SLC22A12
Solute carrier family 22 member 12
Also known as: OAT4L, RST, S22AC_HUMAN, URAT1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96S37
- Gene
- SLC22A12
- Ensembl
- ENSG00000197891
- Chromosome
- 11
- Canonical length
- 553 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted membrane proteins, Transporters
OverviewNCBI Gene
The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Canonical amino-acid sequenceUniProt
553 residues, UniProt reviewed canonical sequence.
>Q96S37|SLC22A12
1 MAFSELLDLV GGLGRFQVLQ TMALMVSIMW LCTQSMLENF SAAVPSHRCW APLLDNSTAQ
61 ASILGSLSPE ALLAISIPPG PNQRPHQCRR FRQPQWQLLD PNATATSWSE ADTEPCVDGW
121 VYDRSIFTST IVAKWNLVCD SHALKPMAQS IYLAGILVGA AACGPASDRF GRRLVLTWSY
181 LQMAVMGTAA AFAPAFPVYC LFRFLLAFAV AGVMMNTGTL LMEWTAARAR PLVMTLNSLG
241 FSFGHGLTAA VAYGVRDWTL LQLVVSVPFF LCFLYSWWLA ESARWLLTTG RLDWGLQELW
301 RVAAINGKGA VQDTLTPEVL LSAMREELSM GQPPASLGTL LRMPGLRFRT CISTLCWFAF
361 GFTFFGLALD LQALGSNIFL LQMFIGVVDI PAKMGALLLL SHLGRRPTLA ASLLLAGLCI
421 LANTLVPHEM GALRSALAVL GLGGVGAAFT CITIYSSELF PTVLRMTAVG LGQMAARGGA
481 ILGPLVRLLG VHGPWLPLLV YGTVPVLSGL AALLLPETQS LPLPDTIQDV QNQAVKKATH
541 GTLGNSVLKS TQFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC22A12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 11
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 104 nTPM
Expression across tissuesHPA
Tissue
- kidney: 104 nTPM
- adipose tissue: 0.5 nTPM
- liver: 0.2 nTPM
- breast: 0.1 nTPM
- cerebral cortex: 0.1 nTPM
- colon: 0.1 nTPM
Single-cell type
- proximal tubule cells: 104 nCPM
- podocytes: 10 nCPM
- renal connecting tubule cells: 7.5 nCPM
- distal convoluted tubule cells: 6.1 nCPM
- renal collecting duct intercalated cells: 5.9 nCPM
- loop of henle epithelial cells: 4.2 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 1.1 nTPM
- cerebral cortex: 0.9 nTPM
- amygdala: 0.5 nTPM
- pons: 0.3 nTPM
- basal ganglia: 0.2 nTPM
- hippocampal formation: 0.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC22A12.
Disease | AllUniProt
Conditions SLC22A12 is implicated in, by any mechanism.
- Hypouricemia renal 1 (RHUC1) MIM:220150
Disease | GeneticClinVar
23 pathogenic / likely-pathogenic of 335 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Dalmatian hypouricemia
- SLC22A12-related disorder
- Familial renal hypouricemia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.3
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.37
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular homeostasis
- cellular response to insulin stimulus
- monoatomic ion transport
- organic anion transport
- renal urate salt excretion
- response to xenobiotic stimulus
- urate metabolic process
- urate transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC22A12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC22A12 as an antibody target. Whether an autoantibody or antibody against SLC22A12 could matter depends on whether native SLC22A12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC22A12 is annotated at the cell surface, where native SLC22A12 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC22A12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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