15123600, PubMed:22015608). In vitro, a low activity is also observed with guanyl and pyrimidine nucleotides (PubMed:15123600). May play a role in protecting cells against oxidative stress-induced cell death, by buffering calcium levels in the mitochondrial matrix through the formation of calcium-phosphate precipitates (PubMed:22015608, PubMed:29100093). {ECO:0000269|PubMed:15123600, ECO:0000269|PubMed:22015608, ECO:0000269|PubMed:28350015, ECO:0000269|PubMed:29100093}.
uniprot
proteins
mass_dalton
53354
uniprot
proteins
mutagenesis
MUTAGEN 88; /note="E->A: Reduces ATP uptake in the presence of calcium."; /evidence="ECO:0000269|PubMed:28350015"; MUTAGEN 158; /note="D->A: No significant change in ATP uptake in the presence or absence of calcium."; /evidence="ECO:0000269|PubMed:28350015"; MUTAGEN 159; /note="I->A: Reduces ATP uptake in the presence of calcium."; /evidence="ECO:0000269|PubMed:28350015"; MUTAGEN 161; /note="E->A: No significant change in ATP uptake in the presence or absence of calcium."; /evidence="ECO:0000269|PubMed:28350015"; MUTAGEN 277; /note="K->A: Increases ATP uptake in the presence of calcium."; /evidence="ECO:0000269|PubMed:28350015
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15054102
uniprot
proteins
pubmed
15123600
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22015608
uniprot
proteins
pubmed
24332718
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26164100
uniprot
proteins
pubmed
28350015
uniprot
proteins
pubmed
29100093
uniprot
proteins
sequence_length
477
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:15054102, ECO:0000305|PubMed:15123600, ECO:0000305|PubMed:22015608}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 198..215; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 253..272; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 296..309; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 346..365; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 389..406; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 446..465; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins