Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10390
Gene name	Choline/ethanolamine phosphotransferase 1
Gene symbol	CEPT1
Synonyms (NCBI Gene)	-
Chromosome	1
Chromosome location	1p13.3
Summary	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]

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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
MIRT444113	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT444112	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444111	hsa-miR-545-5p	PAR-CLIP	22100165
MIRT444109	hsa-miR-4797-3p	PAR-CLIP	22100165
MIRT444110	hsa-miR-1253	PAR-CLIP	22100165
MIRT444108	hsa-miR-6770-5p	PAR-CLIP	22100165
MIRT444107	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT444106	hsa-miR-670-3p	PAR-CLIP	22100165
MIRT444114	hsa-miR-3133	PAR-CLIP	22100165
MIRT444113	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT444112	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444111	hsa-miR-545-5p	PAR-CLIP	22100165
MIRT444109	hsa-miR-4797-3p	PAR-CLIP	22100165
MIRT444110	hsa-miR-1253	PAR-CLIP	22100165
MIRT444108	hsa-miR-6770-5p	PAR-CLIP	22100165
MIRT444107	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT444106	hsa-miR-670-3p	PAR-CLIP	22100165
MIRT444114	hsa-miR-3133	PAR-CLIP	22100165
MIRT444113	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT444112	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444111	hsa-miR-545-5p	PAR-CLIP	22100165
MIRT444109	hsa-miR-4797-3p	PAR-CLIP	22100165
MIRT444110	hsa-miR-1253	PAR-CLIP	22100165
MIRT444108	hsa-miR-6770-5p	PAR-CLIP	22100165
MIRT444107	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT444106	hsa-miR-670-3p	PAR-CLIP	22100165
MIRT444114	hsa-miR-3133	PAR-CLIP	22100165
MIRT444113	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT444112	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444111	hsa-miR-545-5p	PAR-CLIP	22100165
MIRT444109	hsa-miR-4797-3p	PAR-CLIP	22100165
MIRT444110	hsa-miR-1253	PAR-CLIP	22100165
MIRT444108	hsa-miR-6770-5p	PAR-CLIP	22100165
MIRT444107	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT444106	hsa-miR-670-3p	PAR-CLIP	22100165
MIRT886614	hsa-miR-1229	CLIP-seq
MIRT886615	hsa-miR-342-3p	CLIP-seq
MIRT886616	hsa-miR-377	CLIP-seq
MIRT886617	hsa-miR-1305	CLIP-seq
MIRT886618	hsa-miR-149	CLIP-seq
MIRT886619	hsa-miR-203	CLIP-seq
MIRT886620	hsa-miR-300	CLIP-seq
MIRT886621	hsa-miR-3064-5p	CLIP-seq
MIRT886622	hsa-miR-3126-3p	CLIP-seq
MIRT886623	hsa-miR-3199	CLIP-seq
MIRT886624	hsa-miR-381	CLIP-seq
MIRT886625	hsa-miR-3923	CLIP-seq
MIRT886626	hsa-miR-4426	CLIP-seq
MIRT886627	hsa-miR-4495	CLIP-seq
MIRT886628	hsa-miR-4496	CLIP-seq
MIRT886629	hsa-miR-4647	CLIP-seq
MIRT886630	hsa-miR-4662a-3p	CLIP-seq
MIRT886631	hsa-miR-4662b	CLIP-seq
MIRT886632	hsa-miR-4666-3p	CLIP-seq
MIRT886633	hsa-miR-4680-5p	CLIP-seq
MIRT886634	hsa-miR-4761-5p	CLIP-seq
MIRT886635	hsa-miR-4794	CLIP-seq
MIRT886636	hsa-miR-549	CLIP-seq
MIRT886637	hsa-miR-556-3p	CLIP-seq
MIRT1962933	hsa-miR-128	CLIP-seq
MIRT1962934	hsa-miR-144	CLIP-seq
MIRT886618	hsa-miR-149	CLIP-seq
MIRT1962935	hsa-miR-27a	CLIP-seq
MIRT1962936	hsa-miR-27b	CLIP-seq
MIRT886621	hsa-miR-3064-5p	CLIP-seq
MIRT886622	hsa-miR-3126-3p	CLIP-seq
MIRT1962937	hsa-miR-4427	CLIP-seq
MIRT1962938	hsa-miR-4680-3p	CLIP-seq
MIRT1962939	hsa-miR-4705	CLIP-seq
MIRT1962940	hsa-miR-4717-3p	CLIP-seq
MIRT1962941	hsa-miR-4778-5p	CLIP-seq
MIRT886635	hsa-miR-4794	CLIP-seq
MIRT1962942	hsa-miR-4795-3p	CLIP-seq
MIRT1962943	hsa-miR-665	CLIP-seq
MIRT2199280	hsa-miR-1256	CLIP-seq
MIRT1962937	hsa-miR-4427	CLIP-seq
MIRT1962938	hsa-miR-4680-3p	CLIP-seq
MIRT1962939	hsa-miR-4705	CLIP-seq
MIRT1962940	hsa-miR-4717-3p	CLIP-seq
MIRT1962943	hsa-miR-665	CLIP-seq
MIRT2502048	hsa-miR-1268	CLIP-seq
MIRT2502049	hsa-miR-1268b	CLIP-seq
MIRT2502050	hsa-miR-1296	CLIP-seq
MIRT2502051	hsa-miR-186	CLIP-seq
MIRT2502052	hsa-miR-2116	CLIP-seq
MIRT2502053	hsa-miR-2909	CLIP-seq
MIRT886620	hsa-miR-300	CLIP-seq
MIRT2502054	hsa-miR-3141	CLIP-seq
MIRT2502055	hsa-miR-340	CLIP-seq
MIRT2502056	hsa-miR-375	CLIP-seq
MIRT886616	hsa-miR-377	CLIP-seq
MIRT886624	hsa-miR-381	CLIP-seq
MIRT2502057	hsa-miR-4273	CLIP-seq
MIRT886632	hsa-miR-4666-3p	CLIP-seq
MIRT2502058	hsa-miR-4677-5p	CLIP-seq
MIRT2502059	hsa-miR-4789-5p	CLIP-seq
MIRT1962942	hsa-miR-4795-3p	CLIP-seq
MIRT2502060	hsa-miR-548n	CLIP-seq
MIRT2502061	hsa-miR-548t	CLIP-seq
MIRT2502048	hsa-miR-1268	CLIP-seq
MIRT2502049	hsa-miR-1268b	CLIP-seq
MIRT2502050	hsa-miR-1296	CLIP-seq
MIRT2502051	hsa-miR-186	CLIP-seq
MIRT2502052	hsa-miR-2116	CLIP-seq
MIRT2502053	hsa-miR-2909	CLIP-seq
MIRT886620	hsa-miR-300	CLIP-seq
MIRT2502054	hsa-miR-3141	CLIP-seq
MIRT886623	hsa-miR-3199	CLIP-seq
MIRT2502055	hsa-miR-340	CLIP-seq
MIRT2502056	hsa-miR-375	CLIP-seq
MIRT886616	hsa-miR-377	CLIP-seq
MIRT886624	hsa-miR-381	CLIP-seq
MIRT2502057	hsa-miR-4273	CLIP-seq
MIRT886626	hsa-miR-4426	CLIP-seq
MIRT886629	hsa-miR-4647	CLIP-seq
MIRT886631	hsa-miR-4662b	CLIP-seq
MIRT886632	hsa-miR-4666-3p	CLIP-seq
MIRT2502058	hsa-miR-4677-5p	CLIP-seq
MIRT2502059	hsa-miR-4789-5p	CLIP-seq
MIRT1962942	hsa-miR-4795-3p	CLIP-seq
MIRT2502060	hsa-miR-548n	CLIP-seq
MIRT2502061	hsa-miR-548t	CLIP-seq
MIRT886636	hsa-miR-549	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004142	Function	Diacylglycerol cholinephosphotransferase activity	IBA
GO:0004142	Function	Diacylglycerol cholinephosphotransferase activity	IDA	10191259, 37137909
GO:0004142	Function	Diacylglycerol cholinephosphotransferase activity	IEA
GO:0004307	Function	Ethanolaminephosphotransferase activity	IBA
GO:0004307	Function	Ethanolaminephosphotransferase activity	IDA	10191259
GO:0004307	Function	Ethanolaminephosphotransferase activity	IEA
GO:0004307	Function	Ethanolaminephosphotransferase activity	TAS	10191259
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	12221122
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	TAS	10191259
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IBA
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IDA	10191259
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IDA	10191259, 37137909
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IEA
GO:0006656	Process	Phosphatidylcholine biosynthetic process	IEA
GO:0006657	Process	CDP-choline pathway	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10191259
GO:0016740	Function	Transferase activity	IEA
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047359	Function	1-alkenyl-2-acylglycerol choline phosphotransferase activity	IEA

MIM	HGNC	e!Ensembl
616751	24289	ENSG00000134255

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
ACACGLFIYQSLDAIDGKQARRTNSSSPLGELFDHGCDSLSTVFVVLGTCIAVQLGTNPD
WMFFCCFAGTFMFYCAHWQTYVSGTLRFGIIDVTEVQIFIIIMHLLAVIGGPPFWQSMIP
VLNIQMKIFPALCTVAGTIFSCTNYFRVIFTGGVGKNGSTIAGTSVLSPFLHIGSVITLA
AMIYKKSAVQLFEKHPCLYILTFGFVSAKITNKLVVAHMTKSEMHLHDTAFIGPALLFLD
QYFNSFIDEYIVLWIALVFSFFDLIRYCVSVCNQIASHLHIHVFRIKVSTAHSNHH

Sequence length

416

Interactions

View interactions

	KEGG		Reactome
	Phosphonate and phosphinate metabolism Glycerophospholipid metabolism Ether lipid metabolism Metabolic pathways		Synthesis of PC Synthesis of PE

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31219671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28844958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37486962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	28714469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26512026		★★★★★ ★☆☆☆☆ Found in Text Mining only

CEPT1 (choline/ethanolamine phosphotransferase 1)