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

    Gene ID: 1040, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See CDS1 in Genome Data Viewer
    Location:
    4q21.23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (84583127..84651334)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (87913124..87981319)
    RS_2024_09 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 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. Cloning of CDP-diacylglycerol synthase from a human neuronal cell line. Heacock AM, et al. J Neurochem, 1996 Nov. PMID 8863531
    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. Isolation and chromosomal localization of two human CDP-diacylglycerol synthase (CDS) genes. Halford S, et al. Genomics, 1998 Nov 15. PMID 9806839
    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 (28) 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_2024_08

    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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