SLC25A13
entrez
10165
canonical
uniprot
Q9UJS0
canonical
ensembl
ENSG00000004864
resolver
ensp
ENSP00000265631
resolver
ensp
ENSP00000400101
resolver
ensp
ENSP00000781318
resolver
genesymbol
SLC25A13
resolver
genesymbol_syn
AGC2
resolver
hgnc
HGNC:10983
resolver
uniprot
O14566
resolver
uniprot
O14575
resolver
uniprot
Q546F9
resolver
uniprot
Q9NZW1
resolver
uniprot
Q9UNI7
resolver
uniprot_entry
S2513_HUMAN
resolver
uniprot_sec
O14566
resolver
uniprot_sec
O14575
resolver
uniprot_sec
Q546F9
resolver
uniprot_sec
Q9NZW1
resolver
uniprot_sec
Q9UNI7
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
MAAAKVALTKRADPAELRTIFLKYASIEKNGEFFMSPNDFVTRYLNIFGESQPNPKTVELLSGVVDQTKDGLISFQEFVAFESVLCAPDALFMVAFQLFDKAGKGEVTFEDVKQVFGQTTIHQHIPFNWDSEFVQLHFGKERKRHLTYAEFTQFLLEIQLEHAKQAFVQRDNARTGRVTAIDFRDIMVTIRPHVLTPFVEECLVAAAGGTTSHQVSFSYFNGFNSLLNNMELIRKIYSTLAGTRKDVEVTKEEFVLAAQKFGQVTPMEVDILFQLADLYEPRGRMTLADIERIAPLEEGTLPFNLAEAQRQKASGDSARPVLLQVAESAYRFGLGSVAGAVGATAVYPIDLVKTRMQNQRSTGSFVGELMYKNSFDCFKKVLRYEGFFGLYRGLLPQLLGVAPEKAIKLTVNDFVRDKFMHKDGSVPLAAEILAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALSVVRDLGFFGIYKGAKACFLRDIPFSAIYFPCYAHVKASFANEDGQVSPGSLLLAGAIAGMPAASLVTPADVIKTRLQVAARAGQTTYSGVIDCFRKILREEGPKALWKGAGARVFRSSPQFGVTLLTYELLQRWFYIDFGGVKPMGSEPVPKSRINLPAPNPDHVGGYKLAVATFAGIENKFGLYLPLFKPSVSTSKAIGGGP
uniprot
proteins
disease_involvement
DISEASE: Citrin deficiency, adolescent or adult onset (CDAA) [MIM:603471]: An autosomal recessive metabolic disorder characterized by elevated serum and urine citrulline levels, ammonia intoxication, and neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. {ECO:0000269|PubMed:10369257, ECO:0000269|PubMed:10610724}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Citrin deficiency, neonatal or infantile onset (CDNI) [MIM:605814]: An autosomal recessive metabolic disorder characterized by increased serum citrulline, poor growth, and neonatal intrahepatic cholestasis with suppression of the bile flow, hepatic fibrosis and variable liver dysfunction. Most patients show spontaneous improvement of symptoms by 1 year of age. However, some affected individuals may develop chronic or fatal liver disease. {ECO:0000269|PubMed:11793471}. 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:38937634, PubMed:38945283, PubMed:39419476). Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction (PubMed:38937634). Also mediates the uptake of L-cysteinesulfinate (3-sulfino-L-alanine) by mitochondria in exchange for 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 gamma-aminobutyric acid (GABA) (PubMed:38945283). {ECO:0000269|PubMed:11566871, ECO:0000269|PubMed:38937634, ECO:0000269|PubMed:38945283, ECO:0000269|PubMed:39419476}.
uniprot
proteins
mass_dalton
74176
uniprot
proteins
mutagenesis
MUTAGEN 25; /note="A->E: Reduces transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 39; /note="D->T: No effect on mitochondrial localization."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 66; /note="D->A: Does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with A-68, A-70 and A-77."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 68; /note="T->A: Does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with A-66, A-70 and A-77."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 70; /note="D->A: Does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with A-66, A-68 and A-77."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 74; /note="S->F: Slightly reduces transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 77; /note="E->A: Does not affect transporter activity, folding, dimeric state or mitochondrial localization; when associated with A-66, A-68 and A-70."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 85; /note="L->P: Increases transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 95; /note="A->D: Reduces transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 139; /note="G->R: Reduces transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 176; /note="G->V: Reduces transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 350; /note="D->N: Reduces transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 355; /note="R->G: Reduces transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 393; /note="G->S: Reduces transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 405; /note="K->N: Abolishes transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 453; /note="K->R: Slightly reduces transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 455; /note="R->L: Abolishes transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 489; /note="C->R: Abolishes transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 493; /note="D->G: Abolishes transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 500; /note="Y->D: Primarily cytoplasmic."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 531; /note="G->D: Reduces transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 546; /note="T->R: Abolishes transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 585; /note="R->H: Abolishes transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 588; /note="R->P: Reduces mitochondrial localization."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 588; /note="R->Q: Abolishes transporter activity."; /evidence="ECO:0000269|PubMed:39419476"; MUTAGEN 598; /note="L->R: Reduces transporter activity."; /evidence="ECO:0000269|PubMed:39419476
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
10369257
uniprot
proteins
pubmed
10610724
uniprot
proteins
pubmed
10642534
uniprot
proteins
pubmed
11566871
uniprot
proteins
pubmed
11793471
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25410934
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
38937634
uniprot
proteins
pubmed
38945283
uniprot
proteins
pubmed
39419476
uniprot
proteins
sequence_length
675
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:10642534, ECO:0000269|PubMed:11566871, ECO:0000269|PubMed:39419476}; Multi-pass membrane protein {ECO:0000269|PubMed:11566871}.
uniprot
proteins
transmembrane_region
TRANSMEM 332..349; /note="Helical; Name=1"; /evidence="ECO:0000250|UniProtKB:O75746"; TRANSMEM 393..412; /note="Helical; Name=2"; /evidence="ECO:0000250|UniProtKB:O75746"; TRANSMEM 436..449; /note="Helical; Name=3"; /evidence="ECO:0000250|UniProtKB:O75746"; TRANSMEM 485..504; /note="Helical; Name=4"; /evidence="ECO:0000250|UniProtKB:O75746"; TRANSMEM 524..541; /note="Helical; Name=5"; /evidence="ECO:0000250|UniProtKB:O75746"; TRANSMEM 581..600; /note="Helical; Name=6"; /evidence="ECO:0000250|UniProtKB:O75746
uniprot
proteins