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Aliases for SLC13A1 Gene

Aliases for SLC13A1 Gene

  • Solute Carrier Family 13 Member 1 2 3 5
  • Solute Carrier Family 13 (Sodium/Sulphate Symporters), Member 1 2 3
  • Renal Sodium/Sulfate Cotransporter 3 4
  • Na(+)/Sulfate Cotransporter 3 4
  • NAS1 3 4
  • Solute Carrier Family 13 (Sodium/Sulfate Symporters), Member 1 3
  • Solute Carrier Family 13 (Sodium/Sulfate Symporter), Member 1 2
  • HNaSi-1 4
  • NaSi-1 3
  • NASI1 4

External Ids for SLC13A1 Gene

Previous GeneCards Identifiers for SLC13A1 Gene

  • GC07M121231
  • GC07M122294
  • GC07M122308
  • GC07M122347
  • GC07M122540
  • GC07M122753
  • GC07M117116

Summaries for SLC13A1 Gene

Entrez Gene Summary for SLC13A1 Gene

  • The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]

GeneCards Summary for SLC13A1 Gene

SLC13A1 (Solute Carrier Family 13 Member 1) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and sodium:sulfate symporter activity. An important paralog of this gene is SLC13A4.

UniProtKB/Swiss-Prot for SLC13A1 Gene

  • Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC13A1 Gene

Genomics for SLC13A1 Gene

Regulatory Elements for SLC13A1 Gene

Enhancers for SLC13A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G123204 0.5 FANTOM5 3.6 -4.3 -4259 0.2 RFX1 GATA2 FOS TAS2R16 SLC13A1 GC07M123231
GH07G123191 0.8 ENCODE 0.4 +8.5 8466 0.9 PKNOX1 FOXA2 NFIB JUN BMI1 ZNF644 CTBP1 GATA3 SCRT2 FOSL2 SLC13A1 ENSG00000226680
GH07G123198 0.4 ENCODE 0.7 +0.7 674 1.6 ZNF146 ZNF18 ENSG00000232524 SLC13A1 ENSG00000226680
GH07G123209 0.7 ENCODE 0.4 -10.0 -9975 1.7 GATAD2A CTCF PKNOX1 TFAP4 FOXA2 ELF4 ZNF2 ZBTB40 TBX3 CTBP1 SLC13A1 GC07M123231
GH07G123210 0.6 ENCODE 0.4 -9.1 -9090 0.0 CTCF CTBP1 PKNOX1 FOXA2 SUZ12 ZNF2 RAD21 SLC13A1 GC07M123231
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC13A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC13A1 Gene

Chromosome:
7
Start:
123,113,531 bp from pter
End:
123,199,986 bp from pter
Size:
86,456 bases
Orientation:
Minus strand

Genomic View for SLC13A1 Gene

Genes around SLC13A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC13A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC13A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC13A1 Gene

Proteins for SLC13A1 Gene

  • Protein details for SLC13A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZW2-S13A1_HUMAN
    Recommended name:
    Solute carrier family 13 member 1
    Protein Accession:
    Q9BZW2
    Secondary Accessions:
    • Q9H5Z0

    Protein attributes for SLC13A1 Gene

    Size:
    595 amino acids
    Molecular mass:
    66134 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC13A1 Gene

Post-translational modifications for SLC13A1 Gene

  • Glycosylation at isoforms=174, isoforms=207, and isoforms=591
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC13A1 Gene

Domains & Families for SLC13A1 Gene

Gene Families for SLC13A1 Gene

Protein Domains for SLC13A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZW2

UniProtKB/Swiss-Prot:

S13A1_HUMAN :
  • Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily.
Family:
  • Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily.
genes like me logo Genes that share domains with SLC13A1: view

Function for SLC13A1 Gene

Molecular function for SLC13A1 Gene

UniProtKB/Swiss-Prot Function:
Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney.
UniProtKB/Swiss-Prot Induction:
Inhibited by thiosulfate, selenate, molybdate, tungstate, citrate and succinate.

Gene Ontology (GO) - Molecular Function for SLC13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008271 secondary active sulfate transmembrane transporter activity IEA --
GO:0015293 symporter activity IEA --
GO:0015382 sodium:sulfate symporter activity TAS --
genes like me logo Genes that share ontologies with SLC13A1: view
genes like me logo Genes that share phenotypes with SLC13A1: view

Animal Models for SLC13A1 Gene

MGI Knock Outs for SLC13A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SLC13A1 Gene

Localization for SLC13A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC13A1 Gene

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 SLC13A1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC13A1: view

Pathways & Interactions for SLC13A1 Gene

genes like me logo Genes that share pathways with SLC13A1: view

Interacting Proteins for SLC13A1 Gene

Gene Ontology (GO) - Biological Process for SLC13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0008272 sulfate transport IBA --
GO:0035725 sodium ion transmembrane transport IBA --
genes like me logo Genes that share ontologies with SLC13A1: view

No data available for SIGNOR curated interactions for SLC13A1 Gene

Drugs & Compounds for SLC13A1 Gene

(3) Drugs for SLC13A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0

(5) Additional Compounds for SLC13A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC13A1: view

Transcripts for SLC13A1 Gene

Unigene Clusters for SLC13A1 Gene

Solute carrier family 13 (sodium/sulfate symporters), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC13A1 Gene

No ASD Table

Relevant External Links for SLC13A1 Gene

GeneLoc Exon Structure for
SLC13A1
ECgene alternative splicing isoforms for
SLC13A1

Expression for SLC13A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC13A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC13A1 Gene

This gene is overexpressed in Kidney - Cortex (x34.3) and Small Intestine - Terminal Ileum (x16.1).

NURSA nuclear receptor signaling pathways regulating expression of SLC13A1 Gene:

SLC13A1

SOURCE GeneReport for Unigene cluster for SLC13A1 Gene:

Hs.489849

mRNA Expression by UniProt/SwissProt for SLC13A1 Gene:

Q9BZW2-S13A1_HUMAN
Tissue specificity: Highly expressed in kidney; not detectable in the other tissues tested.

Evidence on tissue expression from TISSUES for SLC13A1 Gene

  • Kidney(4.6)
  • Intestine(4.4)
genes like me logo Genes that share expression patterns with SLC13A1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC13A1 Gene

Orthologs for SLC13A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC13A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC13A1 34 35
  • 99.33 (n)
cow
(Bos Taurus)
Mammalia SLC13A1 34 35
  • 87.79 (n)
dog
(Canis familiaris)
Mammalia SLC13A1 34 35
  • 85.43 (n)
rat
(Rattus norvegicus)
Mammalia Slc13a1 34
  • 83.98 (n)
mouse
(Mus musculus)
Mammalia Slc13a1 34 16 35
  • 83.67 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC13A1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC13A1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC13A1 34 35
  • 73.12 (n)
lizard
(Anolis carolinensis)
Reptilia SLC13A1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc13a1 34
  • 68.71 (n)
Str.2252 34
zebrafish
(Danio rerio)
Actinopterygii slc13a1 34 35
  • 60.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta Indy-2 35
  • 29 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F31F6.6 36
  • 33 (a)
nac-1 35
  • 33 (a)
ManyToMany
nac-3 35
  • 33 (a)
ManyToMany
B0285.6 36
  • 32 (a)
R107.1 36
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
Species where no ortholog for SLC13A1 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for SLC13A1 Gene

ENSEMBL:
Gene Tree for SLC13A1 (if available)
TreeFam:
Gene Tree for SLC13A1 (if available)

Paralogs for SLC13A1 Gene

Paralogs for SLC13A1 Gene

genes like me logo Genes that share paralogs with SLC13A1: view

Variants for SLC13A1 Gene

Sequence variations from dbSNP and Humsavar for SLC13A1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs138184794 Benign 123,134,504(+) AAAGT(C/T)GAGGC reference, missense
rs761906487 Benign 123,171,856(+) ACAGA(G/T)AACTC reference, missense, utr-variant-5-prime
rs1000008540 -- 123,139,428(+) TAGGA(-/T)TTTTT intron-variant
rs1000047050 -- 123,159,412(+) ACAGA(C/G)AAAAC intron-variant
rs1000079295 -- 123,133,060(+) TTGAC(G/T)TCTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC13A1 Gene

Variant ID Type Subtype PubMed ID
dgv1327e214 CNV gain 21293372
dgv6605n100 CNV gain 25217958
dgv6606n100 CNV gain 25217958
esv2735094 CNV deletion 23290073
esv2759560 CNV gain 17122850
esv3364955 CNV duplication 20981092
esv3376655 CNV duplication 20981092
esv3391784 CNV duplication 20981092
esv3418184 CNV duplication 20981092
esv3451582 CNV duplication 20981092
esv34917 CNV gain 17911159
esv3542371 CNV deletion 23714750
esv3572118 CNV loss 25503493
esv3572121 CNV loss 25503493
esv3614849 CNV loss 21293372
esv3891198 CNV gain 25118596
esv3891199 CNV loss 25118596
nsv1019131 CNV gain 25217958
nsv1022567 CNV loss 25217958
nsv1023569 CNV gain 25217958
nsv1033520 CNV loss 25217958
nsv520314 CNV gain 19592680
nsv524192 CNV gain 19592680
nsv818551 CNV gain 17921354

Variation tolerance for SLC13A1 Gene

Residual Variation Intolerance Score: 75.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.47; 43.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC13A1 Gene

Human Gene Mutation Database (HGMD)
SLC13A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC13A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC13A1 Gene

Disorders for SLC13A1 Gene

Relevant External Links for SLC13A1

Genetic Association Database (GAD)
SLC13A1
Human Genome Epidemiology (HuGE) Navigator
SLC13A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC13A1

No disorders were found for SLC13A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC13A1 Gene

Publications for SLC13A1 Gene

  1. The human renal sodium sulfate cotransporter (SLC13A1; hNaSi-1) cDNA and gene: organization, chromosomal localization, and functional characterization. (PMID: 11161786) Lee A. … Markovich D. (Genomics 2000) 2 3 4 22 25 64
  2. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PMID: 19401682) Maestrini E. … Monaco A.P. (Mol. Psychiatry 2010) 3 46 64
  3. Association of genetic polymorphisms with hepatotoxicity in patients with childhood acute lymphoblastic leukemia or lymphoma. (PMID: 20670164) Horinouchi M. … Nakamura T. (Pediatr Hematol Oncol 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Serines 260 and 288 are involved in sulfate transport by hNaSi-1. (PMID: 12857732) Li H. … Pajor A.M. (J. Biol. Chem. 2003) 3 22 64

Products for SLC13A1 Gene

Sources for SLC13A1 Gene

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