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CS Gene

protein-coding   GIFtS: 67
GCID: GC12M056666

Citrate Synthase

  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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for CS gene to outside databases

Previous GC identifers: GC12M056540 GC12P056603 GC12M056382 GC12M054951 GC12M053704


(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 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 cat-scratch disease. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for CS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Ubiquitination2 at Lys43, Lys103, Lys327, Lys382, Lys459
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CS (O75390) (see all 34)
     RLYLTIH  TALNSES  DPMFKLV  DLIPKEQ 


    See CS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    CS Human Recombinant Protein Products:

    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

    CS Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CS
    Browse R&D Systems for Antibodies
    OriGene Antibodies for CS
    OriGene Custom Antibody Services for CS
    Novus Biologicals CS Antibodies
    Abcam antibodies for CS
    Cloud-Clone Corp. Antibodies for CS
    ThermoFisher Antibody for CS
    LSBio Antibodies in human, mouse, rat for CS

    CS Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CS
    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)
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    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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004108citrate (Si)-synthase activity TAS--
    GO:0044822poly(A) RNA binding IDA--
    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: Let us create your new Knockout/Knockin mouse model for CS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target CS:
    hsa-mir-324-5p (MIRT043140), hsa-let-7a-3p (MIRT039003), hsa-mir-183-5p (MIRT047152), hsa-mir-193b-3p (MIRT041479), hsa-let-7b-5p (MIRT032306), hsa-let-7a-5p (MIRT052406), hsa-mir-28-5p (MIRT050008)

    Block miRNA regulation of human, mouse, rat CS using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for CS
    Predesigned siRNA for gene silencing in human, mouse, rat CS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CS

    Clone
    Products:
         
    OriGene clones in human, mouse for CS (see all 11)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CS
    Browse ESI BIO Cell Lines and PureStem Progenitors for CS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CS


    (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
    CISY_HUMAN, O75390: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    nucleus2
    peroxisome2
    plasma membrane2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0070062extracellular vesicular exosome IDA--

    CS for ontologies           About GeneDecksing


    (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 CS About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.55
    conversion of glucose to acetyl CoA and entry into the TCA cycle0.43
    Citrate cycle (TCA cycle)0.55
    TCA Cycle0.00
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    TCA cycle0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Carbon metabolism
    Carbon metabolism0.38
    2-Oxocarboxylic acid metabolism0.00
    Biosynthesis of amino acids0.38
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30

    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


    2 Reactome Pathways for CS
        Mitochondrial protein import
    Citric acid cycle (TCA cycle)


    Selected 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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for CS

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

    Selected Interacting proteins for CS (O753902, 3 ENSP000003420564) via UniProtKB, MINT, STRING, and/or I2D (see all 130)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAB2Q9NYJ82, 3, ENSP000002863324MINT-48028 MINT-49210 I2D: score=3 STRING: ENSP00000286332
    DYNLL1P631673, ENSP000002425774I2D: score=3 STRING: ENSP00000242577
    CRYAAP024893, ENSP000002915544I2D: score=2 STRING: ENSP00000291554
    CHMP243863, ENSP000003503864I2D: score=1 STRING: ENSP00000350386
    IDH3GP515533, ENSP000002179014I2D: score=1 STRING: ENSP00000217901
    About this table

    Gene Ontology (GO): 5 biological process terms:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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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 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

    Selected 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)



    CS for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CS gene (2 alternative transcripts): 
    NM_004077.2  NM_198324.1  

    Selected 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
    miRNA
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    Block miRNA regulation of human, mouse, rat CS using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for CS
    Predesigned siRNA for gene silencing in human, mouse, rat CS
    Clone
    Products:
         
    OriGene clones in human, mouse for CS (see all 11)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CS
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CS
    OriGene qSTAR qPCR primer pairs in human, mouse for CS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CS
      QuantiTect SYBR Green Assays in human, mouse, rat CS
      QuantiFast Probe-based Assays in human, mouse, rat CS

    Selected AceView cDNA sequences (see all 224):

    BE253415 BU145652 BU155685 AV709452 AA678156 BU180517 CD107685 BM543144 
    BQ685746 AI288613 BQ670160 BU625615 AW849155 BQ685549 BM549111 AW752624 
    AW402446 BE901274 BQ883633 AI376084 CO246163 BM743857 BU846244 BQ691200 

    GeneLoc Exon Structure

    Selected 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™, 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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    CS expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Dental pulp stem cells
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    CS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CS Protein Expression
        Pathway & Disease-focused RT2 Profiler 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

    Primer
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    OriGene qPCR primer pairs and template standards for CS
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CS gene from Selected 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 88.74(n)1
    94.48(a)1
      10 (76.53 cM)5
    129741  NM_026444.31  NP_080720.11 
     1283378325 
    chicken
    (Gallus gallus)
    Aves CS1 citrate synthase 77.78(n)
    92.04(a)
      100858903  XM_003643956.2  XP_003644004.2 
    lizard
    (Anolis carolinensis)
    Reptilia CS6
    citrate synthase
    88(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
    cts-11
    68(a)3
    61.78(n)1
    69.53(a)1
      III(10286717-10288278)3
    1764371  NM_066863.61  NP_499264.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CIT1(YNR001C)4
    CIT21
    Citrate synthase, catalyzes the condensation of acetyl more4
    CIT21
    57.67(n)1
    60.41(a)1
      14(631061-629622)4
    8503611  NP_009931.11  8557324 
     NP_014398.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATCS1 ATCS 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)
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    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), 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 CS (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 118950    OMIM disorders: --

    Selected diseases for CS (see all 64):    
    About MalaCards
    critical illness polyneuropathy    cat-scratch disease    guanidinoacetate methyltransferase deficiency    neuroretinitis
    kennedy's disease    mitochondrial cardiomyopathy    spinal-bulbar muscular atrophy    endocarditis
    poliomyelitis    neuromuscular disease    spotted fever    leber hereditary optic neuropathy
    progressive supranuclear palsy    typhus    mitochondrial encephalomyopathy    chronic fatigue syndrome
    encephalomyopathy    congestive heart failure    polyneuropathy    pharyngitis

    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

    Selected 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)
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    PubMed articles for CS gene, integrated from 10 sources (see all 496):
    (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. (Shi Yan Sheng Wu Xue Bao 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. (Int. J. Androl. 2007)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    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. 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. (Biochem. J. 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. (Genome Res. 2004)
    7. Cloning and molecular analysis of the human citrate synthase gene. (PubMed id 9809442)1, 2 Goldenthal M.J.... Ananthakrishnan R. (Genome 1998)
    8. Enhanced citrate synthase activity in human pancreatic cancer. (PubMed id 15714131)1, 9 Schlichtholz B....Swierczynski J. (Pancreas 2005)
    9. Human mitochondrial function during cardiac growth and development. (PubMed id 9543345)1, 9 Marin-Garcia J....Goldenthal M.J. (Mol. Cell. Biochem. 1998)
    10. Identification and characterization of the mitochondrial targeting sequence and mechanism in human citrate synthase. (PubMed id 19479947)1, 9 Cheng T.L....Chang W.T. (J. Cell. Biochem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1431 HGNC: 2422 AceView: CS Ensembl:ENSG00000062485 euGenes: HUgn1431
    ECgene: CS Kegg: 1431 H-InvDB: CS

    (According to HUGE)
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      --

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