Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10390
Gene name Gene Name - the full gene name approved by the HGNC.
Choline/ethanolamine phosphotransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEPT1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023012 hsa-miR-124-3p Microarray 18668037
MIRT023468 hsa-miR-23b-3p Sequencing 20371350
MIRT024992 hsa-miR-183-5p Sequencing 20371350
MIRT050143 hsa-miR-26a-5p CLASH 23622248
MIRT444114 hsa-miR-3133 PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004142 Function Diacylglycerol cholinephosphotransferase activity IBA 21873635
GO:0004307 Function Ethanolaminephosphotransferase activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616751 24289 ENSG00000134255
Protein
UniProt ID Q9Y6K0
Protein name Choline/ethanolaminephosphotransferase 1 (hCEPT1) (EC 2.7.8.1) (EC 2.7.8.2) (1-alkenyl-2-acylglycerol choline phosphotransferase) (EC 2.7.8.22)
Protein function Catalyzes both phosphatidylcholine and phosphatidylethanolamine biosynthesis from CDP-choline and CDP-ethanolamine, respectively (PubMed:10191259, PubMed:10893425, PubMed:12216837, PubMed:37137909). Involved in protein-dependent process of phosp
PDB 8GYW , 8GYX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01066 CDP-OH_P_transf 83 158 CDP-alcohol phosphatidyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10191259}.
Sequence
MSGHRSTRKRCGDSHPESPVGFGHMSTTGCVLNKLFQLPTPPLSRHQLKRLEEHRYQSAG
RSLLEPLMQGYWEWLVRRVPSWIAPNLITIIGLSINICTTILLVFYCPTATEQAPLWAYI
ACACGLFIYQSLDAIDGKQARRTNSSSPLGELFDHGCD
SLSTVFVVLGTCIAVQLGTNPD
WMFFCCFAGTFMFYCAHWQTYVSGTLRFGIIDVTEVQIFIIIMHLLAVIGGPPFWQSMIP
VLNIQMKIFPALCTVAGTIFSCTNYFRVIFTGGVGKNGSTIAGTSVLSPFLHIGSVITLA
AMIYKKSAVQLFEKHPCLYILTFGFVSAKITNKLVVAHMTKSEMHLHDTAFIGPALLFLD
QYFNSFIDEYIVLWIALVFSFFDLIRYCVSVCNQIASHLHIHVFRIKVSTAHSNHH
Sequence length 416
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Phosphonate and phosphinate metabolism
Glycerophospholipid metabolism
Ether lipid metabolism
Metabolic pathways
  Synthesis of PC
Synthesis of PE
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Associations from Text Mining
Disease Name Relationship Type References
COVID 19 Associate 38327202
Hyperglycemic Hyperosmolar Nonketotic Coma Associate 33450726
Liver Cirrhosis Associate 37486962
Lymphoma Non Hodgkin Associate 23992009
Maturity Onset Diabetes of the Young Type 2 Associate 33450726
Neoplasms Associate 23992009
Non ST Elevated Myocardial Infarction Associate 26509668