• Gene id: 1040

Gene Summary

• Gene Symbol: CDS1   Gene   UCSC   Ensembl
• Aliases: CDS 1
• Gene name: CDP-diacylglycerol synthase 1
• Alternate names: phosphatidate cytidylyltransferase 1, CDP-DAG synthase 1, CDP-DG synthase 1, CDP-DG synthetase 1, CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1, CDP-diglyceride pyrophosphorylase 1, CDP-diglyceride synthase 1, CDP-diglyceride synthetase 1, CT,
• Gene location: 4q21.23 (84582930: 84651333)     Exons: 13     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 603548

SNPs

rs7946

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.17506246C>T
NC_000017.10   g.17409560C>T
XM_006721418.4   c.571G>A
NM_148172.3   c.634G>A
NM_148172.2   c.634G>A
NM_007169.2   c.523G>A
NM_007169.3   c.523G>A
NM_001267552.1   c.665G>A
NM_001267552.2   c.665G>A
NM_001267551.1   c.568G>A
NM_001267551.2   c

Protein Summary

• Protein general information: Q92903  
  • 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)
  • Length: 461  
  • Mass: 53304
  • 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
• Sequence:

  MLELRHRGSCPGPREAVSPPHREGEAAGGDHETESTSDKETDIDDRYGDLDSRTDSDIPEIPPSSDRTPEILKKA
  LSGLSSRWKNWWIRGILTLTMISLFFLIIYMGSFMLMLLVLGIQVKCFHEIITIGYRVYHSYDLPWFRTLSWYFL
  LCVNYFFYGETVADYFATFVQREEQLQFLIRYHRFISFALYLAGFCMFVLSLVKKHYRLQFYMFAWTHVTLLITV
  TQSHLVIQNLFEGMIWFLVPISSVICNDITAYLFGFFFGRTPLIKLSPKKTWEGFIGGFFSTVVFGFIAAYVLSK
  YQYFVCPVEYRSDVNSFVTECEPSELFQLQTYSLPPFLKAVLRQERVSLYPFQIHSIALSTFASLIGPFGGFFAS
  GFKRAFKIKDFANTIPGHGGIMDRFDCQYLMATFVHVYITSFIRGPNPSKVLQQLLVLQPEQQLNIYKTLKTHLI
  EKGILQPTLKV

• Structural information:
  • Interpro: IPR000374  IPR016720  
  • Prosite: PS01315
  • STRING: ENSP00000295887
• Other Databases: GeneCards:  CDS1  Malacards:  CDS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0004605	phosphatidate cytidylyltransferase activity	IEA	molecular function
GO:0004605	phosphatidate cytidylyltransferase activity	IDA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0045600	positive regulation of fat cell differentiation	IEA	biological process
GO:0004605	phosphatidate cytidylyltransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0140042	lipid droplet formation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006657	CDP-choline pathway	IEA	biological process
GO:0016024	CDP-diacylglycerol biosynthetic process	IEA	biological process
GO:0006661	phosphatidylinositol biosynthetic process	IDA	biological process
GO:0016024	CDP-diacylglycerol biosynthetic process	IDA	biological process
GO:0004605	phosphatidate cytidylyltransferase activity	IDA	molecular function
GO:0004142	diacylglycerol cholinephosphotransferase activity	NAS	molecular function
GO:0007165	signal transduction	NAS	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0007602	phototransduction	NAS	biological process
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016024	CDP-diacylglycerol biosynthetic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0004605	phosphatidate cytidylyltransferase activity	IDA	molecular function
GO:0045600	positive regulation of fat cell differentiation	ISS	biological process
GO:0016021	integral component of membrane	ISS	cellular component
GO:0140042	lipid droplet formation	IMP	biological process
GO:0140042	lipid droplet formation	IMP	biological process
GO:0004605	phosphatidate cytidylyltransferase activity	IEA	molecular function
GO:0016772	transferase activity, transferring phosphorus-containing groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881