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Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]
CDS1 (CDP-Diacylglycerol Synthase 1) is a Protein Coding gene. Diseases associated with CDS1 include Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability. Among its related pathways are Inositol phosphate metabolism (KEGG) and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and phosphatidate cytidylyltransferase activity. An important paralog of this gene is CDS2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004142 | diacylglycerol cholinephosphotransferase activity | NAS | 9115637 |
GO:0004605 | phosphatidate cytidylyltransferase activity | IDA | 8863531 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016772 | transferase activity, transferring phosphorus-containing groups | IEA | -- |
GO:0016779 | nucleotidyltransferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | ISS | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis |
.01
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2 | Metabolism |
.40
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3 | Inositol phosphate metabolism (KEGG) | ||
4 | triacylglycerol biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006657 | CDP-choline pathway | IEA | -- |
GO:0006661 | phosphatidylinositol biosynthetic process | IDA,TAS | -- |
GO:0007165 | signal transduction | NAS | 9115637 |
GO:0007602 | phototransduction | NAS | 9806839 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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CDP-DG(16:0/16:0) |
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CDP-DG(16:0/18:0) |
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CDP-DG(16:0/18:1(11Z)) |
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CDP-DG(16:0/18:1(9Z)) |
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CDP-DG(16:0/18:2(9Z,12Z)) |
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ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
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SP1: | |||||||||||||||||||||||||||
SP2: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CDS1 30 31 |
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OneToOne | |
Dog (Canis familiaris) |
Mammalia | CDS1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CDS1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CDS1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CDS1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cds1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cds1 30 |
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Chicken (Gallus gallus) |
Aves | CDS1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CDS1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cds1 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | cds1 30 31 |
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OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007175 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CdsA 30 31 32 |
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OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | C33H5.18 30 |
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C33H5.18a 32 |
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C33H5.18b 32 |
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cdgs-1 31 |
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OneToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL084W 30 |
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K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F24640g 30 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CDS1 30 31 33 |
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OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G26770 30 |
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Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.11292 30 |
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Rice (Oryza sativa) |
Liliopsida | Os01g0758400 30 |
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Os.15356 30 |
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Barley (Hordeum vulgare) |
Liliopsida | Hv.4226 30 |
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Wheat (Triticum aestivum) |
Liliopsida | Ta.6386 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
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OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC13A2.03 30 |
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Bread mold (Neurospora crassa) |
Ascomycetes | NCU09643 30 |
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SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
775994 | Likely Benign: not provided | 84,635,256(+) | A/T | INTRON_VARIANT | |
VAR_036129 | A breast cancer sample | p.Lys204Thr | |||
rs36068434 | - | p.Leu99Phe |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2727911 | CNV | deletion | 23290073 |
esv3569548 | CNV | loss | 25503493 |
esv3601225 | CNV | loss | 21293372 |
nsv4406 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
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muscular dystrophy, congenital, with cataracts and intellectual disability |
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