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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CS Gene

protein-coding   GIFtS: 68
GCID: GC12M056666

Citrate Synthase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Citrate Synthase1 2
EC 2.3.3.13 8
Citrate Synthase, Mitochondrial2
EC 2.3.38

External Ids:    HGNC: 24221   Entrez Gene: 14312   Ensembl: ENSG000000624857   OMIM: 1189505   UniProtKB: O753903   

Export aliases for CS gene to outside databases

Previous GC identifers: GC12M056540 GC12P056603 GC12M056382 GC12M054951 GC12M053704


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CS Gene:
The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of
citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative
metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form
is found. (provided by RefSeq, Jul 2008)

GeneCards Summary for CS Gene: 
CS (citrate synthase) is a protein-coding gene. Diseases associated with CS include critical illness polyneuropathy, and guanidinoacetate methyltransferase deficiency, and among its related super-pathways are Citric acid cycle (TCA cycle) and Metabolic pathways. GO annotations related to this gene include citrate (Si)-synthase activity.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CS gene promoter:
         GR   PPAR-alpha   GR-alpha   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCS promoter sequence
   Search SABiosciences Chromatin IP Primers for CS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CS


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

Entrez Gene cytogenetic band: 12q13.2   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13.2

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M056666:  view genomic region     (about GC identifiers)

Start:
56,665,483 bp from pter      End:
56,694,176 bp from pter
Size:
28,694 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CISY_HUMAN, O75390 (See protein sequence)
Recommended Name: Citrate synthase, mitochondrial precursor  
Size: 466 amino acids; 51712 Da
Subunit: Homodimer (By similarity)
Subcellular location: Mitochondrion matrix
Miscellaneous: Citrate synthase is found in nearly all cells capable of oxidative metabolism
Sequence caution: Sequence=CAE45911.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: Q71UT9 Q7KZH0 Q96FZ8 Q9BWN8

Explore the universe of human proteins at neXtProt for CS: NX_O75390

Explore proteomics data for CS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75390

  • 4/34 DME Specific Peptides for CS (O75390) (see all 34)
     RLYLTIH  TALNSES  DPMFKLV  DLIPKEQ 

    CS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CS Protein Expression
    REFSEQ proteins: NP_004068.2  
    ENSEMBL proteins: 
     ENSP00000449571   ENSP00000446779   ENSP00000342056   ENSP00000449080   ENSP00000440543  
     ENSP00000446492   ENSP00000449491   ENSP00000448667   ENSP00000450403   ENSP00000447986  
     ENSP00000450312   ENSP00000449025   ENSP00000450101   ENSP00000447442   ENSP00000449427  
     ENSP00000448409   ENSP00000449753   ENSP00000448172   ENSP00000447948   ENSP00000447346  
     ENSP00000448166   ENSP00000447582  
    Reactome Protein details: O75390
    Human Recombinant Protein Products for CS: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for CS
    OriGene Protein Over-expression Lysate for CS
    OriGene MassSpec for CS 
    OriGene Custom Protein Services for CS
    GenScript Custom Purified and Recombinant Proteins Services for CS
    Novus Biologicals CS Proteins
    Novus Biologicals CS Lysate
    Sino Biological Recombinant Protein for CS
    Sino Biological Cell Lysate for CS 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CS 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--

    CS for ontologies           About GeneDecksing



    CS Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CS
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    LSBio Antibodies in human, mouse, rat for CS 

    Assay Products for CS: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CS 
    Cloud-Clone Corp. CLIAs for CS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR016142 Citrate_synth-like_lrg_a-sub
     IPR016141 Citrate_synthase-like_core
     IPR019810 Citrate_synthase_AS
     IPR010109 Citrate_synthase_euk
     IPR002020 Citrate_synthase-like

    Graphical View of Domain Structure for InterPro Entry O75390

    ProtoNet protein and cluster: O75390

    1 Blocks protein domain: IPB002020 Citrate synthase

    UniProtKB/Swiss-Prot: CISY_HUMAN, O75390
    Similarity: Belongs to the citrate synthase family


    CS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CISY_HUMAN, O75390
    Catalytic activity: Acetyl-CoA + H(2)O + oxaloacetate = citrate + CoA

         Genatlas biochemistry entry for CS:
    citrate synthase,mitochondrial,catalyzing the first step of citric acid cycle

         Enzyme Numbers (IUBMB): EC 2.3.3.11 2 EC 2.3.32

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004108citrate (Si)-synthase activity TAS--
    GO:0046912transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer ----
         
    CS for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CS:
     Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Cs):
     hearing/vestibular/ear 

    CS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CS 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CS 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CS
    8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate CS (see all 45):
    hsa-miR-3130-5p hsa-miR-507 hsa-miR-548l hsa-miR-649 hsa-miR-629 hsa-miR-4330 hsa-miR-23a hsa-miR-365
    SwitchGear 3'UTR luciferase reporter plasmidCS 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CS

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for CS
    Sirion Biotech Customized adenovirus for overexpression of CS

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CS (see all 12)
    OriGene ORF clones in mouse, rat for CS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CS (NM_001639)
    Sino Biological Human cDNA Clone for CS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CS
    Sirion Biotech Customized lentivirus for stable overexpression of CS 
                         Customized lentivirus expression plasmids for stable overexpression of CS 

    Cell Line
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    Search LifeMap BioReagents cell lines for CS
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CS


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CS About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.89
    TCA cycle0.84
    TCA Cycle0.89
    Citrate cycle (TCA cycle)0.58
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Carbon metabolism
    Carbon metabolism0.37
    Biosynthesis of amino acids0.37
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    5Pyruvate metabolism
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for CS
        TCA Cycle
    TCA cycle
    Conversion of glucose to acetyl CoA and entry into the TCA cycle


    5/6        Reactome Pathways for CS (see all 6)
        Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    Mitochondrial Protein Import
    Citric acid cycle (TCA cycle)
    Metabolism of proteins


    5/6         Kegg Pathways  (Kegg details for CS) (see all 6):
        Citrate cycle (TCA cycle)
    Glyoxylate and dicarboxylate metabolism
    Metabolic pathways
    Carbon metabolism
    2-Oxocarboxylic acid metabolism

    UniProtKB/Swiss-Prot: CISY_HUMAN, O75390
    Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 1/2


    CS for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/95 Interacting proteins for CS (O753902, 3 ENSP000003420564) via UniProtKB, MINT, STRING, and/or I2D (see all 95)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAB2Q9NYJ82, 3, ENSP000002863324MINT-48028 MINT-49210 I2D: score=3 STRING: ENSP00000286332
    CRYAAP024893, ENSP000002915544I2D: score=2 STRING: ENSP00000291554
    CHMP243863, ENSP000003503864I2D: score=1 STRING: ENSP00000350386
    IDH3GP515533, ENSP000002179014I2D: score=1 STRING: ENSP00000217901
    PDHBP111773, ENSP000003072414I2D: score=1 STRING: ENSP00000307241
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IDA9543345
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044262cellular carbohydrate metabolic process IEA--
    GO:0044281small molecule metabolic process TAS--

    CS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CS for compounds           About GeneDecksing

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

    Browse Tocris compounds for CS (CISY)

    5 HMDB Compounds for CS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Citric acid2-Hydroxy-1,2,3-propanetricarboxylate (see all 20)77-92-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Oxalacetic acid2-Ketosuccinate (see all 20)328-42-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    7 DrugBank Compounds for CS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-Fluoro-Carboxymethyldethia Coenzyme a Complex-- --target--17139284 17016423 10592235
    Citric Acid-- 77-92-9target--17139284 17016423 10592235
    Coenzyme A-- 85-61-0target--17139284 17016423 10592235
    Malate Ion-- --target--17139284 17016423 10592235
    Nitromethyldethia Coenzyme A-- --target--17139284 17016423 10592235
    Oxaloacetate Ion-- --target--17139284 17016423 10592235
    Trifluoroacetonyl Coenzyme A-- --target--17139284 17016423 10592235

    10/76 Novoseek inferred chemical compound relationships for CS gene (see all 76)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    citrate 97.7 1064 8537311 (7), 11850746 (6), 8476125 (5), 11376009 (5) (see all 99)
    succinate 77.9 48 9609810 (2), 1450614 (2), 9192316 (2), 1601786 (1) (see all 41)
    malate 77.6 50 8841108 (2), 16920803 (2), 19825618 (2), 9609810 (2) (see all 35)
    oxaloacetate 76.4 23 2105935 (1), 8011640 (1), 7492547 (1), 10602269 (1) (see all 17)
    lactate 72.6 98 9048318 (2), 10805768 (2), 9973772 (2), 1601786 (1) (see all 82)
    pyruvate 69.5 46 9659176 (3), 8349677 (3), 15098932 (3), 8158120 (2) (see all 29)
    phosphocreatine 67.5 7 12900378 (1), 2356745 (1), 10354207 (1), 2082717 (1) (see all 5)
    glycogen 64.8 39 15184360 (2), 7915652 (1), 9216960 (1), 9270666 (1) (see all 33)
    isocitrate 64.7 8 12442254 (1), 2302181 (1), 19343532 (1), 2338484 (1) (see all 8)
    carnitine 62.8 19 1555541 (2), 8806937 (1), 9270666 (1), 8170674 (1) (see all 15)

    Search CenterWatch for drugs/clinical trials and news about CS / CISY

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CS gene (2 alternative transcripts): 
    NM_004077.2  NM_198324.1  

    Unigene Cluster for CS:

    Citrate synthase
    Hs.743252  [show with all ESTs]
    Unigene Representative Sequence: BX640838
    18/33 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 33):
    ENST00000549143 ENST00000548567(uc001skr.1) ENST00000351328(uc001sks.1 uc010sql.1 uc001skt.1)
    ENST00000548746 ENST00000542324 ENST00000546621(uc010sqm.1) ENST00000546891
    ENST00000546585 ENST00000548849 ENST00000552331 ENST00000549221 ENST00000546930
    ENST00000548041 ENST00000551936 ENST00000550734 ENST00000551253 ENST00000547449
    ENST00000547912
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate CS (see all 45):
    hsa-miR-3130-5p hsa-miR-507 hsa-miR-548l hsa-miR-649 hsa-miR-629 hsa-miR-4330 hsa-miR-23a hsa-miR-365
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CS
    Sirion Biotech Customized lentivirus for stable overexpression of CS 
                         Customized lentivirus expression plasmids for stable overexpression of CS 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CS
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CS
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CS

    Additional mRNA sequence: 

    AF047042.1 AF053631.1 AF147410.1 AK074956.1 AK095856.1 AK293263.1 AK296249.1 AK307625.1 
    BC000105.1 BC010106.1 BC072016.1 BT007414.1 BX640838.1 

    24/62 DOTS entries (see all 62):

    DT.100045177  DT.100830015  DT.75176813  DT.95232204  DT.100830014  DT.121119710  DT.100768849  DT.100830022 
    DT.100830016  DT.100711640  DT.91742259  DT.121119664  DT.100830026  DT.95232184  DT.121119659  DT.121119916 
    DT.95123065  DT.100045176  DT.100045178  DT.121119911  DT.86859560  DT.121471607  DT.92460468  DT.100705186 

    24/224 AceView cDNA sequences (see all 224):

    BU846244 BQ888969 BU146831 BE901274 BE389482 AW848444 AK074956 BU145307 
    AW376614 BM549111 BQ183636 AI424959 AA678156 BQ690855 BX342371 AW752610 
    AW848642 BQ690898 BQ424889 AU280761 AI084039 BE219586 BQ431257 BU173542 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for CS (see all 15)    About this scheme

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

    ExUns: 13c ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for CS

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    CS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/40 selected tissues (see all 40) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   

    See CS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CS

    SOURCE GeneReport for Unigene cluster: Hs.743252
        SABiosciences Expression via Pathway-Focused PCR Arrays including CS: 
              Insulin Resistance in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

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    (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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CS gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cs1 , 5 citrate synthase1, 5 88.65(n)1
    94.4(a)1
      10 (76.53 cM)5
    129741  NM_026444.31  NP_080720.11 
     1283378325 
    chicken
    (Gallus gallus)
    Aves LOC1008589031 citrate synthase, mitochondrial-like 77.39(n)
    91.59(a)
      100858903  XM_003643956.1  XP_003644004.1 
    lizard
    (Anolis carolinensis)
    Reptilia CS6
    Citrate synthase
    87(a)
    1 ↔ 1
    2(93634154-93679731)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046571.12   -- 85.33(n)    BC046571.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb58e042 wufb58e04 78.53(n)   322339  BC045362.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG38613
    kdn1
    citrate (SI)-synthase3
    knockdown1
    73(a)
    (best of 2)3
    66.29(n)1
    73.29(a)1
      315791  NM_132091.21  NP_572319.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T20G5.23
    cts-11
    Citrate synthase3
    Protein CTS-11
    68(a)3
    60.86(n)1
    68.63(a)1
      III(10286717-10288278)3
    1764371  NM_066863.51  NP_499264.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CIT1(YNR001C)4
    CIT21
    Citrate synthase, catalyzes the condensation of acetyl more4
    Cit2p1
    57.74(n)1
    60.41(a)1
      14(631061-629622)4
    8503611  NP_009931.11  8557324 
     NP_014398.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATCS1 citrate synthase 4 61.71(n)
    62.79(a)
      819042  NM_180084.2  NP_850415.1 
    rice
    (Oryza sativa)
    Liliopsida AF302906.12   -- 73.52(n)    AF302906.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CS gene

    CS for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for CS
    PGOHUM00000234537 PGOHUM00000261353 PGOHUM00000259780 PGOHUM00000237710 PGOHUM00000243266


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/539 SNPs in CS are shown (see all 539)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1408512841,2
    --56665292(+) CTTGAA/GGAAGG 1 -- ds50010--------
    rs1508779921,2
    C--56665306(+) GAAAT-/CTCCTCTG 1 -- ds50010--------
    rs1877103661,2
    --56665349(+) AAGGTA/GAAAGA 1 -- ds50010--------
    rs557817261,2
    C--56665539(+) CTCCAC/TCATGA 1 -- ut310--------
    rs1930999961,2
    --56665662(+) GAGTGC/TATCTT 1 -- ut310--------
    rs123141911,2
    C--56665860(+) CAGTAA/CCTGAT 1 -- ut31 ese30--------
    rs1855732671,2
    --56666053(+) TGGAAA/GTAAAA 1 -- ut310--------
    rs1486778221,2
    --56666223(+) GGAAAC/TAGAAC 1 -- ut310--------
    rs569278261,2
    C--56666262(+) AAAAA-/ATCAAA 1 -- ut310--------
    rs1889882461,2
    --56666429(+) CTATCC/TAACAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CS (56665483 - 56694176 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CS:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv482992CNV Complex15286789


    Human Gene Mutation Database (HGMD): CS
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CS
    DNA2.0 Custom Variant and Variant Library Synthesis for CS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 118950    OMIM disorders: --

    20/59 diseases for CS (see all 59):    About MalaCards
    critical illness polyneuropathy    guanidinoacetate methyltransferase deficiency    cat-scratch disease    neuroretinitis
    kennedy's disease    spinal-bulbar muscular atrophy    endocarditis    mitochondrial cardiomyopathy
    poliomyelitis    arterial occlusive disease    neuromuscular disease    spotted fever
    typhus    leber hereditary optic neuropathy    progressive supranuclear palsy    mitochondrial encephalomyopathy
    muscular atrophy    chronic fatigue syndrome    encephalomyopathy    congestive heart failure

    6 diseases from the University of Copenhagen DISEASES database for CS:
    Spotted fever     Typhus     Mitochondrial myopathy     Myopathy
    Heart disease     Diabetes mellitus

    CS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/27 Novoseek inferred disease relationships for CS gene (see all 27)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mitochondrial diseases 58.6 3 16018150 (1), 15925774 (1), 18653097 (1)
    insulin sensitivity 46.3 3 18285554 (1), 10582549 (1), 14602787 (1)
    myopathy 44.8 1 8170674 (1)
    insulin resistance 37 2 15894466 (1), 19864449 (1)
    shock 36.8 9 9029143 (1), 7772873 (1), 19167759 (1), 10411943 (1) (see all 9)
    encephalopathies metabolic 30.9 1 8122033 (1)
    heart failure 25.5 1 11298785 (1)
    hypertrophy 22.9 1 17111003 (1)
    neuromuscular diseases 22.2 2 15925774 (1)
    atrophy 19.5 2 15925774 (2)

    Genetic Association Database (GAD): CS
    Human Genome Epidemiology (HuGE) Navigator: CS (1098 documents)

    Export disorders for CS gene to outside databases

    (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)
    About This Section

    PubMed articles for CS gene, integrated from 9 sources (see all 497):
    (articles sorted by number of sources associating them with CS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and tissue expression pattern analysis of the human citrate synthase cDNA. (PubMed id 12549038)1, 2, 9 Liu Q.... Zhao S.Y. (2000)
    2. Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis. (PubMed id 17298551)1, 4, 9 Bonache S....Larriba S. (2007)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PubMed id 15242332)1, 2 Aboulaich N.... Vener A.V. (2004)
    6. 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. (2004)
    7. Cloning and molecular analysis of the human citrate synthase gene. (PubMed id 9809442)1, 2 Goldenthal M.J.... Ananthakrishnan R. (1998)
    8. Enhanced citrate synthase activity in human pancreatic cancer. (PubMed id 15714131)1, 9 Schlichtholz B....Swierczynski J. (2005)
    9. Human mitochondrial function during cardiac growth and development. (PubMed id 9543345)1, 9 Marin-Garcia J....Goldenthal M.J. (1998)
    10. Identification and characterization of the mitochondr ial targeting sequence and mechanism in human citrate synthase. (PubMed id 19479947)1, 9 Cheng T.L....Chang W.T. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1431 HGNC: 2422 AceView: CS Ensembl:ENSG00000062485 euGenes: HUgn1431
    ECgene: CS Kegg: 1431 H-InvDB: CS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CS Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Citrate_synthase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CS gene:
    Search GeneIP for patents involving CS

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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