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Pcyt2 phosphate cytidylyltransferase 2, ethanolamine [ Mus musculus (house mouse) ]

Gene ID: 68671, updated on 27-Nov-2024

Summary

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Official Symbol
Pcyt2provided by MGI
Official Full Name
phosphate cytidylyltransferase 2, ethanolamineprovided by MGI
Primary source
MGI:MGI:1915921
See related
Ensembl:ENSMUSG00000025137 AllianceGenome:MGI:1915921
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ET; 1110033E03Rik
Summary
Enables ethanolamine-phosphate cytidylyltransferase activity. Involved in phosphatidylethanolamine biosynthetic process. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 82. Orthologous to human PCYT2 (phosphate cytidylyltransferase 2, ethanolamine). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in liver adult (RPKM 301.0), duodenum adult (RPKM 190.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Pcyt2 in Genome Data Viewer
Location:
11 E2; 11 84.33 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (120500888..120508784, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (120610062..120617947, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene Aly/REF export factor Neighboring gene STARR-positive B cell enhancer ABC_E1854 Neighboring gene anaphase promoting complex subunit 11 Neighboring gene neuropeptide B Neighboring gene STARR-positive B cell enhancer ABC_E7114 Neighboring gene sirtuin 7 Neighboring gene microRNA 6936 Neighboring gene STARR-positive B cell enhancer ABC_E7115 Neighboring gene v-maf musculoaponeurotic fibrosarcoma oncogene family, protein G (avian) Neighboring gene predicted gene, 17586

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Male-Specific Cardiac Dysfunction in CTP:Phosphoethanolamine Cytidylyltransferase (Pcyt2)-Deficient Mice. Basu P, et al. Mol Cell Biol, 2015 Aug. PMID 25986609, Free PMC Article
  2. Complementation of the metabolic defect in CTP:phosphoethanolamine cytidylyltransferase (Pcyt2)-deficient primary hepatocytes. Fullerton MD, et al. Metabolism, 2010 Dec. PMID 20427062
  3. Low-density lipoprotein and oxysterols suppress the transcription of CTP: Phosphoethanolamine cytidylyltransferase in vitro. Ando H, et al. Biochim Biophys Acta, 2010 Apr. PMID 20045741
  4. Mechanism of hypertriglyceridemia in CTP:phosphoethanolamine cytidylyltransferase-deficient mice. Singh RK, et al. J Lipid Res, 2012 Sep. PMID 22764088, Free PMC Article
  5. A novel murine CTP:phosphoethanolamine cytidylyltransferase splice variant is a post-translational repressor and an indicator that both cytidylyltransferase domains are required for activity. Pavlovic Z, et al. Gene, 2014 Jun 10. PMID 24703999

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing.
    Title: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing.
  2. p75NTR enhances cognitive dysfunction in a mouse Alzheimer's disease model by inhibiting microRNA-210-3p-mediated PCYT2 through activation of NF-kappaB.
    Title: p75NTR enhances cognitive dysfunction in a mouse Alzheimer's disease model by inhibiting microRNA-210-3p-mediated PCYT2 through activation of NF-κB.
  3. Pcyt2 deficiency causes age-dependant development of nonalcoholic steatohepatitis and insulin resistance that could be attenuated with phosphoethanolamine.
    Title: Pcyt2 deficiency causes age-dependant development of nonalcoholic steatohepatitis and insulin resistance that could be attenuated with phosphoethanolamine.
  4. we conclude that NF-Y and YY1 are important for the basal transcription of Pcyt2 and that NF-Y is involved in the inhibitory effects of 25-HC on Pcyt2 transcription.
    Title: Transcriptional suppression of CTP:phosphoethanolamine cytidylyltransferase by 25-hydroxycholesterol is mediated by nuclear factor-Y and Yin Yang 1.
  5. The data identify Pcyt2 and membrane Phosphatidylethanolamine biogenesis as important determinants of gender-specific differences in cardiac lipids and heart function.
    Title: Male-Specific Cardiac Dysfunction in CTP:Phosphoethanolamine Cytidylyltransferase (Pcyt2)-Deficient Mice.
  6. The naturally occurring splice variant Pcyt2gamma has a function to restrain the enzyme activity through the formation of unproductive enzyme complexes.
    Title: A novel murine CTP:phosphoethanolamine cytidylyltransferase splice variant is a post-translational repressor and an indicator that both cytidylyltransferase domains are required for activity.
  7. differences in phosphorylation between Pcyt2 isoforms
    Title: Isoform-specific and protein kinase C-mediated regulation of CTP:phosphoethanolamine cytidylyltransferase phosphorylation.
  8. hypertriglyceridemia that accompanies Pcyt2 deficiency is the result of multiple metabolic adaptations
    Title: Mechanism of hypertriglyceridemia in CTP:phosphoethanolamine cytidylyltransferase-deficient mice.
  9. data unambiguously establish that the TAG accumulation present in Pcyt2-deficient hepatocytes is a direct consequence of Pcyt2 gene deficiency and reduced functioning of the de novo Kennedy pathway
    Title: Complementation of the metabolic defect in CTP:phosphoethanolamine cytidylyltransferase (Pcyt2)-deficient primary hepatocytes.
  10. PE phospholipids, Pcyt2 deficiency generates compensatory changes in triglyceride and energy substrate metabolism, resulting in a progressive development of liver steatosis, hypertriglyceridemia, obesity, and insulin resistance
    Title: The development of a metabolic disease phenotype in CTP:phosphoethanolamine cytidylyltransferase-deficient mice.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (2)  1 citation

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 MGI

Function Evidence Code Pubs
enables ethanolamine-phosphate cytidylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ethanolamine-phosphate cytidylyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ethanolamine-phosphate cytidylyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in phosphatidylethanolamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylethanolamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylethanolamine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phosphatidylethanolamine biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ethanolamine-phosphate cytidylyltransferase
Names
CTP:phosphoethanolamine cytidylyltransferase
phosphorylethanolamine transferase
NP_001334544.1
NP_001349930.1
NP_077191.2
XP_006534132.1
XP_006534134.1
XP_036012825.1
XP_036012826.1

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_001347615.2 → NP_001334544.1  ethanolamine-phosphate cytidylyltransferase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL663030
    Consensus CDS
    CCDS83946.1
    UniProtKB/TrEMBL
    A2ABY3, Q3TLU0
    Related
    ENSMUSP00000101794.4, ENSMUST00000106188.4

  2. NM_001363001.1 → NP_001349930.1  ethanolamine-phosphate cytidylyltransferase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AK144544, AL663030
    UniProtKB/TrEMBL
    Q540F5
    Conserved Domains (1) summary
    cl28626
    Location:15 → 345
    PLN02406; ethanolamine-phosphate cytidylyltransferase

  3. NM_024229.3 → NP_077191.2  ethanolamine-phosphate cytidylyltransferase isoform 1

    See identical proteins and their annotated locations for NP_077191.2

    Status: VALIDATED

    Source sequence(s)
    AK140458, AL663030
    Consensus CDS
    CCDS25747.1
    UniProtKB/Swiss-Prot
    Q922E4, Q99J50
    UniProtKB/TrEMBL
    Q3USD5, Q540F5
    Related
    ENSMUSP00000026129.10, ENSMUST00000026129.16
    Conserved Domains (3) summary
    PTZ00308
    Location:15 → 390
    PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional
    cd02173
    Location:230 → 382
    ECT; CTP:phosphoethanolamine cytidylyltransferase (ECT)
    cd02174
    Location:21 → 163
    CCT; CTP:phosphocholine cytidylyltransferase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    120500888..120508784 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036156933.1 → XP_036012826.1  ethanolamine-phosphate cytidylyltransferase isoform X4

    UniProtKB/TrEMBL
    Q3TLU0
    Conserved Domains (1) summary
    PTZ00308
    Location:15 → 318
    PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

  2. XM_036156932.1 → XP_036012825.1  ethanolamine-phosphate cytidylyltransferase isoform X3

    UniProtKB/TrEMBL
    Q540F5
    Conserved Domains (1) summary
    PTZ00308
    Location:15 → 336
    PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

  3. XM_006534071.3 → XP_006534134.1  ethanolamine-phosphate cytidylyltransferase isoform X2

    UniProtKB/TrEMBL
    Q3TLU0
    Conserved Domains (1) summary
    PTZ00308
    Location:15 → 371
    PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

  4. XM_006534069.3 → XP_006534132.1  ethanolamine-phosphate cytidylyltransferase isoform X1

    UniProtKB/TrEMBL
    Q540F5
    Conserved Domains (1) summary
    PTZ00308
    Location:15 → 389
    PTZ00308; ethanolamine-phosphate cytidylyltransferase; Provisional

RNA

  1. XR_001780048.2 RNA Sequence

  2. XR_004937013.1 RNA Sequence

  3. XR_003949495.2 RNA Sequence

  4. XR_879733.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q922E4.1 GenPept UniProtKB/Swiss-Prot:Q922E4

Gene LinkOut

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