Gene

Pcyt1a

Species
Mus musculus
Symbol
Pcyt1a
Name
phosphate cytidylyltransferase 1, choline, alpha isoform
Synonyms
  • CCT-alpha
  • Cctalpha
Biotype
protein coding gene
Automated Description
Enables choline-phosphate cytidylyltransferase activity. Involved in B cell proliferation; CDP-choline pathway; and isotype switching. Located in endoplasmic reticulum membrane and glycogen granule. Is expressed in several structures, including alimentary system; central nervous system; ear; genitourinary system; and integumental system. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy and spondylometaphyseal dysplasia with cone-rod dystrophy. Orthologous to human PCYT1A (phosphate cytidylyltransferase 1A, choline).
MGI Description
PHENOTYPE: Embryos homozygous for a targeted null mutation fail to form blastocysts, do not develop past E3.5, and fail to implant. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10739
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Pcyt1a molecule type
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            Genetic Interactions

            Pcyt1a role
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