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SLC13A5 Gene

protein-coding   GIFtS: 55
GCID: GC17M006588

Solute Carrier Family 13 (Sodium-Dependent Citrate Transporter),...

  See SLC13A5-related disease
at
MalaCards
 

Aliases
for SLC13A5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 13 (Sodium-Dependent Citrate Transporter), Member
51 2
     Na(+)/Citrate Cotransporter2 3
NACT2 3 5     Solute Carrier Family 13 Member 52
Sodium-Coupled Citrate Transporter2 3     Solute Carrier Family 13, Member 52
Sodium-Dependent Citrate Transporter2 3     NaCT3

External Ids:    HGNC: 230891   Entrez Gene: 2841112   Ensembl: ENSG000001414857   OMIM: 6083055   UniProtKB: Q86YT53   

Export aliases for SLC13A5 gene to outside databases

Previous GC identifers: GC17M006532 GC17M006788 GC17M006529 GC17M006483


Summaries
for SLC13A5 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC13A5 Gene:
SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate.(supplied by OMIM, Apr 2004)

GeneCards Summary for SLC13A5 Gene:
SLC13A5 (solute carrier family 13 (sodium-dependent citrate transporter), member 5) is a protein-coding gene. Diseases associated with SLC13A5 include epileptic encephalopathy, early infantile, 25. GO annotations related to this gene include succinate transmembrane transporter activity and sodium:dicarboxylate symporter activity. An important paralog of this gene is SLC13A4.

UniProtKB/Swiss-Prot: S13A5_HUMAN, Q86YT5
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




Genomic Views
for SLC13A5 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC13A5 gene promoter:
         AhR   GATA-3   GATA-1   Arnt   AREB6   E2F-1   E2F   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC13A5 promoter sequence
   Search Chromatin IP Primers for SLC13A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC13A5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

SLC13A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC13A5 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M006588:  view genomic region     (about GC identifiers)

Start:
 6,588,032 bp from pter      End:
 6,616,886 bp from pter
Size:
 28,855 bases      Orientation:
 minus strand

Proteins
for SLC13A5 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: S13A5_HUMAN, Q86YT5 (See protein sequence)
Recommended Name: Solute carrier family 13 member 5  
Size: 568 amino acids; 63062 Da
Secondary accessions: B7ZLB4 Q6ZMG1
Alternative splicing: 2 isoforms:  Q86YT5-1   Q86YT5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC13A5: NX_Q86YT5

Explore proteomics data for SLC13A5 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn562

    • See SLC13A5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001137310.1  NP_001271438.1  NP_001271439.1  NP_808218.1  

    ENSEMBL proteins: 
     ENSP00000406220   ENSP00000293800   ENSP00000370464   ENSP00000459372   ENSP00000460037  
     ENSP00000466899   ENSP00000461495   ENSP00000461622   ENSP00000461554   ENSP00000460903  
    Reactome Protein details: Q86YT5

    SLC13A5 Human Recombinant Protein Products:

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    Novus Biologicals SLC13A5 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SLC13A5

         		 Search eBioscience for Proteins for SLC13A5 

         		antibodies-online proteins for SLC13A5 (2 products) 

         		 Search antibodies-online for peptides for SLC13A5

    SLC13A5 Antibody Products:

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    antibodies-online antibodies for SLC13A5 (14 products) 

    SLC13A5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for SLC13A5
    Cloud-Clone Corp. CLIAs for SLC13A5
    Search eBioscience for ELISAs for SLC13A5 
    antibodies-online kits for SLC13A5 (6 products) 

    Domains /
    Families
    for SLC13A5 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Na+/citrate cotransporter
    SLC13 family of sodium-dependent sulphate/carboxylate transporters

    1 InterPro protein domain:
     IPR001898 Na/sul_symport

    Graphical View of Domain Structure for InterPro Entry Q86YT5

    ProtoNet protein and cluster: Q86YT5

    1 Blocks protein domain: IPB001898 Sodium/sulphate symporter

    UniProtKB/Swiss-Prot: S13A5_HUMAN, Q86YT5
    Similarity: Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily


    Find genes that share domains with SLC13A5           About GenesLikeMe


    Function
    for SLC13A5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S13A5_HUMAN, Q86YT5
    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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0005343organic acid:sodium symporter activity ----
    GO:0015137citrate transmembrane transporter activity IEA--
    GO:0015141succinate transmembrane transporter activity IEA--
    GO:0015142tricarboxylic acid transmembrane transporter activity ----
         
    Find genes that share ontologies with SLC13A5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SLC13A5:
     Proliferating cells 

         7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Slc13a5):
     adipose tissue  behavior/neurological  growth/size/body  homeostasis/metabolism  liver/biliary system 
     muscle  no phenotypic analysis 

    Find genes that share phenotypes with SLC13A5           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SLC13A5

    miRNA
    Products:            		Block miRNA regulation of human, mouse, rat SLC13A5 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SLC13A5:
    hsa-miR-4303 hsa-miR-9 hsa-miR-122 hsa-miR-1976
    SwitchGear 3'UTR luciferase reporter plasmid: SLC13A5 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for SLC13A5
    Predesigned siRNA for gene silencing in human, mouse, rat SLC13A5

    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Localization
    for SLC13A5 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S13A5_HUMAN, Q86YT5: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0016323basolateral plasma membrane IEA--

    Find genes that share ontologies with SLC13A5           About GenesLikeMe


    Pathways & Interactions
    for SLC13A5 gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC13A5 About    
    See pathways by source

    		      Powered
    by    		     
    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    		SLC-mediated transmembrane transport0.47
    		Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    		Transmembrane transport of small molecules0.47
    		Sodium-coupled sulphate, di- and tri-carboxylate transporters0.00


    Find genes that share SuperPaths with SLC13A5           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC13A5
        Sodium-coupled sulphate, di- and tri-carboxylate transporters


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC13A5
    Interactions:

        Search GeneGlobe Interaction Network for SLC13A5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for SLC13A5 (ENSP000002938004) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC20A1ENSP000002725424STRING: ENSP00000272542
    SLC20A2ENSP000003404654STRING: ENSP00000340465
    SLC13A3ENSP000002790274STRING: ENSP00000279027
    AIMP1ENSP000003781914STRING: ENSP00000378191
    CDK14ENSP000002657414STRING: ENSP00000265741
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006814sodium ion transport ----
    GO:0006842tricarboxylic acid transport ----
    GO:0015744succinate transport ----
    GO:0015746citrate transport ----
    GO:0035674tricarboxylic acid transmembrane transport ----

    Find genes that share ontologies with SLC13A5           About GenesLikeMe



    Drugs & Compounds
    for SLC13A5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC13A5 (S13A5)

    1 HMDB Compound for SLC13A5    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--



    Transcripts
    for SLC13A5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC13A5 gene (4 alternative transcripts): 
    NM_001143838.2  NM_001284509.1  NM_001284510.1  NM_177550.4  

    Unigene Cluster for SLC13A5:

    Solute carrier family 13 (sodium-dependent citrate transporter), member 5
    Hs.399496  [show with all ESTs]
    Unigene Representative Sequence: BX647354
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000433363(uc002gdj.3 uc010vtf.2 uc010clq.3 uc002gdk.3)
    ENST00000574580 ENST00000293800 ENST00000381074 ENST00000573648 ENST00000570687
    ENST00000572727 ENST00000574824(uc002gdl.1) ENST00000572094 ENST00000572352
    ENST00000576323 ENST00000575230
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat SLC13A5 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SLC13A5:
    hsa-miR-4303 hsa-miR-9 hsa-miR-122 hsa-miR-1976
    SwitchGear 3'UTR luciferase reporter plasmid: SLC13A5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLC13A5
    Clone
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      QuantiFast Probe-based Assays in human, mouse, rat SLC13A5

    Additional mRNA sequence: 

    AJ489980.1 AK124317.1 AK127797.1 AK131206.1 AK172779.1 AK172785.1 AK297612.1 AY151833.1 
    BC104795.1 BC112151.1 BC143689.1 BX647354.1 CR749584.1 

    8 DOTS entries:

    DT.215029  DT.40296888  DT.99942300  DT.100738015  DT.100000016  DT.102824130  DT.100648227  DT.92416972 

    Selected AceView cDNA sequences (see all 59):

    Z45042 BQ647893 Z40774 AK127797 BX445866 BX463054 BQ654357 CK300817 
    AW297485 AW297488 NM_177550 U92029 BX431856 BQ189694 BX951550 BQ654393 
    AK131206 AY151833 BG616615 AW592531 AI797218 R93718 CB163988 AK172785 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC13A5 (see all 8)    About this scheme

    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:                                                                                      -                                             


    ECgene alternative splicing isoforms for SLC13A5

    Expression
    for SLC13A5 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SLC13A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAGACAAGC
    SLC13A5 Expression
    About this image


    SLC13A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Zeugopod Growth Plate
             Chondrocyte-like cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Chondrocyte-like cells
    SLC13A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    SLC13A5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.399496

    UniProtKB/Swiss-Prot: S13A5_HUMAN, Q86YT5
    Tissue specificity: Expressed most predominantly in the liver, with moderate expression detectable in the brain
    and testis

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    In Situ
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    Orthologs
    for SLC13A5 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for SLC13A5 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Slc13a51 , 5 solute carrier family 13 (sodium-dependent citrate more1, 5 80.11(n)1
    75(a)1    		   11 (43.95 cM)5
    2378311  NM_001004148.41  NP_001004148.11 
     722419945 
    chicken
    (Gallus gallus)    		 Aves SLC13A51 solute carrier family 13 (sodium-dependent citrate more 65.04(n)
    65.82(a)    		   417678  XM_004946805.1  XP_004946862.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC13A56
    		 solute carrier family 13 (sodium-dependent citrate...
    		 67(a)
    		 1 ↔ 1
    		 AAWZ02039898(2012-7443)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia slc13a51 solute carrier family 13 (sodium-dependent citrate more 65.13(n)
    65.72(a)    		   100490590  XM_002933513.2  XP_002933559.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii slc13a5a1 info solute carrier family 13 (sodium-dependent citrate more 65.25(n)
    63.23(a)    		   503788  NM_001142566.1  NP_001136038.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Indy6
    		 I'm not dead yet
    		 34(a)
    		 many ↔ many
    		 3L(18821732-18839367)
    worm
    (Caenorhabditis elegans)    		 Secernentea nac-36
    nac-16
    		 Protein NAC-1 (nac-1) mRNA, complete cds
    		 39(a)
    38(a)
    		 many ↔ many
    many ↔ many
    		 III(10152795-10157920) WBGene00003519
    X(14895145-14898441) WBGene00003517


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

    Paralogs
    for SLC13A5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC13A5 gene
    SLC13A42  SLC13A12  SLC13A22  SLC13A32  
    5 SIMAP similar genes for SLC13A5 using alignment to 9 protein entries:     S13A5_HUMAN (see all proteins):
    DKFZp686E17257    SLC13A2    SLC13A3    SLC13A1    SLC13A4

    Find genes that share paralogs with SLC13A5           About GenesLikeMe



    Genomic Variants
    for SLC13A5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC13A5 (see all 820)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1852318781,2
    		--6587574(+) CCACCC/GTGTCT 2 -- ds50010--------
    rs601278251,2
    		C,F--6587576(+) ACCCTG/CTCTCA 2 -- ds50012Minor allele frequency- C:0.06WA 120
    rs1908774001,2
    		--6587631(+) GGACTC/TATGTT 2 -- ds50010--------
    rs1167727801,2
    		C,F--6587638(+) TGTTTG/TGAGAT 2 -- ds50011Minor allele frequency- T:0.06WA 118
    rs577917211,2
    		C,F--6587649(+) CTTCCC/GTTGGC 2 -- ds50012Minor allele frequency- G:0.07WA 120
    rs1833884161,2
    		C--6587657(+) GGCATA/GGACTT 2 -- ds50010--------
    rs1165408191,2
    		F--6587660(+) ATGGAC/TTTGCT 2 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1451173811,2
    		--6587793(+) TGTGAA/CTTTGG 2 -- ds50010--------
    rs1471454931,2
    		--6587861(+) TAACAC/GCTTCC 2 -- ds50010--------
    rs2010048161,2
    		C--6587875(+) CTCAC-/GGGTTG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for SLC13A5 (6588032 - 6616886 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SLC13A5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv907631CNV Loss21882294
    nsv907630CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC13A5
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC13A5

    Disorders / Diseases
    for SLC13A5 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 608305    OMIM disorders: --

    1 disease for SLC13A5:    
    About MalaCards
    epileptic encephalopathy, early infantile, 25


    Find genes that share disorders with SLC13A5           About GenesLikeMe

    Genetic Association Database (GAD): SLC13A5
    Human Genome Epidemiology (HuGE) Navigator: SLC13A5 (1 document)

    Export disorders for SLC13A5 gene to outside databases

    Publications
    for SLC13A5 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC13A5 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with SLC13A5)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function. (PubMed id 12445824)1, 2, 3, 9 Inoue K.... Ganapathy V. (Biochem. Biophys. Res. Commun. 2002)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action. (PubMed id 12826022)1, 9 Inoue K....Ganapathy V. (Biochem. J. 2003)
    6. The genetic architecture of economic and political preferences. (PubMed id 22566634)1 Benjamin D.J....Visscher P.M. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    7. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (J. Proteome Res. 2009)
    8. Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines. (PubMed id 16973915)1 Gopal E....Ganapathy V. (Am. J. Physiol. Gastrointest. Liver Physiol. 2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    10. Molecular properties of the SLC13 family of dicarboxylate and sulfate transporters. (PubMed id 16211368)1 Pajor A.M. (Pflugers Arch. 2006)

    External Searches for SLC13A5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SLC13A5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 284111 HGNC: 23089 AceView: SLC13A5 Ensembl:ENSG00000141485 euGenes: HUgn284111
    ECgene: SLC13A5 H-InvDB: SLC13A5

    Other Databases showing SLC13A5 gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing SLC13A5 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SLC13A5 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC13A5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for SLC13A5 gene:
    Search GeneIP for patents involving SLC13A5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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