Gene table of PCYT1A : phosphate cytidylyltransferase 1, choline, alpha

Gene-disease associations table

Disease IDDisease nameSource of annotation with PCYT1AOMIM linkNumber of associated genesgenes
608940SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHYClinVar, OMIM, HUMSAVAR link to OMIM 1PCYT1A

Download the gene annotation in CSV format

Annotation of the gene PCYT1A

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Choline metabolism in cancerhsa052316.09
Glycerophospholipid metabolismhsa005646.15
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
MetabolismR-HSA-14307282.34
Glycerophospholipid biosynthesisR-HSA-14832066.46
Synthesis of PCR-HSA-14831918.73
Phospholipid metabolismR-HSA-14832575.83
Associated GO terms for Molecular function
GO termGO IDGO IC
nucleotidyltransferase activityGO:00167794.81
choline-phosphate cytidylyltransferase activityGO:00041059.05
catalytic activityGO:00038241.05
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
lipid bindingGO:00082893.26
cytidylyltransferase activityGO:00705677.54
transferase activityGO:00167401.95
bindingGO:00054880.18
protein bindingGO:00055150.46
protein dimerization activityGO:00469832.72
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16