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Aliases for CS Gene

Aliases for CS Gene

  • Citrate Synthase 2 3 5
  • EC 2.3.3.1 4 61
  • Citrate (Si)-Synthase 4
  • EC 2.3.3 61

External Ids for CS Gene

Previous GeneCards Identifiers for CS Gene

  • GC12M056540
  • GC12P056603
  • GC12M056382
  • GC12M054951
  • GC12M056666
  • GC12M053704

Summaries for CS Gene

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 Mitochondrial Cardiomyopathy. Among its related pathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Carbon metabolism. GO annotations related to this gene include poly(A) RNA binding and citrate (Si)-synthase activity.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CS Gene

Genomics for CS Gene

Regulatory Elements for CS Gene

Enhancers for CS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G056206 0.8 ENCODE 11.2 +92.9 92913 1.9 HDGF ARID4B ZNF2 ZNF48 RAD21 ZEB1 SCRT2 ZNF143 EGR2 PAF1 SLC39A5 ANKRD52 COQ10A CS ZC3H10 RPL41 RPS26 MYL6B GC12P056196 RNF41
GH12G056204 0.6 ENCODE 11.2 +94.9 94884 1.5 CTCF ZNF740 ZNF341 IKZF1 PRDM10 RAD21 MYC SLC39A5 ANKRD52 COQ10A CS IL23A PAN2 ZC3H10 RPL41 SUOX GC12P056196
GH12G056320 0.6 ENCODE 10.9 -20.7 -20728 1.0 POLR2A SCRT2 CEBPB HMBOX1 ZNF24 CEBPG APOF CS NABP2 RNF41 SLC39A5 CNPY2 PAN2
GH12G056461 0.6 Ensembl 10.6 -161.0 -161009 0.4 FOSL1 ZFP69B GATAD2A JUND HLF ZNF394 TEAD3 GLS2 STAT2 APOF CS SPRYD4 TIMELESS
GH12G056298 1.4 ENCODE dbSUPER 0.7 -0.4 -419 4.6 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ZNF610 NEMP1 BAZ2A ZC3H10 CDK2 RN7SL809P ENSG00000257303 TMEM198B RPL41 RNU6-343P RBMS2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CS on UCSC Golden Path with GeneCards custom track

Promoters for CS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052499 392 1601 HDGF PKNOX1 ARNT AGO1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for CS Gene

Chromosome:
12
Start:
56,271,699 bp from pter
End:
56,300,392 bp from pter
Size:
28,694 bases
Orientation:
Minus strand

Genomic View for CS Gene

Genes around CS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CS Gene

Proteins for CS Gene

  • Protein details for CS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75390-CISY_HUMAN
    Recommended name:
    Citrate synthase, mitochondrial
    Protein Accession:
    O75390
    Secondary Accessions:
    • Q71UT9
    • Q7KZH0
    • Q96FZ8
    • Q9BWN8

    Protein attributes for CS Gene

    Size:
    466 amino acids
    Molecular mass:
    51712 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • Citrate synthase is found in nearly all cells capable of oxidative metabolism.
    SequenceCaution:
    • Sequence=CAE45911.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

neXtProt entry for CS Gene

Selected DME Specific Peptides for CS Gene

O75390:
  • PNVDAHSG
  • GGMRGMKGL
  • RLYLTIH
  • VVPGYGHAVLRK
  • TALNSES
  • DPMFKLV
  • DLIPKEQ
  • IYRNLYR
  • EGIRFRG
  • VVPGYGH
  • ETSVLDP
  • LFWLLVTG
  • SALSDPYL
  • WSRALGFPLERPKSMS
  • YTVLFGV
  • AAKIYRN
  • HSGVLLQY
  • HLVGSALS
  • MDLIAKLP
  • TVLFGVSR
  • GLAGPLHGLANQEVL
  • FGVSRALG
  • VLRKTDPRY
  • RAALPSHVVTML
  • DHEGGNVSAHT
  • LLEQGKAKNPWPNVD
  • GGEEPLPE
  • QREFALKH
  • NFTNMLGY
  • LDWSHNFTNML
  • EPLPEGLFWLL
  • DHEGGNVSAH
  • KYWELIYED
  • SCLVLAARHASASSTNLKD

Post-translational modifications for CS Gene

  • Ubiquitination at Lys103 and isoforms=327
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CS (CS)

Domains & Families for CS Gene

Suggested Antigen Peptide Sequences for CS Gene

Graphical View of Domain Structure for InterPro Entry

O75390

UniProtKB/Swiss-Prot:

CISY_HUMAN :
  • Belongs to the citrate synthase family.
Family:
  • Belongs to the citrate synthase family.
genes like me logo Genes that share domains with CS: view

No data available for Gene Families for CS Gene

Function for CS Gene

Molecular function for CS Gene

GENATLAS Biochemistry:
citrate synthase,mitochondrial,catalyzing the first step of citric acid cycle
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + H(2)O + oxaloacetate = citrate + CoA.

Enzyme Numbers (IUBMB) for CS Gene

Gene Ontology (GO) - Molecular Function for CS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
GO:0004108 citrate (Si)-synthase activity IEA,TAS --
GO:0016740 transferase activity IEA --
GO:0046912 transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer IEA --
genes like me logo Genes that share ontologies with CS: view
genes like me logo Genes that share phenotypes with CS: view

Animal Models for CS Gene

MGI Knock Outs for CS:
  • Cs tm1.1(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for CS

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CS

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CS Gene

Localization for CS Gene

Subcellular locations from UniProtKB/Swiss-Prot for CS Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CS gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytoskeleton 2
peroxisome 2
cytosol 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IDA 20833797
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CS: view

Pathways & Interactions for CS Gene

genes like me logo Genes that share pathways with CS: view

UniProtKB/Swiss-Prot O75390-CISY_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 1/2.

Gene Ontology (GO) - Biological Process for CS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IDA 9543345
GO:0006099 tricarboxylic acid cycle TAS,IEA --
GO:0006101 citrate metabolic process IEA --
genes like me logo Genes that share ontologies with CS: view

No data available for SIGNOR curated interactions for CS Gene

Drugs & Compounds for CS Gene

(40) Drugs for CS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Alpha-Fluoro-Carboxymethyldethia Coenzyme a Complex Experimental Pharma Target 0
Malate Ion Experimental Pharma Target 0
Nitromethyldethia Coenzyme A Experimental Pharma Target 0
Oxaloacetate Ion Experimental Pharma Target 0

(44) Additional Compounds for CS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
Oxalacetic acid
  • 2-Ketosuccinate
  • 2-Ketosuccinic acid
  • 2-Oxobutanedioate
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinate
328-42-7
genes like me logo Genes that share compounds with CS: view

Transcripts for CS Gene

Unigene Clusters for CS Gene

Citrate synthase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CS

Alternative Splicing Database (ASD) splice patterns (SP) for CS Gene

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: - - - - - -
SP6: - - - - - - - -
SP7: - -
SP8: - - - - - - - - - - -
SP9: - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - -
SP13: - - - -
SP14: -
SP15: - - - -

ExUns: 13c ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for CS Gene

GeneLoc Exon Structure for
CS
ECgene alternative splicing isoforms for
CS

Expression for CS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CS Gene

mRNA differential expression in normal tissues according to GTEx for CS Gene

This gene is overexpressed in Heart - Left Ventricle (x4.6) and Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for CS Gene

This gene is overexpressed in Heart (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CS Gene



Protein tissue co-expression partners for CS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CS Gene:

CS

SOURCE GeneReport for Unigene cluster for CS Gene:

Hs.743252

Evidence on tissue expression from TISSUES for CS Gene

  • Nervous system(5)
  • Heart(4.7)
  • Liver(4.7)
  • Muscle(3.9)
  • Lung(3.6)
  • Intestine(3.3)
  • Blood(3)
  • Eye(3)
  • Kidney(3)
  • Skin(3)
  • Pancreas(2.5)
genes like me logo Genes that share expression patterns with CS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CS Gene

Orthologs for CS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CS 34
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia CS 34 35
  • 93.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CS 34 35
  • 92.92 (n)
mouse
(Mus musculus)
Mammalia Csl 35
  • 90 (a)
OneToMany
Cs 34 16 35
  • 88.74 (n)
rat
(Rattus norvegicus)
Mammalia Cs 34
  • 89.45 (n)
chicken
(Gallus gallus)
Aves CS 34 35
  • 77.78 (n)
lizard
(Anolis carolinensis)
Reptilia CS 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cs 34
  • 77.83 (n)
Str.1513 34
zebrafish
(Danio rerio)
Actinopterygii cs 35
  • 88 (a)
OneToOne
LOC100536541 34
  • 77.19 (n)
wufb58e04 34
fruit fly
(Drosophila melanogaster)
Insecta CG3861 36
  • 73 (a)
kdn 34 35
  • 66.29 (n)
CG14740 36
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012048 34
  • 67.56 (n)
worm
(Caenorhabditis elegans)
Secernentea T20G5.2 36
  • 68 (a)
cts-1 34 35
  • 61.78 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CIT2 34 35
  • 57.67 (n)
CIT1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons ATCS 34
  • 61.71 (n)
soybean
(Glycine max)
eudicotyledons Gma.16706 34
rice
(Oryza sativa)
Liliopsida Os02g0194100 34
  • 60.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 70 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5369 34
Species where no ortholog for CS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CS Gene

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

Paralogs for CS Gene

genes like me logo Genes that share paralogs with CS: view

No data available for Paralogs for CS Gene

Variants for CS Gene

Sequence variations from dbSNP and Humsavar for CS Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000006386 -- 56,291,494(+) TAGAC(-/AGG)AGGAG intron-variant
rs1000066329 -- 56,283,441(+) GGTTT(C/T)GCCGT intron-variant
rs1000131674 -- 56,276,382(+) AATAA(C/T)TATTA intron-variant
rs1000322159 -- 56,290,768(+) CCAAA(A/G)GAAAA intron-variant
rs1000330693 -- 56,296,926(+) TAAAA(C/T)CTAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CS Gene

Variant ID Type Subtype PubMed ID
nsv482992 CNV gain+loss 15286789

Variation tolerance for CS Gene

Residual Variation Intolerance Score: 59.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CS Gene

Human Gene Mutation Database (HGMD)
CS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CS Gene

Disorders for CS Gene

MalaCards: The human disease database

(10) MalaCards diseases for CS Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
critical illness polyneuropathy
  • polyneuropathy, critical illness
mitochondrial cardiomyopathy
  • cardiomyopathy, maternally transmitted
cat-scratch disease
  • oroya fever
cerebral creatine deficiency syndrome 2
  • guanidinoacetate methyltransferase deficiency
cerebral creatine deficiency syndrome
  • cerebral creatine deficiency syndromes
- elite association - COSMIC cancer census association via MalaCards
Search CS in MalaCards View complete list of genes associated with diseases

Relevant External Links for CS

Genetic Association Database (GAD)
CS
Human Genome Epidemiology (HuGE) Navigator
CS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CS
genes like me logo Genes that share disorders with CS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CS Gene

Publications for CS Gene

  1. Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis. (PMID: 17298551) Bonache S. … Larriba S. (Int. J. Androl. 2007) 3 22 46 64
  2. Cloning and tissue expression pattern analysis of the human citrate synthase cDNA. (PMID: 12549038) Liu Q. … Zhao S.Y. (Shi Yan Sheng Wu Xue Bao 2000) 3 4 22 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Identification and characterization of the mitochondrial targeting sequence and mechanism in human citrate synthase. (PMID: 19479947) Cheng T.L. … Chang W.T. (J. Cell. Biochem. 2009) 3 22 64
  5. Enhanced citrate synthase activity in human pancreatic cancer. (PMID: 15714131) Schlichtholz B. … Swierczynski J. (Pancreas 2005) 3 22 64

Products for CS Gene

Sources for CS Gene

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