Aliases for SLC13A5 Gene
Aliases for SLC13A5 Gene
External Ids for SLC13A5 Gene
- HGNC: 23089
- Entrez Gene: 284111
- Ensembl: ENSG00000141485
- OMIM: 608305
- UniProtKB: Q86YT5
Previous GeneCards Identifiers for SLC13A5 Gene
- GC17M006532
- GC17M006788
- GC17M006529
- GC17M006588
- GC17M006483
Summaries 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
Enhancers for SLC13A5 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around SLC13A5 on UCSC Golden Path with GeneCards custom track
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
- Transcription factor binding sites by QIAGEN in the SLC13A5 gene promoter:
Regulatory Element Products
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:
-
- 17p13.1 by Ensembl
- 17p13.1 by Entrez Gene
- 17p13.1 by HGNC
SLC13A5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B3KXR0
- B7Z4P2
- B7ZLB4
- F8W7N2
- Q6ZMG1
Protein attributes for SLC13A5 Gene
- Size:
- 568 amino acids
- Molecular mass:
- 63062 Da
- Quaternary structure:
- No Data Available
Protein Expression for SLC13A5 Gene
Post-translational modifications for SLC13A5 Gene
Other Protein References for SLC13A5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SLC13A5
- Abcam antibodies for SLC13A5
- Invitrogen Antibodies for SLC13A5
- antibodies-online Antibodies for SLC13A5: See all 20
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-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC13A5
Protein Products
-
OriGene Purified Proteins for SLC13A5
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- Abcam proteins for SLC13A5
Assay Products
No data available for DME Specific Peptides for SLC13A5 Gene
Domains & Families for SLC13A5 Gene
Gene Families for SLC13A5 Gene
- HGNC:
- IUPHAR :
Protein Domains for SLC13A5 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLC13A5 Gene
Graphical View of Domain Structure for InterPro Entry
Q86YT5UniProtKB/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.
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.
Phenotypes for SLC13A5 Gene
- MGI mutant phenotypes for SLC13A5:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SLC13A5:
Animal Models for SLC13A5 Gene
- MGI Knock Outs for SLC13A5:
-
- Slc13a5 tm1.2Helf
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC13A5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC13A5 gene
- Search ViGene Biosciences for SLC13A5
CRISPR Products
-
OriGene CRISPR knockouts for SLC13A5
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC13A5
- GenScript: Design CRISPR guide RNA sequences for SLC13A5
miRNA Products
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Clone Products
- OriGene clones in human for SLC13A5
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Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for SLC13A5 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC13A5 gene
-
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Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 1 |
No data available for Gene Ontology (GO) - Cellular Components for SLC13A5 Gene
Pathways & Interactions for SLC13A5 Gene
More details on SuperPathways for SLC13A5| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
.38
|
Pathways by source for SLC13A5 Gene
Interacting Proteins for SLC13A5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015746 | citrate transport | IBA | -- |
No data available for SIGNOR curated interactions for SLC13A5 Gene
Transcripts for SLC13A5 Gene
mRNA/cDNA for SLC13A5 Gene
- (6) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (59) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLC13A5 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SLC13A5
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC13A5
- GenScript: Design CRISPR guide RNA sequences for SLC13A5
miRNA Products
- Search ViGene Biosciences for SLC13A5
Clone Products
- OriGene clones in human for SLC13A5
- OriGene ORF clones in human,mouse,rat for SLC13A5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| 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: |
Expression for SLC13A5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
-
Limb (Muscoskeletal System)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Ectoderm (Gastrulation Derivatives)
- Apical Ectodermal Ridge Cells Limb Ectoderm
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for SLC13A5 Gene
This gene is overexpressed in Liver (x47.4).
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.
Primer Products
-
OriGene qPCR primer pairs for SLC13A5
Orthologs for SLC13A5 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | SLC13A5 35 |
|
||
| SLC13A5 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | SLC13A5 35 |
|
||
| SLC13A5 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Slc13a5 35 |
|
||
| Slc13a5 16 |
|
||||
| Slc13a5 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | SLC13A5 35 |
|
||
| SLC13A5 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Slc13a5 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SLC13A5 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SLC13A5 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC13A5 35 |
|
||
| SLC13A5 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | SLC13A5 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc13a5 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | slc13a5a 35 |
|
||
| slc13a5a 36 |
|
OneToMany | |||
| slc13a5b 36 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Indy 36 |
|
ManyToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | nac-1 36 |
|
ManyToMany | |
| nac-3 36 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PHO91 38 |
|
|
|
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.7160 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
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)
Paralogs for SLC13A5 Gene
(5) SIMAP similar genes for SLC13A5 Gene using alignment to 9 proteins:
Variants for SLC13A5 Gene
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs170149 | -- | 6,692,611(+) | CCTAC(A/G)CTGCT | intron-variant | |
| rs172642 | -- | 6,692,079(+) | CTGGC(A/C)TAACA | intron-variant | |
| rs183379 | -- | 6,705,183(+) | AAGCC(C/T)GGGAC | intron-variant | |
| rs184294 | -- | 6,698,784(+) | TGTAA(C/T)GCCAG | intron-variant | |
| rs184295 | -- | 6,700,347(+) | CAGAG(A/G)TATTC | intron-variant |
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
- Human Gene Mutation Database (HGMD)
- SLC13A5
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC13A5 Gene
Disorders for SLC13A5 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 25 |
|
|
| undetermined early-onset epileptic encephalopathy |
|
|
| n syndrome |
|
|
| cervix small cell carcinoma |
|
|
| localized osteosarcoma |
|
|
Search SLC13A5 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for SLC13A5
No data available for UniProtKB/Swiss-Prot and Genatlas for SLC13A5 Gene
Publications for SLC13A5 Gene
- 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
- 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
- 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
- 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
- Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. (PMID: 26384929) Hardies K. … De Jonghe P. (Brain 2015) 3
Products for SLC13A5 Gene
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- ViGene Biosciences adenoviral particle packaged cDNA for SLC13A5 gene
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Sources for SLC13A5 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
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- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
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- (64) Nature
- (65) NCBI
- (66) OriGene
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- (68) R&D Systems
- (69) Salk
- (70) TGDB
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- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
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- (107) COMPARTMENTS
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