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

    Gene ID: 116085, updated on 22-Aug-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
    NEW
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    Try the new Transcript table

    Genomic context

    See SLC22A12 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 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
    Familial renal 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 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 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)

    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_001276326.2NP_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 109.20210514

    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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