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SLC17A3 solute carrier family 17 member 3 [ Homo sapiens (human) ]

Gene ID: 10786, updated on 12-May-2016
Official Symbol
SLC17A3provided by HGNC
Official Full Name
solute carrier family 17 member 3provided by HGNC
Primary source
HGNC:HGNC:10931
See related
Ensembl:ENSG00000124564 HPRD:10233; MIM:611034; Vega:OTTHUMG00000014412
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
NPT4; GOUT4; UAQTL4
Summary
The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]
Orthologs
Location:
6p21.3
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (25845100..25874243, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (25845328..25874471, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 17 member 4 Neighboring gene solute carrier family 17 member 1 Neighboring gene histone cluster 1, H2a, pseudogene 2 Neighboring gene solute carrier family 17 member 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Uric acid concentration, serum, quantitative trait locus 4
MedGen: C2675207 OMIM: 612671 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.
NHGRI GWA Catalog
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
NHGRI GWA Catalog
Common variants on chromosome 6p22.1 are associated with schizophrenia.
NHGRI GWA Catalog
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
NHGRI GWA Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
drug transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
efflux transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
organic anion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
sodium-dependent phosphate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
sodium:phosphate symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
sodium:phosphate symporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sodium:phosphate symporter activity TAS
Traceable Author Statement
more info
 
toxin transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
urate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
urate transmembrane transporter activity TAS
Traceable Author Statement
more info
 
voltage-gated anion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
drug transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
drug transport IDA
Inferred from Direct Assay
more info
PubMed 
glucose-6-phosphate transport TAS
Traceable Author Statement
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
organic acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
organic anion transport IDA
Inferred from Direct Assay
more info
PubMed 
phosphate ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
phosphate ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
sodium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
sodium-dependent phosphate transport IEA
Inferred from Electronic Annotation
more info
 
toxin transport IEA
Inferred from Electronic Annotation
more info
 
urate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
urate transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
sodium-dependent phosphate transport protein 4
Names
Na(+)/PI cotransporter 4
sodium/phosphate cotransporter 4
solute carrier family 17 (organic anion transporter), member 3
solute carrier family 17 (sodium phosphate), member 3

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_032922.1 RefSeqGene

    Range
    5001..34144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098486.1NP_001091956.1  sodium-dependent phosphate transport protein 4 isoform a

    See identical proteins and their annotated locations for NP_001091956.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL138726, BX107915, CB163247, DC340735, DC361549, Z83953
    Consensus CDS
    CCDS47385.1
    UniProtKB/Swiss-Prot
    O00476
    Related
    ENSP00000380250, OTTHUMP00000016127, ENST00000397060, OTTHUMT00000040071
    Conserved Domains (2) summary
    cd06174
    Location:98481
    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 ...
    TIGR00894
    Location:23497
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter
  2. NM_006632.3NP_006623.2  sodium-dependent phosphate transport protein 4 isoform b

    See identical proteins and their annotated locations for NP_006623.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AL138726, BC017952, DC361549
    Consensus CDS
    CCDS4566.2
    UniProtKB/Swiss-Prot
    O00476
    UniProtKB/TrEMBL
    A0A024QZX7
    Related
    ENSP00000355307, OTTHUMP00000016128, ENST00000361703, OTTHUMT00000040072
    Conserved Domains (2) summary
    cd06174
    Location:102403
    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 ...
    TIGR00894
    Location:23419
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    25845100..25874243 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    25847566..25876701 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)