InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PCYT1A

Summary

InnateDB Protein

IDBP-71100.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PCYT1A

Protein Name

phosphate cytidylyltransferase 1, choline, alpha

Synonyms

CCTA; CT; CTA; CTPCT; PCYT1; SMDCRD;

Species

Homo sapiens

Ensembl Protein

ENSP00000292823

InnateDB Gene

IDBG-71098 (PCYT1A)

Protein Structure

UniProt Annotation

Function

Controls phosphatidylcholine synthesis.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=It can interconvert between an inactive cytosolic form and an active membrane-bound form. {ECO:0000250}.

Disease Associations

Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]: A disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. {ECO:0000269PubMed:24387990, ECO:0000269PubMed:24387991}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	7 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004105	choline-phosphate cytidylyltransferase activity
GO:0005515	protein binding
GO:0008289	lipid binding
GO:0042803	protein homodimerization activity

Biological Process

GO:0006644	phospholipid metabolic process
GO:0006656	phosphatidylcholine biosynthetic process
GO:0006657	CDP-choline pathway
GO:0009058	biosynthetic process
GO:0044281	small molecule metabolic process
GO:0046474	glycerophospholipid biosynthetic process