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SLC17A4 solute carrier family 17 member 4 [ Homo sapiens (human) ]

Gene ID: 10050, updated on 11-Apr-2024

Summary

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Official Symbol
SLC17A4provided by HGNC
Official Full Name
solute carrier family 17 member 4provided by HGNC
Primary source
HGNC:HGNC:10932
See related
Ensembl:ENSG00000146039 MIM:604216; AllianceGenome:HGNC:10932
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KAIA2138
Summary
Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011]
Expression
Biased expression in small intestine (RPKM 10.3), duodenum (RPKM 9.0) and 5 other tissues See more
Orthologs
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Genomic context

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Location:
6p22.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (25754699..25781199)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (25620474..25646984)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (25754927..25781427)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 17 member 1 Neighboring gene H2B clustered histone 2, pseudogene Neighboring gene H2A clustered histone 2, pseudogene Neighboring gene uncharacterized LOC124901285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16996 Neighboring gene solute carrier family 17 member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:25882461-25882975 Neighboring gene H2A clustered histone 3, pseudogene

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
  • 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. A prognostic signature consisting of metabolism-related genes and SLC17A4 serves as a potential biomarker of immunotherapeutic prediction in prostate cancer. Li H, et al. Front Immunol, 2022. PMID 36325340, Free PMC Article
  2. Functional Characterization of the Novel and Specific Thyroid Hormone Transporter SLC17A4. Groeneweg S, et al. Thyroid, 2022 Mar. PMID 34937426
  3. Kinetic evidence that the Na-PO4 cotransporter is the molecular mechanism for Na/Li exchange in human red blood cells. Elmariah S, et al. Am J Physiol Cell Physiol, 2003 Aug. PMID 12672655
  4. Isolation and chromosomal mapping of a novel human gene showing homology to Na+/PO4 cotransporter. Shibui A, et al. J Hum Genet, 1999. PMID 10319585
  5. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. Teumer A, et al. Nat Commun, 2018 Oct 26. PMID 30367059, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A prognostic signature consisting of metabolism-related genes and SLC17A4 serves as a potential biomarker of immunotherapeutic prediction in prostate cancer.
    Title: A prognostic signature consisting of metabolism-related genes and SLC17A4 serves as a potential biomarker of immunotherapeutic prediction in prostate cancer.
  2. Functional Characterization of the Novel and Specific Thyroid Hormone Transporter SLC17A4.
    Title: Functional Characterization of the Novel and Specific Thyroid Hormone Transporter SLC17A4.
  3. Thyroid hormone transporter (SLC17A4) single nucleotide polymorphism is associated with replicated free thyroxine (FT4) susceptibility loci in genome wide association study. Genetic variant SLC17A4-rs9356988 is associated with the 3,3',5-triiodothyronine (T3)/T4 ratio.
    Title: Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.
  4. SLC17A4 is an intestinal organic anion exporter that acts in delta-psi and Chloride dependent manners
    Title: A Na+-phosphate cotransporter homologue (SLC17A4 protein) is an intestinal organic anion exporter.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
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)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of solute carrier family 17 (sodium phosphate), member 4 (SLC17A4; KAIA2138) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA2138, MGC129623

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables sodium:phosphate symporter activity TAS
Traceable Author Statement
more info
 PubMed 
enables thyroid hormone transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables thyroid hormone transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables urate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in monoatomic anion transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphate-containing compound metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in sodium-dependent phosphate transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sodium-dependent phosphate transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in thyroid hormone transport IEA
Inferred from Electronic Annotation
more info
  
involved_in urate transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in brush border membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
probable small intestine urate exporter
Names
Na/PO4 cotransporter
putative small intestine sodium-dependent phosphate transport protein
solute carrier family 17 (sodium phosphate), member 4

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.

mRNA and Protein(s)

  1. NM_001286121.1 → NP_001273050.1  probable small intestine urate exporter isoform b

    See identical proteins and their annotated locations for NP_001273050.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR and initiaties translation at 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)
    AK024903, AL391194, BC109208
    Consensus CDS
    CCDS75411.1
    UniProtKB/Swiss-Prot
    Q9Y2C5
    Related
    ENSP00000391345.3, ENST00000439485.6
    Conserved Domains (1) summary
    cl27298
    Location:1 → 437
    UhpC; Sugar phosphate permease [Carbohydrate transport and metabolism]

  2. NM_005495.3 → NP_005486.1  probable small intestine urate exporter isoform a

    See identical proteins and their annotated locations for NP_005486.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).
    Source sequence(s)
    AB020527, AL391194
    Consensus CDS
    CCDS4564.1
    UniProtKB/Swiss-Prot
    B4DDV9, E7EPE8, E7EU17, Q32MB7, Q32MB8, Q9Y2C5
    Related
    ENSP00000367137.4, ENST00000377905.9
    Conserved Domains (1) summary
    cl27298
    Location:30 → 491
    UhpC; Sugar phosphate permease [Carbohydrate transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    25754699..25781199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418034.1 → XP_047273990.1  probable small intestine urate exporter isoform X1

    UniProtKB/Swiss-Prot
    B4DDV9, E7EPE8, E7EU17, Q32MB7, Q32MB8, Q9Y2C5

  2. XM_024446296.2 → XP_024302064.1  probable small intestine urate exporter isoform X1

    UniProtKB/Swiss-Prot
    B4DDV9, E7EPE8, E7EU17, Q32MB7, Q32MB8, Q9Y2C5
    Conserved Domains (1) summary
    cl27298
    Location:30 → 491
    UhpC; Sugar phosphate permease [Carbohydrate transport and metabolism]

  3. XM_024446295.2 → XP_024302063.1  probable small intestine urate exporter isoform X1

    UniProtKB/Swiss-Prot
    B4DDV9, E7EPE8, E7EU17, Q32MB7, Q32MB8, Q9Y2C5
    Conserved Domains (1) summary
    cl27298
    Location:30 → 491
    UhpC; Sugar phosphate permease [Carbohydrate transport and metabolism]

  4. XM_011514219.3 → XP_011512521.1  probable small intestine urate exporter isoform X9

    UniProtKB/Swiss-Prot
    Q9Y2C5
    Conserved Domains (1) summary
    cd06174
    Location:88 → 250
    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 ...

  5. XM_024446294.2 → XP_024302062.1  probable small intestine urate exporter isoform X1

    UniProtKB/Swiss-Prot
    B4DDV9, E7EPE8, E7EU17, Q32MB7, Q32MB8, Q9Y2C5
    Conserved Domains (1) summary
    cl27298
    Location:30 → 491
    UhpC; Sugar phosphate permease [Carbohydrate transport and metabolism]

  6. XM_047418033.1 → XP_047273989.1  probable small intestine urate exporter isoform X1

    UniProtKB/Swiss-Prot
    B4DDV9, E7EPE8, E7EU17, Q32MB7, Q32MB8, Q9Y2C5

  7. XM_047418037.1 → XP_047273993.1  probable small intestine urate exporter isoform X5

  8. XM_047418035.1 → XP_047273991.1  probable small intestine urate exporter isoform X3

  9. XM_047418039.1 → XP_047273995.1  probable small intestine urate exporter isoform X7

  10. XM_047418040.1 → XP_047273996.1  probable small intestine urate exporter isoform X9

  11. XM_047418036.1 → XP_047273992.1  probable small intestine urate exporter isoform X4

  12. XM_047418041.1 → XP_047273997.1  probable small intestine urate exporter isoform X10

  13. XM_047418038.1 → XP_047273994.1  probable small intestine urate exporter isoform X6

  14. XM_011514211.2 → XP_011512513.1  probable small intestine urate exporter isoform X2

    See identical proteins and their annotated locations for XP_011512513.1

    UniProtKB/Swiss-Prot
    Q9Y2C5
    Conserved Domains (1) summary
    cl27298
    Location:1 → 437
    UhpC; Sugar phosphate permease [Carbohydrate transport and metabolism]

  15. XM_011514218.3 → XP_011512520.1  probable small intestine urate exporter isoform X8

    Conserved Domains (1) summary
    cd06174
    Location:2 → 272
    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 ...

RNA

  1. XR_007059193.1 RNA Sequence

  2. XR_007059192.1 RNA Sequence

  3. XR_007059194.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    25620474..25646984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353976.1 → XP_054209951.1  probable small intestine urate exporter isoform X1

    UniProtKB/Swiss-Prot
    B4DDV9, E7EPE8, E7EU17, Q32MB7, Q32MB8, Q9Y2C5

  2. XM_054353979.1 → XP_054209954.1  probable small intestine urate exporter isoform X1

    UniProtKB/Swiss-Prot
    B4DDV9, E7EPE8, E7EU17, Q32MB7, Q32MB8, Q9Y2C5

  3. XM_054353978.1 → XP_054209953.1  probable small intestine urate exporter isoform X1

    UniProtKB/Swiss-Prot
    B4DDV9, E7EPE8, E7EU17, Q32MB7, Q32MB8, Q9Y2C5

  4. XM_054353977.1 → XP_054209952.1  probable small intestine urate exporter isoform X1

    UniProtKB/Swiss-Prot
    B4DDV9, E7EPE8, E7EU17, Q32MB7, Q32MB8, Q9Y2C5

  5. XM_054353984.1 → XP_054209959.1  probable small intestine urate exporter isoform X5

  6. XM_054353982.1 → XP_054209957.1  probable small intestine urate exporter isoform X3

  7. XM_054353986.1 → XP_054209961.1  probable small intestine urate exporter isoform X7

  8. XM_054353988.1 → XP_054209963.1  probable small intestine urate exporter isoform X9

  9. XM_054353981.1 → XP_054209956.1  probable small intestine urate exporter isoform X11

  10. XM_054353983.1 → XP_054209958.1  probable small intestine urate exporter isoform X4

  11. XM_054353989.1 → XP_054209964.1  probable small intestine urate exporter isoform X10

  12. XM_054353985.1 → XP_054209960.1  probable small intestine urate exporter isoform X6

  13. XM_054353980.1 → XP_054209955.1  probable small intestine urate exporter isoform X2

  14. XM_054353987.1 → XP_054209962.1  probable small intestine urate exporter isoform X8

RNA

  1. XR_008487231.1 RNA Sequence

  2. XR_008487230.1 RNA Sequence

  3. XR_008487232.1 RNA Sequence

  4. XR_008487233.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2C5.1 GenPept UniProtKB/Swiss-Prot:Q9Y2C5

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