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

Gene ID: 1040, updated on 3-Nov-2024

Summary

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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

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_001263.4NP_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:123457
    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_005262687.4XP_005262744.1  phosphatidate cytidylyltransferase 1 isoform X2

    Conserved Domains (1) summary
    cl21502
    Location:123417
    CTP_transf_1; Cytidylyltransferase family
  2. XM_017007650.3XP_016863139.1  phosphatidate cytidylyltransferase 1 isoform X4

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

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

  5. XM_017007651.3XP_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_054348745.1XP_054204720.1  phosphatidate cytidylyltransferase 1 isoform X2

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

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

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

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