Gene Gene information from NCBI Gene database.
Entrez ID 1040
Gene name CDP-diacylglycerol synthase 1
Gene symbol CDS1
Synonyms (NCBI Gene)
CDS 1
Chromosome 4
Chromosome location 4q21.23
Summary 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 enzy
miRNA miRNA information provided by mirtarbase database.
378
miRTarBase ID miRNA Experiments Reference
MIRT019089 hsa-miR-335-5p Microarray 18185580
MIRT043107 hsa-miR-324-5p CLASH 23622248
MIRT437688 hsa-miR-223-3p MicroarrayqRT-PCR 22815788
MIRT882270 hsa-miR-1237 CLIP-seq
MIRT882271 hsa-miR-124 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0004142 Function Diacylglycerol cholinephosphotransferase activity NAS 9115637
GO:0004605 Function Phosphatidate cytidylyltransferase activity IDA 8863531, 9407135, 25375833
GO:0004605 Function Phosphatidate cytidylyltransferase activity IEA
GO:0005515 Function Protein binding IPI 32296183, 33961781, 35271311
GO:0005783 Component Endoplasmic reticulum IDA 25375833, 26946540, 31548309
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603548 1800 ENSG00000163624
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92903
Protein name Phosphatidate cytidylyltransferase 1 (EC 2.7.7.41) (CDP-DAG synthase 1) (CDP-DG synthase 1) (CDP-diacylglycerol synthase 1) (CDS 1) (CDP-diglyceride pyrophosphorylase 1) (CDP-diglyceride synthase 1) (CTP:phosphatidate cytidylyltransferase 1)
Protein function Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol (PubMed:25375833, PubMed:9407135). Exhibits almost no ac
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01148 CTP_transf_1 87 417 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in adult tissues such as placenta, brain, small intestine, ovary, testis and prostate. Highly expressed in fetal kidney, lung and brain. Lower level in fetal liver. {ECO:0000269|PubMed:9407135}.
Sequence
Sequence length 461
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerophospholipid metabolism
Metabolic pathways
Phosphatidylinositol signaling system
  Synthesis of PI
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CDS1-related disorder Uncertain significance; Likely benign; Benign rs139701286, rs2530037314, rs34695122, rs568659831, rs376285323, rs199711328, rs748866234, rs148659910, rs118099717, rs372703799, rs761209404 RCV003963723
RCV003397378
RCV003974259
RCV003931468
RCV003961354
RCV003936949
RCV003937034
RCV003951506
RCV003932277
RCV003954612
RCV003947260
Cervical cancer Likely benign rs528617646 RCV005903506
Familial cancer of breast Likely benign rs528617646 RCV005903505
Gastric cancer Benign rs376285323 RCV005933326
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Telangiectasia Associate 9889122
Carcinoma Non Small Cell Lung Associate 20980099
Colorectal Neoplasms Associate 33378017
Neoplasm Metastasis Associate 33378017