SLC22A12
entrez
116085
canonical
uniprot
Q96S37
canonical
ensembl
ENSG00000197891
resolver
ensp
ENSP00000336836
resolver
ensp
ENSP00000366795
resolver
ensp
ENSP00000366797
resolver
ensp
ENSP00000438437
resolver
genesymbol
SLC22A12
resolver
genesymbol_syn
OATL4
resolver
genesymbol_syn
URAT1
resolver
hgnc
HGNC:17989
resolver
uniprot
B3KP53
resolver
uniprot
B7WPG1
resolver
uniprot
G3XAN7
resolver
uniprot
Q19PF7
resolver
uniprot
Q19PF8
resolver
uniprot
Q19PF9
resolver
uniprot
Q19PG0
resolver
uniprot
Q6UXW3
resolver
uniprot
Q96DT2
resolver
uniprot_entry
B3KP53_HUMAN
resolver
uniprot_entry
S22AC_HUMAN
resolver
uniprot_sec
B7WPG1
resolver
uniprot_sec
G3XAN7
resolver
uniprot_sec
Q19PF7
resolver
uniprot_sec
Q19PF8
resolver
uniprot_sec
Q19PF9
resolver
uniprot_sec
Q19PG0
resolver
uniprot_sec
Q6UXW3
resolver
uniprot_sec
Q96DT2
resolver
amino_acid_sequence
MAFSELLDLVGGLGRFQVLQTMALMVSIMWLCTQSMLENFSAAVPSHRCWAPLLDNSTAQASILGSLSPEALLAISIPPGPNQRPHQCRRFRQPQWQLLDPNATATSWSEADTEPCVDGWVYDRSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGAAACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFPVYCLFRFLLAFAVAGVMMNTGTLLMEWTAARARPLVMTLNSLGFSFGHGLTAAVAYGVRDWTLLQLVVSVPFFLCFLYSWWLAESARWLLTTGRLDWGLQELWRVAAINGKGAVQDTLTPEVLLSAMREELSMGQPPASLGTLLRMPGLRFRTCISTLCWFAFGFTFFGLALDLQALGSNIFLLQMFIGVVDIPAKMGALLLLSHLGRRPTLAASLLLAGLCILANTLVPHEMGALRSALAVLGLGGVGAAFTCITIYSSELFPTVLRMTAVGLGQMAARGGAILGPLVRLLGVHGPWLPLLVYGTVPVLSGLAALLLPETQSLPLPDTIQDVQNQAVKKATHGTLGNSVLKSTQF
uniprot
proteins
disease_involvement
DISEASE: Hypouricemia renal 1 (RHUC1) [MIM:220150]: A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. {ECO:0000269|PubMed:12024214, ECO:0000269|PubMed:14694169, ECO:0000269|PubMed:15327384, ECO:0000269|PubMed:15634722, ECO:0000269|PubMed:15912381, ECO:0000269|PubMed:16837472, ECO:0000269|PubMed:22194875, ECO:0000269|PubMed:26418379}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Electroneutral antiporter that translocates urate across the apical membrane of proximal tubular cells in exchange for monovalent organic or inorganic anions (PubMed:12024214, PubMed:22194875, PubMed:35144162, PubMed:35462902). Involved in renal reabsorption of urate and helps maintaining blood levels of uric acid (PubMed:12024214, PubMed:22194875). Mediates urate uptake by an exchange with organic anions such as (S)-lactate and nicotinate, and inorganic anion Cl(-) (PubMed:12024214). Other inorganic anions such as Br(-), I(-) and NO3(-) may also act as counteranions that exchange for urate (PubMed:12024214). Also mediates orotate tubular uptake coupled with nicotinate efflux and to a lesser extent with lactate efflux, therefore displaying a potential role in orotate renal reabsorption (PubMed:21350910). Orotate transport is Cl(-)-dependent (PubMed:21350910). {ECO:0000269|PubMed:12024214, ECO:0000269|PubMed:21350910, ECO:0000269|PubMed:22194875, ECO:0000269|PubMed:35144162, ECO:0000269|PubMed:35462902}.
uniprot
proteins
mass_dalton
59630
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:35462902}.
uniprot
proteins
protein_family
Major facilitator (TC 2.A.1) superfamily
uniprot
proteins
protein_family
Organic cation transporter (TC 2.A.1.19) family
uniprot
proteins
pubmed
12024214
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14531806
uniprot
proteins
pubmed
14694169
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15304510
uniprot
proteins
pubmed
15327384
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15634722
uniprot
proteins
pubmed
15912381
uniprot
proteins
pubmed
16385546
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16837472
uniprot
proteins
pubmed
21350910
uniprot
proteins
pubmed
22194875
uniprot
proteins
pubmed
26418379
uniprot
proteins
pubmed
35144162
uniprot
proteins
pubmed
35462902
uniprot
proteins
sequence_length
553
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:12024214, ECO:0000269|PubMed:22194875, ECO:0000269|PubMed:35144162, ECO:0000269|PubMed:35462902}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 9..29; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 146..166; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 174..194; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 195..215; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 232..252; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 260..280; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 351..371; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 378..398; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 407..427; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 435..455; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 466..486; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 495..515; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins