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    CS citrate synthase [ Homo sapiens (human) ]

    Gene ID: 1431, updated on 7-Oct-2018

    Summary

    Official Symbol
    CSprovided by HGNC
    Official Full Name
    citrate synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:2422
    See related
    Ensembl:ENSG00000062485 MIM:118950; Vega:OTTHUMG00000170344
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 124.5), fat (RPKM 107.9) and 25 other tissues See more
    Orthologs

    Genomic context

    Location:
    12q13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (56271699..56300391, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56665483..56694175, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 39 member 5 Neighboring gene ankyrin repeat domain 52 Neighboring gene coenzyme Q10A Neighboring gene uncharacterized LOC112268098 Neighboring gene canopy FGF signaling regulator 2 Neighboring gene poly(A) specific ribonuclease subunit PAN2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study in Han Chinese identifies three novel loci for human height.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    citrate (Si)-synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    citrate (Si)-synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    citrate (Si)-synthase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    carbohydrate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    carbohydrate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    tricarboxylic acid cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion HDA PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nucleus HDA PubMed 

    General protein information

    Preferred Names
    citrate synthase, mitochondrial
    Names
    citrate (Si)-synthase
    NP_004068.2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004077.2NP_004068.2  citrate synthase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_004068.2

      Status: REVIEWED

      Source sequence(s)
      AK074956, BC000105, BX640838, CB990178
      Consensus CDS
      CCDS8913.1
      UniProtKB/Swiss-Prot
      O75390
      UniProtKB/TrEMBL
      A0A024RB75
      Related
      ENSP00000342056.3, OTTHUMP00000243530, ENST00000351328.7, OTTHUMT00000408588
      Conserved Domains (1) summary
      cd06105
      Location:33459
      ScCit1-2_like; Saccharomyces cerevisiae (Sc) citrate synthases Cit1-2_like. Citrate synthases (CS) catalyzes the condensation of acetyl coenzyme A (AcCoA) with oxaloacetate (OAA) to form citrate and coenzyme A (CoA), the first step in the citric acid cycle (TCA or ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      56271699..56300391 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198324.1: Suppressed sequence

      Description
      NM_198324.1: This RefSeq was permanently suppressed because if the correct translation start site is used, it is a nonsense-mediated mRNA decay (NMD) candidate.
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