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

    Gene ID: 10050, updated on 2-Nov-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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    See SLC17A4 in Genome Data Viewer
    Location:
    6p22.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (25754699..25781199)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (25620474..25646984)
    RS_2024_09 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 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_2024_08

    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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