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The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]
SGMS1 (Sphingomyelin Synthase 1) is a Protein Coding gene. Diseases associated with SGMS1 include Aggressive Systemic Mastocytosis. Among its related pathways are Sphingolipid signaling pathway and Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF). Gene Ontology (GO) annotations related to this gene include kinase activity and ceramide cholinephosphotransferase activity. An important paralog of this gene is SGMS2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002950 | ceramide phosphoethanolamine synthase activity | IDA | 25605874 |
GO:0005515 | protein binding | IEA | -- |
GO:0016301 | kinase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0033188 | sphingomyelin synthase activity | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000138 | Golgi trans cisterna | IDA | 14685263 |
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005634 | nucleus | TAS | 14976195 |
GO:0005783 | endoplasmic reticulum | TAS | 14976195 |
GO:0005794 | Golgi apparatus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
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2 | Sphingolipid metabolism | ||
3 | Sphingolipid signaling pathway | ||
4 | Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF) |
Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)
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5 | IL2 signaling events mediated by PI3K |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006665 | sphingolipid metabolic process | IEA | -- |
GO:0006686 | sphingomyelin biosynthetic process | IBA,IDA | 14685263 |
GO:0006915 | apoptotic process | IEA | -- |
GO:0006954 | inflammatory response | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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Cer(d18:0/12:0) |
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Cer(d18:0/14:0) |
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Cer(d18:0/16:0) |
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Cer(d18:0/18:0) |
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Cer(d18:0/18:1(11Z)) |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SGMS1 30 31 |
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OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sgms1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sgms1 30 |
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Cow (Bos Taurus) |
Mammalia | SGMS1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SGMS1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SGMS1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SGMS1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SGMS1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SGMS1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sgms1 30 |
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Str.15768 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | SGMS1 (2 of 2) 31 |
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OneToMany | |
sgms1 30 31 |
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OneToMany | |||
wufi06d09 30 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008926 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | sms-1 30 |
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W07E6.3 31 |
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ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10588 31 |
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OneToMany |
Disorder | Aliases | PubMed IDs |
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aggressive systemic mastocytosis |
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