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Aliases for SLC13A5 Gene

Aliases for SLC13A5 Gene

  • Solute Carrier Family 13 Member 5 2 3
  • Solute Carrier Family 13 (Sodium-Dependent Citrate Transporter), Member 5 2 3 5
  • Na(+)/Citrate Cotransporter 3 4
  • NaCT 3 4
  • Sodium-Dependent Dicarboxylate Transporter 3
  • Na+-Coupled Citrate Transporter Protein 3
  • Sodium-Dependent Citrate Transporter 4
  • Sodium-Coupled Citrate Transporter 4
  • EIEE25 3
  • MIndy 3

External Ids for SLC13A5 Gene

Previous GeneCards Identifiers for SLC13A5 Gene

  • GC17M006532
  • GC17M006788
  • GC17M006529
  • GC17M006588
  • GC17M006483

Summaries for SLC13A5 Gene

Entrez Gene Summary for SLC13A5 Gene

  • This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

GeneCards Summary for SLC13A5 Gene

SLC13A5 (Solute Carrier Family 13 Member 5) is a Protein Coding gene. Diseases associated with SLC13A5 include epileptic encephalopathy, early infantile, 25 and undetermined early-onset epileptic encephalopathy. 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 citrate transmembrane transporter activity. An important paralog of this gene is SLC13A4.

UniProtKB/Swiss-Prot for SLC13A5 Gene

  • High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC13A5 Gene

Genomics for SLC13A5 Gene

Regulatory Elements for SLC13A5 Gene

Promoters for SLC13A5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC13A5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC13A5 Gene

Chromosome:
17
Start:
6,684,713 bp from pter
End:
6,713,567 bp from pter
Size:
28,855 bases
Orientation:
Minus strand

Genomic View for SLC13A5 Gene

Genes around SLC13A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC13A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC13A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC13A5 Gene

Proteins for SLC13A5 Gene

  • Protein details for SLC13A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YT5-S13A5_HUMAN
    Recommended name:
    Solute carrier family 13 member 5
    Protein Accession:
    Q86YT5
    Secondary Accessions:
    • B3KXR0
    • B7Z4P2
    • B7ZLB4
    • F8W7N2
    • Q6ZMG1

    Protein attributes for SLC13A5 Gene

    Size:
    568 amino acids
    Molecular mass:
    63062 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC13A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC13A5 Gene

Proteomics data for SLC13A5 Gene at MOPED

Post-translational modifications for SLC13A5 Gene

  • Glycosylation at Asn 562
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC13A5 Gene

Domains & Families for SLC13A5 Gene

Gene Families for SLC13A5 Gene

Protein Domains for SLC13A5 Gene

Graphical View of Domain Structure for InterPro Entry

Q86YT5

UniProtKB/Swiss-Prot:

S13A5_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 SLC13A5: view

Function for SLC13A5 Gene

Molecular function for SLC13A5 Gene

UniProtKB/Swiss-Prot Function:
High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol.
genes like me logo Genes that share phenotypes with SLC13A5: view

Human Phenotype Ontology for SLC13A5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC13A5 Gene

MGI Knock Outs for SLC13A5:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for SLC13A5 Gene

Localization for SLC13A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC13A5 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC13A5 Gene COMPARTMENTS Subcellular localization image for SLC13A5 gene
Compartment Confidence
plasma membrane 5
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for SLC13A5 Gene

Pathways & Interactions for SLC13A5 Gene

genes like me logo Genes that share pathways with SLC13A5: view

Interacting Proteins for SLC13A5 Gene

Gene Ontology (GO) - Biological Process for SLC13A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015746 citrate transport IBA --
genes like me logo Genes that share ontologies with SLC13A5: view

No data available for SIGNOR curated interactions for SLC13A5 Gene

Drugs & Compounds for SLC13A5 Gene

(1) Additional Compounds for SLC13A5 Gene - From: 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 SLC13A5: view

Transcripts for SLC13A5 Gene

Unigene Clusters for SLC13A5 Gene

Solute carrier family 13 (sodium-dependent citrate transporter), member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC13A5 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4: - - - - -
SP5: -
SP6:
SP7: - - -
SP8:

Relevant External Links for SLC13A5 Gene

GeneLoc Exon Structure for
SLC13A5
ECgene alternative splicing isoforms for
SLC13A5

Expression for SLC13A5 Gene

mRNA expression in normal human tissues for SLC13A5 Gene

mRNA differential expression in normal tissues according to GTEx for SLC13A5 Gene

This gene is overexpressed in Liver (x47.4).

Protein differential expression in normal tissues from HIPED for SLC13A5 Gene

This gene is overexpressed in Liver (31.2), Fetal Liver (24.6), Frontal cortex (7.0), and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC13A5 Gene



SOURCE GeneReport for Unigene cluster for SLC13A5 Gene Hs.399496

mRNA Expression by UniProt/SwissProt for SLC13A5 Gene

Q86YT5-S13A5_HUMAN
Tissue specificity: Expressed most predominantly in the liver, with moderate expression detectable in the brain and testis.
genes like me logo Genes that share expression patterns with SLC13A5: view

Protein tissue co-expression partners for SLC13A5 Gene

Primer Products

In Situ Assay Products

Orthologs for SLC13A5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC13A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC13A5 35
  • 99.18 (n)
  • 99.38 (a)
SLC13A5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC13A5 36
  • 77 (a)
OneToOne
SLC13A5 35
  • 87.31 (n)
  • 82.52 (a)
dog
(Canis familiaris)
Mammalia SLC13A5 35
  • 85.92 (n)
  • 84.86 (a)
SLC13A5 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc13a5 16
Slc13a5 35
  • 80.11 (n)
  • 75 (a)
Slc13a5 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC13A5 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC13A5 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc13a5 35
  • 81.46 (n)
  • 77.82 (a)
chicken
(Gallus gallus)
Aves SLC13A5 36
  • 61 (a)
OneToOne
SLC13A5 35
  • 65.04 (n)
  • 65.82 (a)
lizard
(Anolis carolinensis)
Reptilia SLC13A5 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc13a5 35
  • 65.13 (n)
  • 65.72 (a)
zebrafish
(Danio rerio)
Actinopterygii slc13a5a 36
  • 60 (a)
OneToMany
slc13a5b 36
  • 56 (a)
OneToMany
slc13a5a 35
  • 65.25 (n)
  • 63.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta Indy 36
  • 34 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nac-1 36
  • 38 (a)
ManyToMany
nac-3 36
  • 39 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO91 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7160 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
ManyToMany
Species with no ortholog for SLC13A5:
  • 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)
  • 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 SLC13A5 Gene

ENSEMBL:
Gene Tree for SLC13A5 (if available)
TreeFam:
Gene Tree for SLC13A5 (if available)

Paralogs for SLC13A5 Gene

Paralogs for SLC13A5 Gene

genes like me logo Genes that share paralogs with SLC13A5: view

Variants for SLC13A5 Gene

Sequence variations from dbSNP and Humsavar for SLC13A5 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs218682 -- 6,710,969(+) TTTTT(C/T)AATTA intron-variant
rs218686 -- 6,694,459(+) TAAAA(A/G)TACAA intron-variant
rs218688 -- 6,685,818(+) GGATC(C/T)GATTC utr-variant-3-prime
rs218689 -- 6,686,031(+) CCATG(A/T)CCATC utr-variant-3-prime
rs218690 -- 6,686,564(+) GCCCG(C/T)GCGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC13A5 Gene

Variant ID Type Subtype PubMed ID
nsv907630 CNV Gain 21882294
nsv907631 CNV Loss 21882294

Variation tolerance for SLC13A5 Gene

Residual Variation Intolerance Score: 6.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC13A5 Gene

HapMap Linkage Disequilibrium report
SLC13A5
Human Gene Mutation Database (HGMD)
SLC13A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC13A5 Gene

Disorders for SLC13A5 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SLC13A5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 25
  • early infantile epileptic encephalopathy 25
undetermined early-onset epileptic encephalopathy
  • undetermined eoee
epileptic encephalopathy, early infantile, 31
  • eiee31
n syndrome
  • nsx
cervix small cell carcinoma
  • small cell carcinoma of the cervix
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC13A5

Genetic Association Database (GAD)
SLC13A5
Human Genome Epidemiology (HuGE) Navigator
SLC13A5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC13A5
genes like me logo Genes that share disorders with SLC13A5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC13A5 Gene

Publications for SLC13A5 Gene

  1. Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function. (PMID: 12445824) Inoue K. … Ganapathy V. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 23 67
  2. Identification of transport pathways for citric acid cycle intermediates in the human colon carcinoma cell line, Caco-2. (PMID: 18194662) Weerachayaphorn J. … Pajor A.M. (Biochim. Biophys. Acta 2008) 3 23
  3. Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action. (PMID: 12826022) Inoue K. … Ganapathy V. (Biochem. J. 2003) 3 23
  4. SLC13A5 is a novel transcriptional target of the pregnane X receptor and sensitizes drug-induced steatosis in human liver. (PMID: 25628225) Li L. … Wang H. (Mol. Pharmacol. 2015) 3
  5. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3

Products for SLC13A5 Gene

Sources for SLC13A5 Gene

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