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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 (Choline/Ethanolamine Phosphotransferase 1) is a Protein Coding gene. Among its related pathways are Glycerophospholipid biosynthesis and Acyl chain remodelling of PE. Gene Ontology (GO) annotations related to this gene include phosphotransferase activity, for other substituted phosphate groups and ethanolaminephosphotransferase activity. An important paralog of this gene is CHPT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004142 | diacylglycerol cholinephosphotransferase activity | IBA | 21873635 |
GO:0004307 | ethanolaminephosphotransferase activity | IBA | 21873635 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016780 | phosphotransferase activity, for other substituted phosphate groups | IEA,IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005794 | Golgi apparatus | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis |
.01
|
|
2 | Metabolism |
.40
|
|
3 | Acyl chain remodelling of PE | ||
4 | Synthesis of PC | ||
5 | Glycerophospholipid Biosynthetic Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | TAS | 10191259 |
GO:0006646 | phosphatidylethanolamine biosynthetic process | IBA,TAS | -- |
GO:0006656 | phosphatidylcholine biosynthetic process | TAS | -- |
GO:0006657 | CDP-choline pathway | IEA | -- |
GO:0008654 | phospholipid biosynthetic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Choline | Approved | Nutra | Enzyme, substrate | 223 | ||
Choline salicylate | Approved | Nutra | Enzyme, substrate | 0 | ||
Citicoline | Approved, Experimental | Pharma | 0 | |||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Manganese | Approved | Nutra | 56 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
CDP-Ethanolamine |
|
3036-18-8 |
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CMP-2-aminoethylphosphonate |
|
|
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CMP-N-trimethyl-2-aminoethylphosphonate |
|
|
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PC(18:1(9Z)e/2:0) |
|
|
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PE(P-16:0e/16:0) |
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|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CEPT1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CEPT1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CEPT1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cept1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cept1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | CEPT1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CEPT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CEPT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CEPT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cept1 30 |
|
||
Str.8915 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | cept1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cept1a 31 |
|
OneToMany | |
cept1b 30 31 |
|
OneToMany | |||
Dr.669 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6016 32 |
|
|
|
bbc 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | Y49A3A.1 30 32 |
|
||
cept-1 31 |
|
ManyToMany | |||
cept-2 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CPT1 31 33 |
|
ManyToMany | |
EPT1 31 |
|
ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AAPT1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0119800 30 |
|
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Bread mold (Neurospora crassa) |
Ascomycetes | NCU03223 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
775055 | Benign: not provided | 111,159,398(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2455976 | CNV | deletion | 19546169 |
nsv10639 | CNV | gain | 18304495 |
nsv1113155 | CNV | deletion | 24896259 |
No disorders were found for CEPT1 Gene.