CEPT1 - choline/ethanolamine phosphotransferase 1 Gene

Homo sapiens

Gene ID: 10390 | Gene type: protein coding

About CEPT1

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:111,139,499-111,185,104 (from NCBI)

This gene has 13 transcripts (splice variants), 240 orthologues and 2 paralogues. Ubiquitous expression in spleen (RPKM 19.9), lymph node (RPKM 17.1) and 25 other tissues.

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]

CEPT1 Products(4)

mRNA	Protein	Name
NM_001007794.3	NP_001007795.1	choline/ethanolaminephosphotransferase 1 isoform 1
NM_001330743.2	NP_001317672.1	choline/ethanolaminephosphotransferase 1 isoform 1
NM_001410844.1	NP_001397773.1	choline/ethanolaminephosphotransferase 1 isoform 2
NM_006090.5	NP_006081.1	choline/ethanolaminephosphotransferase 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables diacylglycerol cholinephosphotransferase activity	IDA IDA: Inferred from direct assay	10191259	GOA
enables ethanolaminephosphotransferase activity	IDA IDA: Inferred from direct assay	10191259	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in phosphatidylcholine biosynthetic process	IDA IDA: Inferred from direct assay	10191259	GOA
involved in phosphatidylethanolamine biosynthetic process	IDA IDA: Inferred from direct assay	10191259	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	12221122	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CEPT1 Protein Structure

CDP-OH_P_transf

0
100
200
300
416 a.a.

Protein Preferred Names

Protein Names

choline/ethanolaminephosphotransferase 1

1-alkenyl-2-acylglycerol choline phosphotransferase

CEPT1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CEPT1	Q9Y6K0	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Intra	CEPT1	Q9Y6K0	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neuronopathy, Distal Hereditary Motor, Type Viia

HMN7A	Hmn Viia
Dhmn7a	Neuropathy, Distal Hereditary Motor, Type Viia
Dhmnvp	Harper-Young Myopathy
Distal Hereditary Motor Neuronopathy Type 7a	Distal Hereditary Motor Neuropathy Type Viia
Neuronopathy, Distal Hereditary Motor, Type 7a	Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7a	Harper-Young Myopath
Neuronopathy, Distal Hereditary Motor, 7a	Distal Hereditary Motor Neuronopathy Type Viia
Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis	Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
Neuropathy, Motor, Distal, Hereditary, Type Viia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02531	CEPT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CEPT1	RGD	RGD:1359727
Macaca mulatta	CEPT1	VGNC	VGNC:71087
Mus musculus	CEPT1	MGD	MGI:2139793
Felis catus	CEPT1	VGNC	VGNC:80165
Bos taurus	CEPT1	VGNC	VGNC:27220
Canis familiaris	CEPT1	VGNC	VGNC:39144

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