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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 Bartonellosis. Among its related pathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Transport to the Golgi and subsequent modification. GO annotations related to this gene include poly(A) RNA binding and citrate (Si)-synthase activity.

No data available for 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
- Elite enhancer/Elite enhancer-gene association

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

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

Post-translational modifications for CS Gene

  • Ubiquitination at Lys 103 and Lys 327
  • Modification sites at PhosphoSitePlus

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:0004108 citrate (Si)-synthase activity TAS --
GO:0044822 poly(A) RNA binding IDA 22681889
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for CS Gene COMPARTMENTS Subcellular localization image for CS gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 2
peroxisome 2
cytoskeleton 1
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:0070062 extracellular exosome IDA 20458337
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 --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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
genes like me logo Genes that share expression patterns with CS: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia CS 34
  • 92.92 (n)
  • 95.71 (a)
CS 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CS 34
  • 93.28 (n)
  • 96.78 (a)
CS 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cs 34
  • 88.74 (n)
  • 94.48 (a)
Cs 16
Cs 35
  • 94 (a)
OneToMany
Csl 35
  • 90 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia CS 34
  • 99.57 (n)
  • 99.79 (a)
rat
(Rattus norvegicus)
Mammalia Cs 34
  • 89.45 (n)
  • 94.51 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
chicken
(Gallus gallus)
Aves CS 34
  • 77.78 (n)
  • 92.04 (a)
CS 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CS 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cs 34
  • 77.83 (n)
  • 90.53 (a)
Str.1513 34
zebrafish
(Danio rerio)
Actinopterygii LOC100536541 34
  • 77.19 (n)
  • 89.4 (a)
wufb58e04 34
cs 35
  • 88 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14740 36
  • 54 (a)
CG3861 36
  • 73 (a)
kdn 34
  • 66.29 (n)
  • 73.29 (a)
kdn 35
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012048 34
  • 67.56 (n)
  • 74.55 (a)
worm
(Caenorhabditis elegans)
Secernentea T20G5.2 36
  • 68 (a)
cts-1 34
  • 61.78 (n)
  • 69.53 (a)
cts-1 35
  • 67 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CIT2 34
  • 57.67 (n)
  • 60.41 (a)
CIT2 35
  • 58 (a)
OneToOne
CIT1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons ATCS 34
  • 61.71 (n)
  • 62.79 (a)
soybean
(Glycine max)
eudicotyledons Gma.16706 34
rice
(Oryza sativa)
Liliopsida Os02g0194100 34
  • 60.47 (n)
  • 62.56 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5369 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 70 (a)
OneToOne
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
rs7300931 -- 56,278,685(+) tgagc(C/T)gaggt intron-variant
rs1802236 -- 56,285,967(-) AAGAC(C/T)TTCAG reference, synonymous-codon
rs1802237 -- 56,285,957(-) GGCAG(C/G)AACAT reference, missense
rs7309201 -- 56,280,440(+) aaaca(A/C)aaaaa intron-variant
rs11171787 -- 56,272,452(+) TCCCA(C/G)ACCTT utr-variant-3-prime

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

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

Disorder Aliases PubMed IDs
critical illness polyneuropathy
  • polyneuropathy, critical illness
bartonellosis
  • bartonella infectious disease
cat-scratch disease
  • oroya fever
mitochondrial cardiomyopathy
  • cardiomyopathy, maternally transmitted
cerebral creatine deficiency syndrome 2
  • guanidinoacetate methyltransferase deficiency
- 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 65
  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 65
  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 65
  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 65
  5. Enhanced citrate synthase activity in human pancreatic cancer. (PMID: 15714131) Schlichtholz B. … Swierczynski J. (Pancreas 2005) 3 22 65

Products for CS Gene

Sources for CS Gene

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