SLC25A1
entrez
6576
canonical
uniprot
P53007
canonical
ensembl
ENSG00000100075
resolver
ensp
ENSP00000215882
resolver
ensp
ENSP00000401480
resolver
enst
ENST00000215882
resolver
enst
ENST00000451283
resolver
genesymbol
SLC25A1
resolver
genesymbol_syn
SLC20A3
resolver
hgnc
HGNC:10979
resolver
uniprot
A1QAR1
resolver
uniprot
A8K8E8
resolver
uniprot
D3DX16
resolver
uniprot
D9HTE9
resolver
uniprot
Q9BSK6
resolver
uniprot_entry
A1QAR1_HUMAN
resolver
uniprot_entry
D3DX16_HUMAN
resolver
uniprot_entry
D9HTE9_HUMAN
resolver
uniprot_entry
TXTP_HUMAN
resolver
uniprot_sec
A8K8E8
resolver
uniprot_sec
Q9BSK6
resolver
amino_acid_sequence
MPAPRAPRALAAAAPASGKAKLTHPGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYRGIGDCVRQTVRSHGVLGLYRGLSSLLYGSIPKAAVRFGMFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPKYRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAASVFGNTPLDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTD
uniprot
proteins
disease_involvement
DISEASE: Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]: An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts. {ECO:0000269|PubMed:23393310, ECO:0000269|PubMed:23561848, ECO:0000269|PubMed:25614306, ECO:0000269|PubMed:27306203, ECO:0000269|PubMed:29031613, ECO:0000269|PubMed:29226520, ECO:0000269|PubMed:29238895}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myasthenic syndrome, congenital, 23, presynaptic (CMS23) [MIM:618197]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS23 inheritance is autosomal recessive. {ECO:0000269|PubMed:26870663, ECO:0000269|PubMed:29031613}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial electroneutral antiporter that exports citrate from the mitochondria into the cytosol in exchange for malate (PubMed:26870663, PubMed:29031613, PubMed:29238895, PubMed:39881208, PubMed:38937634). Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis-aconitate and to a lesser extent trans-aconitate, maleate and succinate (PubMed:29031613). 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). In the cytoplasm, citrate plays important roles in fatty acid and sterol synthesis, regulation of glycolysis, protein acetylation, and other physiopathological processes (PubMed:29031613, PubMed:29238895, PubMed:39881208). {ECO:0000269|PubMed:26870663, ECO:0000269|PubMed:29031613, ECO:0000269|PubMed:29238895, ECO:0000269|PubMed:38937634, ECO:0000269|PubMed:39881208}.
uniprot
proteins
mass_dalton
34013
uniprot
proteins
post_translational_modification
PTM: Possesses a short cleavable presequence, which, however, is found to be dispensable both for targeting to mitochondria and insertion into the inner membrane. However, the presequence is required to keep SLC25A1 in a soluble state and thus in an import-competent state. Mature SLC25A1 lacking the presequence is prone to aggregation. {ECO:0000250|UniProtKB:P32089}.
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23393310
uniprot
proteins
pubmed
23561848
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25614306
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26870663
uniprot
proteins
pubmed
27306203
uniprot
proteins
pubmed
29031613
uniprot
proteins
pubmed
29226520
uniprot
proteins
pubmed
29238895
uniprot
proteins
pubmed
38937634
uniprot
proteins
pubmed
39881208
uniprot
proteins
pubmed
8660975
uniprot
proteins
pubmed
8666394
uniprot
proteins
sequence_length
311
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q8JZU2}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 29..46; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 86..105; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 129..143; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 183..202; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 224..241; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 278..297; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins