Cs citrate synthase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Csprovided by MGI
Official Full Name: citrate synthaseprovided by MGI
Primary source: MGI:MGI:88529
See related: Ensembl:ENSMUSG00000005683 AllianceGenome:MGI:88529
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cis; Ahl4; 2610511A05Rik; 9030605P22Rik
Summary: The protein encoded by this gene is a central metabolic pathway enzyme, catalyzing the first step of the tricarboxylic acid cycle in which acetyl coenzyme A and oxaloacetate are converted to citrate and coenzyme A. This enzyme is found in nearly all cells capable of oxidative metabolism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2016]
Expression: Ubiquitous expression in heart adult (RPKM 476.6), large intestine adult (RPKM 212.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 D3; 10 76.53 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (128173596..128198351)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (128337727..128362482)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

H55 N variation in citrate synthase leads to decrement in the enzyme activity and transport rate to mitochondria in HEI-OC1 cells.
Title: H55 N variation in citrate synthase leads to decrement in the enzyme activity and transport rate to mitochondria in HEI-OC1 cells.
Extra-mitochondrial citrate synthase initiates calcium oscillation and suppresses age-dependent sperm dysfunction.
Title: Extra-mitochondrial citrate synthase initiates calcium oscillation and suppresses age-dependent sperm dysfunction.
The CS activity decreased in the infarcted tissue of wild-type (WT) mice at day 1 post-MI (p<0.05), but this was not observed in the MMP-9 null mice, suggesting that MMP-9 deletion helps to maintain the mitochondrial activity post-MI
Title: Citrate synthase is a novel in vivo matrix metalloproteinase-9 substrate that regulates mitochondrial function in the postmyocardial infarction left ventricle.
Multiple lines of evidence implicate this missense mutation (H55N) as the underlying cause of ahl4-related hearing loss, likely through its effects on mitochondrial adenosine trisphosphate (ATP) and free radical production in cochlear hair cells.
Title: Association of a citrate synthase missense mutation with age-related hearing loss in A/J mice.
H55N polymorphism in Cs could be the underlying cause of low CS activity and its high affinity for substrates in A/J mice compared with other strains.
Title: H55N polymorphism as a likely cause of variation in citrate synthase activity of mouse skeletal muscle.
A high-fat diet increases adiposity but maintains mitochondrial oxidative enzymes without affecting development of heart failure with pressure overload.
Title: A high-fat diet increases adiposity but maintains mitochondrial oxidative enzymes without affecting development of heart failure with pressure overload.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1)
Spontaneous (1) 1 citation
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-12459 (e-PCR)
- UniSTS:28220

Cs (e-PCR), detects polymorphism
- UniSTS:506823

RH128613 (e-PCR)
- UniSTS:211921

BB234005 (e-PCR)
- UniSTS:185855

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acyltransferase activity, acyl groups converted into alkyl on transfer	IDA Inferred from Direct Assay more info	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
enables citrate (Si)-synthase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables citrate (Si)-synthase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables citrate (Si)-synthase activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in acetyl-CoA metabolic process	ISO Inferred from Sequence Orthology more info
involved_in carbohydrate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in carbohydrate metabolic process	ISO Inferred from Sequence Orthology more info
involved_in carbohydrate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in citrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in citrate metabolic process	ISO Inferred from Sequence Orthology more info
involved_in oxaloacetate metabolic process	ISO Inferred from Sequence Orthology 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
involved_in tricarboxylic acid cycle	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info
located_in mitochondrial matrix	ISO Inferred from Sequence Orthology more info
located_in mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: citrate synthase, mitochondrial

Names: citrate (Si)-synthase

NP_080720.1

EC 2.3.3.1

XP_030100721.1

EC 2.3.3.1

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)

NM_026444.4 → NP_080720.1 citrate synthase, mitochondrial precursor

See identical proteins and their annotated locations for NP_080720.1

Status: REVIEWED

Source sequence(s)

AC090489, BU700437, CJ144772

Consensus CDS

CCDS24273.1

UniProtKB/Swiss-Prot

Q3UDP3, Q9CZU6

UniProtKB/TrEMBL

Q9DAM4

Related

ENSMUSP00000005826.8, ENSMUST00000005826.9

Conserved Domains (2) summary

cd06105
Location:33 → 459

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 ...

PLN02456
Location:29 → 454

PLN02456; citrate synthase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

128173596..128198351

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030244861.1 → XP_030100721.1 citrate synthase, mitochondrial isoform X1

UniProtKB/TrEMBL

Q9DAM4

Conserved Domains (1) summary

cd06105
Location:1 → 393

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 ...