phosphate cytidylyltransferase 1A, choline

Summary
Gene Symbol
  • PCYT1A
Aliases
  • CCTalpha
  • CT
  • CTP:phosphocholine cytidylyltransferase-alpha
  • CTPCT
  • choline-phosphate cytidylyltransferase alpha
  • phosphate cytidylyltransferase 1, choline, alpha isoform
  • phosphorylcholine transferase alpha
Organism
Homo sapiens (human)
External Links
NCBI Gene
5130
HGNC
8754
KEGG Gene ID
hsa:5130
PubChem
5130
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Coiled coil
  • Cone-rod dystrophy
  • Congenital generalized lipodystrophy
  • Cytoplasm
  • Diabetes mellitus
  • Disease variant
  • Dwarfism
  • Endoplasmic reticulum
  • Membrane
  • Nucleotidyltransferase
  • Nucleus
  • Phospholipid biosynthesis
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
B4E322
P49585
  • CCT-alpha
  • CTP:phosphocholine cytidylyltransferase A
  • Phosphorylcholine transferase A
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
CDP-choline pathway
phosphatidylcholine biosynthetic process
GO Hierarchy
Human Protein Atlas
ENSG00000161217

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00968
Name
choline-phosphate cytidylyltransferase [EC:2.7.7.15]
References
Disease
Disease Ontology
Displaying entries 51 - 60 of 264 in total
DO ID Disease Name Source
DOID:0110429 dilated cardiomyopathy 1H
DOID:0110430 dilated cardiomyopathy 1G
DOID:0110431 dilated cardiomyopathy 1I
DOID:0110432 dilated cardiomyopathy 1NN
DOID:0110433 dilated cardiomyopathy 1E
DOID:0110434 dilated cardiomyopathy 1Z
DOID:0110435 dilated cardiomyopathy 1GG
DOID:0110436 dilated cardiomyopathy 1L
DOID:0110437 dilated cardiomyopathy 1K
DOID:0110438 dilated cardiomyopathy 1JJ
The Human Phenotype Ontology
Displaying entries 1 - 10 of 72 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000365 Hearing impairment
HP:0000403 Recurrent otitis media
HP:0000486 Strabismus
HP:0000505 Visual impairment
HP:0000512 Abnormal electroretinogram
HP:0000518 Cataract
HP:0000529 Progressive visual loss
HP:0000539 Abnormality of refraction
HP:0000545 Myopia
Displaying all 3 entries
Disease ID Disease Name
ORPHA:65
  • Leber congenital amaurosis
ORPHA:85167
  • spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
OMIM:608940
  • spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001277
Gene Name
phosphate cytidylyltransferase 1, choline, alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024