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SLC22A12 solute carrier family 22 member 12 [ Homo sapiens (human) ]

Gene ID: 116085, updated on 17-Sep-2024

Summary

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Official Symbol
SLC22A12provided by HGNC
Official Full Name
solute carrier family 22 member 12provided by HGNC
Primary source
HGNC:HGNC:17989
See related
Ensembl:ENSG00000197891 MIM:607096; AllianceGenome:HGNC:17989
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RST; UAT; OAT4L; URAT1; hURAT1
Summary
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]
Expression
Restricted expression toward kidney (RPKM 60.9) See more
Orthologs
all
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Genomic context

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Location:
11q13.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64591220..64602344)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64583895..64595327)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64358692..64369816)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902690 Neighboring gene MPRA-validated peak1297 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64307456-64307994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64325867-64326380 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64327331-64327499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64332286-64333255 Neighboring gene solute carrier family 22 member 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64338776-64339380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64350049-64350932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64350933-64351815 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64352037-64352222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64372269-64373070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387298-64387914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387915-64388530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4905 Neighboring gene neurexin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64404690-64405258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414407-64414908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414909-64415408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64415526-64416494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64419195-64419694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64421037-64421537 Neighboring gene NRXN2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64424149-64424650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64424651-64425150 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64426961-64428160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64455312-64456232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64480596-64481379 Neighboring gene Sharpr-MPRA regulatory region 4107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64492769-64493607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64506559-64507108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3486 Neighboring gene RAS guanyl releasing protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The impact of an URAT1 polymorphism on the losartan treatment of hypertension and hyperuricemia. Wu L, et al. J Clin Lab Anal, 2021 Oct. PMID 34498315, Free PMC Article
  2. Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene. Nakayama A, et al. Rheumatology (Oxford), 2022 Mar 2. PMID 34255816, Free PMC Article
  3. Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12. Toyoda Y, et al. Rheumatology (Oxford), 2021 Nov 3. PMID 33821957, Free PMC Article
  4. Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families. Kawamura Y, et al. Rheumatology (Oxford), 2020 Dec 1. PMID 33011794, Free PMC Article
  5. Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion. Sekiya M, et al. BMC Med Genet, 2020 May 6. PMID 32375679, Free PMC Article

See all (114) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Structural basis for the transport and substrate selection of human urate transporter 1.
    Title: Structural basis for the transport and substrate selection of human urate transporter 1.
  2. New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions.
    Title: New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions.
  3. Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).
    Title: Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).
  4. Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.
    Title: Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.
  5. The impact of an URAT1 polymorphism on the losartan treatment of hypertension and hyperuricemia.
    Title: The impact of an URAT1 polymorphism on the losartan treatment of hypertension and hyperuricemia.
  6. Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.
    Title: Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.
  7. Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults.
    Title: Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults.
  8. Renal Reabsorptive Transport of Uric Acid Precursor Xanthine by URAT1 and GLUT9.
    Title: Renal Reabsorptive Transport of Uric Acid Precursor Xanthine by URAT1 and GLUT9.
  9. 27-Hydroxycholesterol regulates human SLC22A12 gene expression through estrogen receptor action.
    Title: 27-Hydroxycholesterol regulates human SLC22A12 gene expression through estrogen receptor action.
  10. Refining genome-wide associated loci for serum uric acid in individuals with African ancestry.
    Title: Refining genome-wide associated loci for serum uric acid in individuals with African ancestry.
Submit: New GeneRIF Correction See all GeneRIFs (88)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Dalmatian hypouricemia
MedGen: C0473219 OMIM: 220150 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
EBI GWAS Catalog
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables PDZ domain binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables urate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables urate transmembrane transporter activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in cellular homeostasis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in organic anion transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in renal urate salt excretion IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in urate metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in urate transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in urate transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in brush border membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in brush border membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
solute carrier family 22 member 12
Names
organic anion transporter 4-like protein
renal-specific transporter
solute carrier family 22 (organic anion/cation transporter), member 12
solute carrier family 22 (organic anion/urate transporter), member 12
urate anion exchanger 1
urate anion transporter 1
urate transporter 1
urate:anion antiporter SLC22A12

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008110.1 RefSeqGene

    Range
    5411..16535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276326.2 → NP_001263255.1  solute carrier family 22 member 12 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AB050269, AK315061, AP001092, BC053348, DA631511
    Consensus CDS
    CCDS60835.1
    UniProtKB/TrEMBL
    B3KV05
    Related
    ENSP00000336836.7, ENST00000336464.7
    Conserved Domains (1) summary
    cd17374
    Location:109 → 482
    MFS_OAT; Organic anion transporters of the Major Facilitator Superfamily of transporters

  2. NM_001276327.2 → NP_001263256.1  solute carrier family 22 member 12 isoform d

    See identical proteins and their annotated locations for NP_001263256.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons, resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AB050269, AP001092, AY358183, BC053348, DA631511
    Consensus CDS
    CCDS60836.1
    UniProtKB/TrEMBL
    B3KV05
    Related
    ENSP00000366795.1, ENST00000377572.5

  3. NM_144585.4 → NP_653186.2  solute carrier family 22 member 12 isoform a

    See identical proteins and their annotated locations for NP_653186.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB050269, AP001092, BC053348, DA631511
    Consensus CDS
    CCDS8075.1
    UniProtKB/Swiss-Prot
    B7WPG1, G3XAN7, Q19PF7, Q19PF8, Q19PF9, Q19PG0, Q6UXW3, Q96DT2, Q96S37
    UniProtKB/TrEMBL
    B3KV05
    Related
    ENSP00000366797.1, ENST00000377574.6
    Conserved Domains (1) summary
    cl26863
    Location:11 → 526
    Sugar_tr; Sugar (and other) transporter

  4. NM_153378.3 → NP_700357.1  solute carrier family 22 member 12 isoform b

    See identical proteins and their annotated locations for NP_700357.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains alternate 5' exon structure, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AB050269, AK055737, AP001092, BC053348
    UniProtKB/TrEMBL
    B3KP53
    Related
    ENSP00000438437.1, ENST00000473690.5
    Conserved Domains (1) summary
    cd06174
    Location:125 → 295
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    64591220..64602344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718430.5 → XP_006718493.1  solute carrier family 22 member 12 isoform X1

    See identical proteins and their annotated locations for XP_006718493.1

    UniProtKB/TrEMBL
    B3KV05
    Conserved Domains (2) summary
    cd06174
    Location:122 → 541
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00898
    Location:11 → 551
    2A0119; cation transport protein

  2. XM_006718431.5 → XP_006718494.1  solute carrier family 22 member 12 isoform X2

    UniProtKB/TrEMBL
    B3KV05
    Conserved Domains (2) summary
    cd06174
    Location:87 → 506
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00898
    Location:1 → 516
    2A0119; cation transport protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    64583895..64595327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367605.1 → XP_054223580.1  solute carrier family 22 member 12 isoform X2

    UniProtKB/TrEMBL
    B3KV05

  2. XM_054367604.1 → XP_054223579.1  solute carrier family 22 member 12 isoform X1

    UniProtKB/TrEMBL
    B3KV05
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96S37.1 GenPept UniProtKB/Swiss-Prot:Q96S37

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