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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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