SLC13A5
entrez
284111
canonical
uniprot
Q86YT5
canonical
ensembl
ENSG00000141485
resolver
ensp
ENSP00000293800
resolver
ensp
ENSP00000370464
resolver
ensp
ENSP00000406220
resolver
ensp
ENSP00000459372
resolver
ensp
ENSP00000780227
resolver
genesymbol
SLC13A5
resolver
genesymbol_syn
NACT
resolver
hgnc
HGNC:23089
resolver
uniprot
B3KXR0
resolver
uniprot
B7Z4P2
resolver
uniprot
B7ZLB4
resolver
uniprot
F8W7N2
resolver
uniprot
Q6ZMG1
resolver
uniprot_entry
S13A5_HUMAN
resolver
uniprot_sec
B3KXR0
resolver
uniprot_sec
B7Z4P2
resolver
uniprot_sec
B7ZLB4
resolver
uniprot_sec
F8W7N2
resolver
uniprot_sec
Q6ZMG1
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by (R)-2-(4-(tert-butyl)phenethyl)-2-hydroxysuccinic acid (also known as PF-06649298) (PubMed:33597751). Stimulated by Li(+) in the presence of Na(+), moreover changes stoichiometry from 4:1 to 2:1 Na(+):citrate (PubMed:12826022, PubMed:33597751, PubMed:39622972). {ECO:0000269|PubMed:12826022, ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972}.
uniprot
proteins
amino_acid_sequence
MASALSYVSKFKSFVILFVTPLLLLPLVILMPAKFVRCAYVIILMAIYWCTEVIPLAVTSLMPVLLFPLFQILDSRQVCVQYMKDTNMLFLGGLIVAVAVERWNLHKRIALRTLLWVGAKPARLMLGFMGVTALLSMWISNTATTAMMVPIVEAILQQMEATSAATEAGLELVDKGKAKELPGSQVIFEGPTLGQQEDQERKRLCKAMTLCICYAASIGGTATLTGTGPNVVLLGQMNELFPDSKDLVNFASWFAFAFPNMLVMLLFAWLWLQFVYMRFNFKKSWGCGLESKKNEKAALKVLQEEYRKLGPLSFAEINVLICFFLLVILWFSRDPGFMPGWLTVAWVEGETKYVSDATVAIFVATLLFIVPSQKPKFNFRSQTEEERKTPFYPPPLLDWKVTQEKVPWGIVLLLGGGFALAKGSEASGLSVWMGKQMEPLHAVPPAAITLILSLLVAVFTECTSNVATTTLFLPIFASMSRSIGLNPLYIMLPCTLSASFAFMLPVATPPNAIVFTYGHLKVADMVKTGVIMNIIGVFCVFLAVNTWGRAIFDLDHFPDWANVTHIET
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25) [MIM:615905]: An autosomal recessive disease characterized by subclinical seizures appearing in the first days of life, evolving to severe epileptic disease. Affected individuals have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis. Dental abnormalities, including delayed eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin enamel, and enamel chipping are observed in most patients. {ECO:0000269|PubMed:24995870, ECO:0000269|PubMed:26384929, ECO:0000269|PubMed:30054523}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: High-affinity sodium/citrate cotransporter that mediates the entry of citrate into cells, which is a critical participant of biochemical pathways (PubMed:12445824, PubMed:12826022, PubMed:26324167, PubMed:26384929, PubMed:30054523, PubMed:33597751, PubMed:39622972). May function in various metabolic processes in which citrate has a critical role such as energy production (Krebs cycle), fatty acid synthesis, cholesterol synthesis, glycolysis, and gluconeogenesis (PubMed:12826022). Transports citrate into the cell in a Na(+)-dependent manner, recognizing the trivalent form of citrate (physiological pH) rather than the divalent form (PubMed:12445824, PubMed:12826022, PubMed:26324167, PubMed:26384929, PubMed:30054523, PubMed:33597751, PubMed:39622972). Can recognize succinate as a substrate, but its affinity for succinate is several fold lower than for citrate (PubMed:26324167). The stoichiometry is probably 4 Na(+) for each carboxylate, irrespective of whether the translocated substrate is divalent or trivalent, rendering the process electrogenic (PubMed:12445824, PubMed:12826022, PubMed:39622972). Involved in the regulation of citrate levels in the brain (By similarity). {ECO:0000250|UniProtKB:Q67BT3, ECO:0000269|PubMed:12445824, ECO:0000269|PubMed:12826022, ECO:0000269|PubMed:26324167, ECO:0000269|PubMed:26384929, ECO:0000269|PubMed:30054523, ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972}.
uniprot
proteins
mass_dalton
63062
uniprot
proteins
mutagenesis
MUTAGEN 409; /note="G->Q: No effect on its function in citrate transport."; /evidence="ECO:0000269|PubMed:33597751"; MUTAGEN 410; /note="I->A,F: Significant loss of function in citrate transport."; /evidence="ECO:0000269|PubMed:33597751"; MUTAGEN 410; /note="I->V: No effect on its function in citrate transport."; /evidence="ECO:0000269|PubMed:33597751
uniprot
proteins
protein_family
NADC subfamily
uniprot
proteins
protein_family
SLC13A/DASS transporter (TC 2.A.47) family
uniprot
proteins
pubmed
12445824
uniprot
proteins
pubmed
12826022
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
24995870
uniprot
proteins
pubmed
26324167
uniprot
proteins
pubmed
26384929
uniprot
proteins
pubmed
30054523
uniprot
proteins
pubmed
33597751
uniprot
proteins
pubmed
39622972
uniprot
proteins
sequence_length
568
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26384929, ECO:0000269|PubMed:30054523, ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972}; Multi-pass membrane protein {ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972}.
uniprot
proteins
transmembrane_region
TRANSMEM 15..28; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972, ECO:0007744|PDB:7JSJ, ECO:0007744|PDB:7JSK, ECO:0007744|PDB:8UVB, ECO:0007744|PDB:8UVH"; TRANSMEM 34..49; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972, ECO:0007744|PDB:7JSJ, ECO:0007744|PDB:7JSK, ECO:0007744|PDB:8UVB, ECO:0007744|PDB:8UVH"; TRANSMEM 56..69; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972, ECO:0007744|PDB:7JSJ, ECO:0007744|PDB:7JSK, ECO:0007744|PDB:8UVB, ECO:0007744|PDB:8UVH"; TRANSMEM 75..117; /note="Discontinuously helical; Name=4"; /evidence="ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972, ECO:0007744|PDB:7JSJ, ECO:0007744|PDB:7JSK, ECO:0007744|PDB:8UVB, ECO:0007744|PDB:8UVH"; TRANSMEM 203..240; /note="Discontinuously helical; Name=5"; /evidence="ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972, ECO:0007744|PDB:7JSJ, ECO:0007744|PDB:7JSK, ECO:0007744|PDB:8UVB, ECO:0007744|PDB:8UVH"; TRANSMEM 250..276; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972, ECO:0007744|PDB:7JSJ, ECO:0007744|PDB:7JSK, ECO:0007744|PDB:8UVB, ECO:0007744|PDB:8UVH"; TRANSMEM 315..332; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972, ECO:0007744|PDB:7JSJ, ECO:0007744|PDB:7JSK, ECO:0007744|PDB:8UVB, ECO:0007744|PDB:8UVH"; TRANSMEM 356..368; /note="Helical; Name=8"; /evidence="ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972, ECO:0007744|PDB:7JSJ, ECO:0007744|PDB:7JSK, ECO:0007744|PDB:8UVB, ECO:0007744|PDB:8UVH"; TRANSMEM 399..435; /note="Discontinuously helical; Name=9"; /evidence="ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972, ECO:0007744|PDB:7JSJ, ECO:0007744|PDB:7JSK, ECO:0007744|PDB:8UVB, ECO:0007744|PDB:8UVH"; TRANSMEM 487..517; /note="Discontinuously helical; Name=10"; /evidence="ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972, ECO:0007744|PDB:7JSJ, ECO:0007744|PDB:7JSK, ECO:0007744|PDB:8UVB, ECO:0007744|PDB:8UVH"; TRANSMEM 523..551; /note="Helical; Name=11"; /evidence="ECO:0000269|PubMed:33597751, ECO:0000269|PubMed:39622972, ECO:0007744|PDB:7JSJ, ECO:0007744|PDB:7JSK, ECO:0007744|PDB:8UVB, ECO:0007744|PDB:8UVH
uniprot
proteins