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CHPT1 (Choline Phosphotransferase 1) is a Protein Coding gene. Diseases associated with CHPT1 include Spermatogenic Failure 4 and Mucolipidosis. Among its related pathways are Phospholipase D signaling pathway and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include diacylglycerol binding and diacylglycerol cholinephosphotransferase activity. An important paralog of this gene is CEPT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004142 | diacylglycerol cholinephosphotransferase activity | IBA,IDA | 10893425 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016780 | phosphotransferase activity, for other substituted phosphate groups | IEA,IBA | 21873635 |
GO:0019992 | diacylglycerol binding | NAS | 10893425 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005789 | endoplasmic reticulum membrane | IBA | 21873635 |
GO:0005794 | Golgi apparatus | IBA | 21873635 |
GO:0016020 | membrane | IEA,NAS | 10893425 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis | ||
2 | Metabolism |
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3 | Phospholipase D signaling pathway | ||
4 | Acyl chain remodelling of PE | ||
5 | Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001558 | regulation of cell growth | NAS | 10893425 |
GO:0006629 | lipid metabolic process | TAS | 10893425 |
GO:0006656 | phosphatidylcholine biosynthetic process | TAS | -- |
GO:0006657 | CDP-choline pathway | NAS | 10893425 |
GO:0006663 | platelet activating factor biosynthetic process | IDA | 10893425 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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Argininosuccinic acid |
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2387-71-5 | ||||
CMP-N-trimethyl-2-aminoethylphosphonate |
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Diglycerides Group A |
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Diglycerides Group B |
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Diglycerides Group C |
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ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CHPT1 30 31 |
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OneToOne | |
Cow (Bos Taurus) |
Mammalia | CHPT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CHPT1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Chpt1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Chpt1 30 |
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Platypus (Ornithorhynchus anatinus) |
Mammalia | CHPT1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CHPT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CHPT1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CHPT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chpt1 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | chpt1 30 31 |
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OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6016 32 |
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bbc 31 |
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OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | cept-1 31 |
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ManyToMany | |
Y49A3A.1 32 |
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cept-2 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CPT1 31 |
|
ManyToMany | |
EPT1 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
674250 | Likely Benign: not provided | 101,749,430(+) | A/G | INTRON_VARIANT | |
747107 | Likely Benign: Mucolipidosis type II; Pseudo-Hurler polydystrophy | 101,747,248(+) | G/A | INTRON_VARIANT | |
749475 | Likely Benign: Mucolipidosis type II; Pseudo-Hurler polydystrophy | 101,749,091(+) | TA/T | INTRON_VARIANT | |
780150 | Benign: not provided | 101,726,374(+) | C/T | SYNONYMOUS_VARIANT | |
782716 | Benign: not provided | 101,723,803(+) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2834n54 | CNV | loss | 21841781 |
dgv2835n54 | CNV | loss | 21841781 |
dgv2836n54 | CNV | loss | 21841781 |
dgv2837n54 | CNV | loss | 21841781 |
dgv2838n54 | CNV | loss | 21841781 |
dgv308n67 | CNV | loss | 20364138 |
dgv87e215 | CNV | deletion | 23714750 |
esv21962 | CNV | loss | 19812545 |
esv2566252 | CNV | deletion | 19546169 |
esv2664879 | CNV | deletion | 23128226 |
esv2746280 | CNV | deletion | 23290073 |
esv3630579 | CNV | loss | 21293372 |
esv9053 | CNV | loss | 19470904 |
nsv1069479 | CNV | deletion | 25765185 |
nsv435634 | CNV | deletion | 17901297 |
nsv498804 | CNV | loss | 21111241 |
nsv514642 | CNV | loss | 21397061 |
nsv560006 | CNV | loss | 21841781 |
nsv560007 | CNV | loss | 21841781 |
nsv560014 | CNV | loss | 21841781 |
nsv560028 | CNV | loss | 21841781 |
nsv826502 | CNV | loss | 20364138 |
nsv832497 | CNV | gain | 17160897 |
nsv859 | CNV | deletion | 18451855 |
nsv860 | CNV | deletion | 18451855 |
nsv977144 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
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spermatogenic failure 4 |
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mucolipidosis |
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newborn respiratory distress syndrome |
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