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CS citrate synthase [ Homo sapiens (human) ]

Gene ID: 1431, updated on 4-Mar-2024

Summary

Official Symbol
CSprovided by HGNC
Official Full Name
citrate synthaseprovided by HGNC
Primary source
HGNC:HGNC:2422
See related
Ensembl:ENSG00000062485 MIM:118950; AllianceGenome:HGNC:2422
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
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Genomic context

Location:
12q13.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56271699..56300330, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56239343..56267970, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56665483..56694114, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 39 member 5 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29670 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29671 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29672 Neighboring gene ankyrin repeat domain 52 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56650178-56651170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4554 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29674 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6485 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56660797-56661296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6486 Neighboring gene Sharpr-MPRA regulatory region 15563 Neighboring gene coenzyme Q10A Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56693295-56693812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4557 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6488 Neighboring gene MPRA-validated peak1741 silencer Neighboring gene CNPY2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56709757-56710345 Neighboring gene canopy FGF signaling regulator 2 Neighboring gene MPRA-validated peak1742 silencer Neighboring gene poly(A) specific ribonuclease subunit PAN2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29684

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables citrate (Si)-synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables citrate (Si)-synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in carbohydrate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in citrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in tricarboxylic acid cycle IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_004077.3NP_004068.2  citrate synthase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_004068.2

    Status: REVIEWED

    Source sequence(s)
    AK074956, BC000105, CB990178
    Consensus CDS
    CCDS8913.1
    UniProtKB/Swiss-Prot
    O75390, Q71UT9, Q7KZH0, Q96FZ8, Q9BWN8
    UniProtKB/TrEMBL
    B4DJV2
    Related
    ENSP00000342056.3, ENST00000351328.8
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    56271699..56300330 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    56239343..56267970 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.