Aliases for SLC17A1 Gene

Aliases for SLC17A1 Gene

  • Solute Carrier Family 17 Member 1 2 3 4 5
  • Solute Carrier Family 17 (Organic Anion Transporter), Member 1 2 3
  • Solute Carrier Family 17 (Sodium Phosphate), Member 1 2 3
  • Renal Sodium-Dependent Phosphate Transport Protein 1 3 4
  • Renal Na(+)-Dependent Phosphate Cotransporter 1 3 4
  • Sodium-Dependent Phosphate Transport Protein 1 3 4
  • Renal Sodium-Phosphate Transport Protein 1 3 4
  • Sodium/Phosphate Cotransporter 1 3 4
  • Na(+)/PI Cotransporter 1 3 4
  • Na/Pi-4 3 4
  • NPT1 3 4
  • Solute Carrier Family 17 (Vesicular Glutamate Transporter), Member 1 3
  • Sodium/Phosphate Type I Cotransporter 3
  • Sodium Phosphate Transporter 3
  • NAPI-1 3
  • NPT-1 3

External Ids for SLC17A1 Gene

Previous HGNC Symbols for SLC17A1 Gene

  • NPT1

Previous GeneCards Identifiers for SLC17A1 Gene

  • GC06M025840
  • GC06M025891
  • GC06M025785
  • GC06M025808
  • GC06M025813
  • GC06M025786
  • GC06M025795
  • GC06M025796
  • GC06M025803

Summaries for SLC17A1 Gene

GeneCards Summary for SLC17A1 Gene

SLC17A1 (Solute Carrier Family 17 Member 1) is a Protein Coding gene. Diseases associated with SLC17A1 include Gout and Hyperuricemia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Uricosurics Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include symporter activity and phosphate ion transmembrane transporter activity. An important paralog of this gene is SLC17A2.

UniProtKB/Swiss-Prot Summary for SLC17A1 Gene

  • Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Plays a role in urate transport in the kidney (PubMed:27906618).

Gene Wiki entry for SLC17A1 Gene

Additional gene information for SLC17A1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC17A1 Gene

Genomics for SLC17A1 Gene

GeneHancer (GH) Regulatory Elements for SLC17A1 Gene

Promoters and enhancers for SLC17A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J025830 Promoter 0.6 EPDnew 750.6 +1.5 1467 0.1 MAFK YY1 RAD21 TAF1 SLC17A1 lnc-SLC17A3-1 RF00017-5374
GH06J025865 Enhancer 0.9 Ensembl ENCODE 16.5 -34.0 -34031 1.4 SMARCE1 ELF1 HLF TEAD4 BACH1 SMARCA4 TRIM24 ATF1 HDAC1 LEF1 ENSG00000272462 BTN3A2 SLC17A1 SLC17A2 SLC17A4 SLC17A3 piR-46664 RF00017-5374
GH06J025881 Promoter/Enhancer 0.9 Ensembl ENCODE 10 -50.2 -50231 1 RXRA SP1 CTBP1 USF1 RAD21 CTCF YY1 TAF1 HNF4A SLC17A3 ENSG00000242387 H2AC3P SLC17A1 ENSG00000272462 RF00017-5374
GH06J025890 Enhancer 0.8 Ensembl 10 -58.6 -58571 0.5 CTCF RBPJ MIXL1 RAD21 ELF3 CEBPG ZSCAN21 KAT8 CEBPA RXRA ENSG00000272462 SLC17A4 SLC17A1 ENSG00000216718 BTN3A2 ENSG00000277410 NONHSAG043220.2 RF00017-5374
GH06J025720 Enhancer 0.8 Ensembl 9.9 +111.4 111367 0.6 CTCF MIXL1 HLF RAD21 ELF3 CEBPG KAT8 CEBPA ARID2 RXRA ENSG00000272462 SLC17A4 SLC17A1 piR-52370 piR-57135-034 RF00017-5374
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC17A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC17A1 gene promoter:
  • C/EBPalpha
  • CUTL1
  • GATA-1
  • GATA-2
  • GATA-3
  • POU2F1
  • POU2F1a
  • RFX1
  • RORalpha1

Genomic Locations for SLC17A1 Gene

Genomic Locations for SLC17A1 Gene
chr6:25,781,454-25,832,070
(GRCh38/hg38)
Size:
50,617 bases
Orientation:
Minus strand
chr6:25,783,125-25,832,287
(GRCh37/hg19)
Size:
49,163 bases
Orientation:
Minus strand

Genomic View for SLC17A1 Gene

Genes around SLC17A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC17A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC17A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC17A1 Gene

Proteins for SLC17A1 Gene

  • Protein details for SLC17A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14916-NPT1_HUMAN
    Recommended name:
    Sodium-dependent phosphate transport protein 1
    Protein Accession:
    Q14916
    Secondary Accessions:
    • A8K418
    • O60761
    • Q13783
    • Q3MIP5
    • Q5MJP8
    • Q5TB83
    • Q96KL8

    Protein attributes for SLC17A1 Gene

    Size:
    467 amino acids
    Molecular mass:
    51132 Da
    Quaternary structure:
    • Interacts with PDZK1.
    SequenceCaution:
    • Sequence=BAA05888.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC17A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC17A1 Gene

Post-translational modifications for SLC17A1 Gene

  • Glycosylation at Asn41, Asn49, and Asn58
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC17A1 Gene

Domains & Families for SLC17A1 Gene

Gene Families for SLC17A1 Gene

Protein Domains for SLC17A1 Gene

Suggested Antigen Peptide Sequences for SLC17A1 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 17 member 1 (NPT1_HUMAN)
  • Sodium/phosphate type I cotransporter (Q96KL5_HUMAN)
  • Sodium/phosphate type I cotransporter (Q96KL6_HUMAN)
  • Sodium/phosphate type I cotransporter (Q96KL7_HUMAN)
  • Sodium/phosphate type I cotransporter (Q96PF5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14916

UniProtKB/Swiss-Prot:

NPT1_HUMAN :
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
Family:
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
genes like me logo Genes that share domains with SLC17A1: view

Function for SLC17A1 Gene

Molecular function for SLC17A1 Gene

UniProtKB/Swiss-Prot Function:
Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Plays a role in urate transport in the kidney (PubMed:27906618).
GENATLAS Biochemistry:
solute carrier family 17 (sodium/phosphate cotransport),member 1,expressed in kidney

Phenotypes From GWAS Catalog for SLC17A1 Gene

Gene Ontology (GO) - Molecular Function for SLC17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015114 phosphate ion transmembrane transporter activity IEA --
GO:0015136 sialic acid transmembrane transporter activity IBA 21873635
GO:0015293 symporter activity IEA --
GO:0015321 sodium-dependent phosphate transmembrane transporter activity TAS --
genes like me logo Genes that share ontologies with SLC17A1: view
genes like me logo Genes that share phenotypes with SLC17A1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC17A1

CRISPR Products

miRNA for SLC17A1 Gene

miRTarBase miRNAs that target SLC17A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC17A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC17A1 Gene

Localization for SLC17A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC17A1 Gene

Apical cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC17A1 gene
Compartment Confidence
plasma membrane 5
lysosome 3
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane TAS 8288239
GO:0016021 integral component of membrane IBA 21873635
genes like me logo Genes that share ontologies with SLC17A1: view

Pathways & Interactions for SLC17A1 Gene

genes like me logo Genes that share pathways with SLC17A1: view

Gene Ontology (GO) - Biological Process for SLC17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006814 sodium ion transport IEA --
GO:0006817 phosphate ion transport TAS 8867793
GO:0015739 sialic acid transport IBA 21873635
GO:0015747 urate transport IMP 27906618
genes like me logo Genes that share ontologies with SLC17A1: view

No data available for SIGNOR curated interactions for SLC17A1 Gene

Drugs & Compounds for SLC17A1 Gene

(2) Additional Compounds for SLC17A1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC17A1: view

Transcripts for SLC17A1 Gene

mRNA/cDNA for SLC17A1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC17A1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC17A1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1:
SP2: -
SP3:

Relevant External Links for SLC17A1 Gene

GeneLoc Exon Structure for
SLC17A1
ECgene alternative splicing isoforms for
SLC17A1

Expression for SLC17A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC17A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC17A1 Gene

This gene is overexpressed in Kidney - Cortex (x40.8) and Liver (x10.6).

Protein differential expression in normal tissues from HIPED for SLC17A1 Gene

This gene is overexpressed in Urine (37.0) and Kidney (32.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC17A1 Gene



Protein tissue co-expression partners for SLC17A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC17A1 Gene:

SLC17A1

SOURCE GeneReport for Unigene cluster for SLC17A1 Gene:

Hs.205816

mRNA Expression by UniProt/SwissProt for SLC17A1 Gene:

Q14916-NPT1_HUMAN
Tissue specificity: Expressed in kidney cortex, liver and brain but not in other tissues.

Evidence on tissue expression from TISSUES for SLC17A1 Gene

  • Kidney(4.6)
  • Liver(4.4)
genes like me logo Genes that share expression patterns with SLC17A1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC17A1 Gene

Orthologs for SLC17A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC17A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC17A1 33 32
  • 99.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC17A1 33 32
  • 79.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC17A1 33 32
  • 78.37 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc17a1 32
  • 75.91 (n)
mouse
(Mus musculus)
Mammalia Slc17a1 17 33 32
  • 74.98 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 47 (a)
ManyToMany
-- 33
  • 39 (a)
ManyToMany
-- 33
  • 35 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 39 (a)
ManyToMany
-- 33
  • 38 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii CU929219.1 33
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T09B9.2 34
  • 25 (a)
F21F8.11 34
  • 24 (a)
Species where no ortholog for SLC17A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC17A1 Gene

ENSEMBL:
Gene Tree for SLC17A1 (if available)
TreeFam:
Gene Tree for SLC17A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC17A1: view image

Paralogs for SLC17A1 Gene

(7) SIMAP similar genes for SLC17A1 Gene using alignment to 6 proteins:

  • NPT1_HUMAN
  • E9PGW3_HUMAN
  • Q96KL5_HUMAN
  • Q96KL6_HUMAN
  • Q96KL7_HUMAN
  • Q96PF5_HUMAN
genes like me logo Genes that share paralogs with SLC17A1: view

Variants for SLC17A1 Gene

Sequence variations from dbSNP and Humsavar for SLC17A1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000016275 -- 25,808,837(-) G/A intron_variant
rs1000128292 -- 25,822,768(-) A/G intron_variant
rs1000140139 -- 25,777,073(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000172368 -- 25,732,902(-) A/C genic_downstream_transcript_variant, intron_variant
rs1000195746 -- 25,829,951(-) A/G intron_variant

Variation tolerance for SLC17A1 Gene

Residual Variation Intolerance Score: 76.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.07; 60.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC17A1 Gene

Human Gene Mutation Database (HGMD)
SLC17A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC17A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC17A1 Gene

Disorders for SLC17A1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC17A1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
gout
  • articular gout
hyperuricemia
  • blood urate raized
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC17A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC17A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC17A1 Gene

Publications for SLC17A1 Gene

  1. Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23. (PMID: 8288239) Chong SS … Hughes MR (Genomics 1993) 2 3 4 23 56
  2. Cloning and functional expression of a Na(+)-dependent phosphate co-transporter from human kidney: cDNA cloning and functional expression. (PMID: 7826357) Miyamoto K … Takeda E (The Biochemical journal 1995) 3 4 23 56
  3. Expression of a human NPT1/SLC17A1 missense variant which increases urate export. (PMID: 27906618) Sakiyama M … Shinomiya N (Nucleosides, nucleotides & nucleic acids 2016) 3 4 56
  4. Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. (PMID: 21208937) Pichler I … Pramstaller PP (Human molecular genetics 2011) 3 43 56
  5. Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. (PMID: 21149283) Oexle K … Meitinger T (Human molecular genetics 2011) 3 43 56

Products for SLC17A1 Gene

Sources for SLC17A1 Gene