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 SLC13A2.
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 CIViC summary , 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers 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
-
Custom Antibody ServicesOriGene Antibodies for SLC13A5
- Novus Biologicals Antibodies for SLC13A5
-
Abcam antibodies for SLC13A5
- Invitrogen Antibodies for SLC13A5
- antibodies-online Antibodies for SLC13A5: See all 20
- Search GeneTex for Antibodies for SLC13A5
-
Santa Cruz Biotechnology (SCBT) Antibodies for SLC13A5
Protein Products
-
OriGene Purified Proteins for SLC13A5
- Search Origene for MassSpec and Protein Over-expression Lysates for SLC13A5
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- Novus Biologicals proteins for SLC13A5
- Search GeneTex for Proteins for SLC13A5
-
Abcam proteins for SLC13A5
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015137 | citrate transmembrane transporter activity | TAS | -- |
| GO:0015141 | succinate transmembrane transporter activity | IBA | -- |
| GO:0015142 | tricarboxylic acid transmembrane transporter activity | IEA | -- |
| GO:0015293 | symporter activity | IEA | -- |
| GO:0017153 | sodium:dicarboxylate symporter activity | IBA | -- |
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
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for SLC13A5 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC13A5 gene
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CRISPR Products
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-
Santa Cruz Biotechnology (SCBT) CRISPR for SLC13A5
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miRNA Products
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Inhibitory RNA Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for SLC13A5
-
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-
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-
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No data available for Enzyme Numbers (IUBMB) , 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 |
| 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 | -- |
Pathways & Interactions for SLC13A5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
.37
|
|
Pathways by source for SLC13A5 Gene
Interacting Proteins for SLC13A5 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:0006842 | tricarboxylic acid transport | IEA | -- |
| GO:0015744 | succinate transport | IEA | -- |
No data available for SIGNOR curated interactions for SLC13A5 Gene
Transcripts for SLC13A5 Gene
mRNA/cDNA for SLC13A5 Gene
- (5) 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
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for SLC13A5
- Browse OriGene Inhibitory RNA Products For SLC13A5
-
ViGene Biosciences ready-to-package AAV shRNAs for SLC13A5 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SLC13A5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC13A5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| 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, MaxQB, and MOPED for SLC13A5 Gene
NURSA nuclear receptor signaling pathways regulating expression of SLC13A5 Gene:
SLC13A5SOURCE GeneReport for Unigene cluster for SLC13A5 Gene:
Hs.399496mRNA 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.
Evidence on tissue expression from TISSUES for SLC13A5 Gene
- Liver(4.6)
- Nervous system(4.6)
- Lymph node(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC13A5 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- face
- forehead
- head
- lip
- mouth
- nose
- pharynx
- skull
Thorax:
- chest wall
- diaphragm
- esophagus
- lung
- rib
- rib cage
Abdomen:
- abdominal wall
- intestine
- large intestine
- stomach
Pelvis:
- pelvis
- rectum
Limb:
- digit
- finger
- foot
- hand
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
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 |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLC13A5 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | SLC13A5 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | SLC13A5 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slc13a5 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Slc13a5 34 16 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SLC13A5 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SLC13A5 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLC13A5 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SLC13A5 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | slc13a5 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | slc13a5a 34 35 |
|
||
| slc13a5b 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Indy 35 |
|
ManyToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | nac-3 35 |
|
ManyToMany | |
| nac-1 35 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PHO91 37 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
ManyToMany | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.7160 34 |
|
- Species where no ortholog for SLC13A5 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)
- 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 |
|---|---|---|---|---|---|
| rs1057517820 | Pathogenic | 6,703,914(-) | GCCTG(-/G)AGCTG | reference, frameshift-variant | |
| rs1057518299 | Pathogenic | 6,693,091(-) | GGGGC(-/C)ATCGT | reference, frameshift-variant | |
| rs1057519449 | Pathogenic | 6,687,629(-) | CATGC(C/T)GCCCT | intron-variant, reference, missense, utr-variant-3-prime | |
| rs144332569 | Pathogenic | 6,703,031(+) | GCCCC(C/T)GATGC | reference, missense | |
| rs150203483 | Pathogenic | 6,695,759(+) | TCAGC(C/T)AGCCG | reference, stop-gained |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC13A5 Gene
Disorders for SLC13A5 Gene
(9) MalaCards diseases for SLC13A5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epileptic encephalopathy, early infantile, 25 |
|
|
| undetermined early-onset epileptic encephalopathy |
|
|
| localized osteosarcoma |
|
|
| cavernous sinus thrombosis |
|
|
| cervix small cell carcinoma |
|
|
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 22 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
- 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 22 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
Products for SLC13A5 Gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for SLC13A5
- VectorBuilder custom plasmid, inducible vectors for SLC13A5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLC13A5
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
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