PCYT1A (phosphate cytidylyltransferase 1A, choline)

2011-03-01  

Identity

HGNC
LOCATION
3q29
LOCUSID
ALIAS
CCTA,CCTalpha,CT,CTA,CTPCT,PCYT1,SMDCRD
FUSION GENES

Other Information

Locus ID:

NCBI: 5130
MIM: 123695
HGNC: 8754
Ensembl: ENSG00000161217

Variants:

dbSNP: 5130
ClinVar: 5130
TCGA: ENSG00000161217
COSMIC: PCYT1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161217ENST00000292823P49585
ENSG00000161217ENST00000411591C9J050
ENSG00000161217ENST00000412869C9JPY0
ENSG00000161217ENST00000419333C9JEJ2
ENSG00000161217ENST00000430755H7C1T3
ENSG00000161217ENST00000431016P49585
ENSG00000161217ENST00000433733H7BZN1
ENSG00000161217ENST00000438634F8WBU2
ENSG00000161217ENST00000441879C9J2E1
ENSG00000161217ENST00000443555C9JVS0
ENSG00000161217ENST00000444822F8WAZ5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Phosphonate and phosphinate metabolismKEGGko00440
Glycerophospholipid metabolismKEGGko00564
Phosphonate and phosphinate metabolismKEGGhsa00440
Glycerophospholipid metabolismKEGGhsa00564
Metabolic pathwaysKEGGhsa01100
Phosphatidylcholine (PC) biosynthesis, choline => PCKEGGhsa_M00090
Phosphatidylcholine (PC) biosynthesis, choline => PCKEGGM00090
Choline metabolism in cancerKEGGhsa05231
Choline metabolism in cancerKEGGko05231
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PCREACTOMER-HSA-1483191

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA450163lamivudineChemicalPathwayassociated

References

Pubmed IDYearTitleCitations
248896302014Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.36
261657972015CTP:phosphocholine cytidylyltransferase: Function, regulation, and structure of an amphitropic enzyme required for membrane biogenesis.33
197377402010Associations of folate and choline metabolism gene polymorphisms with orofacial clefts.23
243879902014Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.19
243879912014Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.13
206629042010Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts.12
171845422006CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population.11
171845422006CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population.11
282725372017Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.6
305592922019Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability.4

Citation

Dessen P

PCYT1A (phosphate cytidylyltransferase 1A, choline)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52117/pcyt1a