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

Gene ID: 116085, updated on 25-Nov-2021

Summary

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
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; OAT4L; URAT1
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
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Genomic context

See SLC22A12 in Genome Data Viewer
Location:
11q13.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (64591219..64603250)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64358692..64369816)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr11.3159 Neighboring gene solute carrier family 22 member 11 Neighboring gene neurexin 2 Neighboring gene NRXN2 antisense RNA 1 Neighboring gene RAS guanyl releasing protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dalmatian hypouricemia
MedGen: C0473219 OMIM: 220150 GeneReviews: Not available
Compare labs
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available
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.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
GeneReviews: Not available
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 organic anion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 salt excretion IEA
Inferred from Electronic Annotation
more info
 
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 integral component of 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

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 transporter 1

NCBI Reference Sequences (RefSeq)

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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_001276326.2NP_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/Swiss-Prot
    Q96S37
    Related
    ENSP00000336836.7, ENST00000336464.7
    Conserved Domains (2) summary
    cd06174
    Location:122482
    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:11492
    2A0119; cation transport protein
  2. NM_001276327.2NP_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/Swiss-Prot
    Q96S37
    Related
    ENSP00000366795.1, ENST00000377572.5
    Conserved Domains (2) summary
    cd06174
    Location:238408
    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:11418
    2A0119; cation transport protein
  3. NM_144585.4NP_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
    Q96S37
    Related
    ENSP00000366797.1, ENST00000377574.6
    Conserved Domains (1) summary
    cl26863
    Location:11526
    Sugar_tr; Sugar (and other) transporter
  4. NM_153378.3NP_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/Swiss-Prot
    Q96S37
    UniProtKB/TrEMBL
    B3KP53
    Related
    ENSP00000438437.1, ENST00000473690.5
    Conserved Domains (1) summary
    cd06174
    Location:125295
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    64591219..64603250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718430.4XP_006718493.1  solute carrier family 22 member 12 isoform X1

    See identical proteins and their annotated locations for XP_006718493.1

    Conserved Domains (2) summary
    cd06174
    Location:122541
    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:11551
    2A0119; cation transport protein
  2. XM_006718431.4XP_006718494.1  solute carrier family 22 member 12 isoform X2

    Conserved Domains (2) summary
    cd06174
    Location:87506
    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:1516
    2A0119; cation transport protein
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