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CDS1 CDP-diacylglycerol synthase 1 [ Homo sapiens (human) ]

Gene ID: 1040, updated on 5-Mar-2024

Summary

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Official Symbol
CDS1provided by HGNC
Official Full Name
CDP-diacylglycerol synthase 1provided by HGNC
Primary source
HGNC:HGNC:1800
See related
Ensembl:ENSG00000163624 MIM:603548; AllianceGenome:HGNC:1800
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
Also known as
CDS 1
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 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]
Expression
Broad expression in duodenum (RPKM 20.9), thyroid (RPKM 19.8) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
4q21.23
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (84583127..84651334)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (87913124..87981319)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (85504280..85572487)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:85413525-85414416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:85416773-85417273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15545 Neighboring gene uncharacterized LOC102723338 Neighboring gene NK6 homeobox 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:85486943-85487584 Neighboring gene ribosomal protein L3 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:85504073-85505026 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:85517394-85518371 Neighboring gene Sharpr-MPRA regulatory region 8979 Neighboring gene uncharacterized LOC124900854 Neighboring gene RNA, 7SL, cytoplasmic 552, pseudogene Neighboring gene WD repeat and FYVE domain containing 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Isolation and chromosomal localization of two human CDP-diacylglycerol synthase (CDS) genes. Halford S, et al. Genomics, 1998 Nov 15. PMID 9806839
  2. Isolation and expression of an isoform of human CDP-diacylglycerol synthase cDNA. Weeks R, et al. DNA Cell Biol, 1997 Mar. PMID 9115637
  3. Cloning of CDP-diacylglycerol synthase from a human neuronal cell line. Heacock AM, et al. J Neurochem, 1996 Nov. PMID 8863531
  4. CDP-DAG synthase 1 and 2 regulate lipid droplet growth through distinct mechanisms. Xu Y, et al. J Biol Chem, 2019 Nov 8. PMID 31548309, Free PMC Article
  5. Distinct properties of the two isoforms of CDP-diacylglycerol synthase. D'Souza K, et al. Biochemistry, 2014 Dec 2. PMID 25375833, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CDP-DAG synthase 1 and 2 regulate lipid droplet growth through distinct mechanisms
    Title: CDP-DAG synthase 1 and 2 regulate lipid droplet growth through distinct mechanisms.
  2. CDS1 and CDS2 are important novel regulators of lipid storage.
    Title: CDP-diacylglycerol synthases regulate the growth of lipid droplets and adipocyte development.
  3. distinct properties of the two isoforms of CDP-diacylglycerol synthase
    Title: Distinct properties of the two isoforms of CDP-diacylglycerol synthase.
  4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables diacylglycerol cholinephosphotransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables phosphatidate cytidylyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in CDP-choline pathway IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within CDP-diacylglycerol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in CDP-diacylglycerol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in CDP-diacylglycerol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid droplet formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phosphatidylinositol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phototransduction NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
phosphatidate cytidylyltransferase 1
Names
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
CTP:phosphatidate cytidylyltransferase 1
NP_001254.2
XP_005262744.1
XP_016863137.1
XP_016863138.1
XP_016863139.1
XP_016863140.1
XP_054204719.1
XP_054204720.1
XP_054204721.1
XP_054204722.1
XP_054204723.1

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)

  1. NM_001263.4 → NP_001254.2  phosphatidate cytidylyltransferase 1

    See identical proteins and their annotated locations for NP_001254.2

    Status: REVIEWED

    Source sequence(s)
    AK026697, BE504303, CA313675, DN915398, U60808, U65887
    Consensus CDS
    CCDS3608.1
    UniProtKB/Swiss-Prot
    B2RAL5, O00163, Q92903
    Related
    ENSP00000295887.5, ENST00000295887.6
    Conserved Domains (1) summary
    cl21502
    Location:123 → 457
    CTP_transf_1; Cytidylyltransferase family

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    84583127..84651334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262687.4 → XP_005262744.1  phosphatidate cytidylyltransferase 1 isoform X2

    Conserved Domains (1) summary
    cl21502
    Location:123 → 417
    CTP_transf_1; Cytidylyltransferase family

  2. XM_017007650.3 → XP_016863139.1  phosphatidate cytidylyltransferase 1 isoform X4

  3. XM_017007648.3 → XP_016863137.1  phosphatidate cytidylyltransferase 1 isoform X1

  4. XM_017007649.3 → XP_016863138.1  phosphatidate cytidylyltransferase 1 isoform X3

  5. XM_017007651.3 → XP_016863140.1  phosphatidate cytidylyltransferase 1 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    87913124..87981319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348745.1 → XP_054204720.1  phosphatidate cytidylyltransferase 1 isoform X2

  2. XM_054348747.1 → XP_054204722.1  phosphatidate cytidylyltransferase 1 isoform X4

  3. XM_054348744.1 → XP_054204719.1  phosphatidate cytidylyltransferase 1 isoform X1

  4. XM_054348746.1 → XP_054204721.1  phosphatidate cytidylyltransferase 1 isoform X3

  5. XM_054348748.1 → XP_054204723.1  phosphatidate cytidylyltransferase 1 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92903.2 GenPept UniProtKB/Swiss-Prot:Q92903

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