Gene

PCYT1A

Species
Homo sapiens
Symbol
PCYT1A
Name
phosphate cytidylyltransferase 1A, choline
Synonyms
  • CCT A
  • CCT-alpha
Biotype
protein coding gene
Automated Description
Enables choline-phosphate cytidylyltransferase activity and identical protein binding activity. Involved in CDP-choline pathway. Located in endoplasmic reticulum and nucleus. Is active in endoplasmic reticulum membrane. Implicated in congenital generalized lipodystrophy and spondylometaphyseal dysplasia with cone-rod dystrophy.
RGD Description
This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10739
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

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

    Allele/Variant Symbol
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          PCYT1A molecule type
          Interactor gene
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          Interactor molecule type
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            Genetic Interactions

            PCYT1A role
            PCYT1A genetic perturbation
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