SLC25A12
entrez
8604
canonical
uniprot
O75746
canonical
ensembl
ENSG00000115840
resolver
ensembl
ENSG00000292099
resolver
ensp
ENSP00000388658
resolver
genesymbol
SLC25A12
resolver
genesymbol_syn
AGC1
resolver
genesymbol_syn
ARALAR1
resolver
hgnc
HGNC:10982
resolver
uniprot
B3KR64
resolver
uniprot
Q96AM8
resolver
uniprot_entry
S2512_HUMAN
resolver
uniprot_sec
B3KR64
resolver
uniprot_sec
Q96AM8
resolver
activity_regulation
ACTIVITY REGULATION: Activated by calcium-binding in the mitochondrial intermembrane space (PubMed:11566871). Inhibited by pyridoxal 5'-phosphate, bathophenathroline, mercurials, diethyl pyrocarbonate and N-ethylmaleimide (PubMed:11566871). {ECO:0000269|PubMed:11566871}.
uniprot
proteins
amino_acid_sequence
MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRRDGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYELLQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKFKSPSVAVVQPKAAVAATQ
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 39 with leukodystrophy (DEE39) [MIM:612949]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive. {ECO:0000269|PubMed:19641205, ECO:0000269|PubMed:24515575}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:19641205, PubMed:24515575, PubMed:38945283). Also mediates the uptake of L-cysteinesulfinate (3-sulfino-L-alanine) by mitochondria in exchange of L-glutamate and proton (PubMed:11566871). Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton translocation (PubMed:11566871). Lacks transport activity towards L-glutamine or gamma-aminobutyric acid (GABA) (PubMed:38945283). {ECO:0000269|PubMed:11566871, ECO:0000269|PubMed:19641205, ECO:0000269|PubMed:24515575, ECO:0000269|PubMed:38945283}.
uniprot
proteins
mass_dalton
74762
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
10369257
uniprot
proteins
pubmed
10642534
uniprot
proteins
pubmed
11566871
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
19641205
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24515575
uniprot
proteins
pubmed
25410934
uniprot
proteins
pubmed
25489052
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
38945283
uniprot
proteins
pubmed
9722566
uniprot
proteins
sequence_length
678
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11566871, ECO:0000269|PubMed:19641205, ECO:0000269|PubMed:24515575, ECO:0000269|PubMed:9722566}; Multi-pass membrane protein {ECO:0000269|PubMed:11566871}.
uniprot
proteins
transmembrane_region
TRANSMEM 330..347; /note="Helical; Name=1"; /evidence="ECO:0000305|PubMed:9722566"; TRANSMEM 391..410; /note="Helical; Name=2"; /evidence="ECO:0000305|PubMed:9722566"; TRANSMEM 434..447; /note="Helical; Name=3"; /evidence="ECO:0000305|PubMed:9722566"; TRANSMEM 483..502; /note="Helical; Name=4"; /evidence="ECO:0000305|PubMed:9722566"; TRANSMEM 522..539; /note="Helical; Name=5"; /evidence="ECO:0000305|PubMed:9722566"; TRANSMEM 579..598; /note="Helical; Name=6"; /evidence="ECO:0000305|PubMed:9722566
uniprot
proteins