Property Summary

NCBI Gene PubMed Count 23
Grant Count 33
R01 Count 27
Funding $9,531,134.95
PubMed Score 227.30
PubTator Score 40.28

Knowledge Summary

Patent

No data available

Expression

Gene RIF (9)

PMID Text
26165797 CCT contributes to phospholipid compositional homeostasis. [Review]
24889630 PCYT1A-generated phosphatidylcholine has a role in the normal function of white adipose tissue and insulin action
24387991 Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy
24387990 We report loss-of-function mutations in PCYT1A as the cause of spondylometaphyseal dysplasia with cone-rod dystrophy.
20662904 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20661636 N-Methylaspartate induced nitric oxide synthase activation and nuclear factor-kB subunit p65 nuclear translocation in A549 cells were responsible for decreased CTP:phosphocholine cytidylyltransferase A expression
19737740 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17184542 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17184542 Analyses showed genotype effects of PCYT1A genes on spina bifida risk, but did not show evidence of gene-nutrient. interactions.

AA Sequence

MDAQCSAKVNARKRRKEAPGPNGATEEDGVPSKVQRCAVGLRQPAPFSDEIEVDFSKPYVRVTMEEASRG      1 - 70
TPCERPVRVYADGIFDLFHSGHARALMQAKNLFPNTYLIVGVCSDELTHNFKGFTVMNENERYDAVQHCR     71 - 140
YVDEVVRNAPWTLTPEFLAEHRIDFVAHDDIPYSSAGSDDVYKHIKEAGMFAPTQRTEGISTSDIITRIV    141 - 210
RDYDVYARRNLQRGYTAKELNVSFINEKKYHLQERVDKVKKKVKDVEEKSKEFVQKVEEKSIDLIQKWEE    211 - 280
KSREFIGSFLEMFGPEGALKHMLKEGKGRMLQAISPKQSPSSSPTRERSPSPSFRWPFSGKTSPPCSPAN    281 - 350
LSRHKAAAYDISEDEED                                                         351 - 367
//

Text Mined References (34)

PMID Year Title
26165797 2015 CTP:phosphocholine cytidylyltransferase: Function, regulation, and structure of an amphitropic enzyme required for membrane biogenesis.
24889630 2014 Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
24387991 2014 Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
24387990 2014 Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20662904 2010 Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts.
More...