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This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]
SEPHS1 (Selenophosphate Synthetase 1) is a Protein Coding gene. Diseases associated with SEPHS1 include Ivic Syndrome and Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension. Among its related pathways are Metabolism and Selenocompound metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is SEPHS2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004756 | selenide, water dikinase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 21516116 |
GO:0005524 | ATP binding | TAS,IEA | -- |
GO:0005525 | GTP binding | TAS | 7665581 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0031965 | nuclear membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism | ||
2 | Selenocompound metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006464 | cellular protein modification process | TAS | 7665581 |
GO:0016260 | selenocysteine biosynthetic process | IBA | 21873635 |
GO:0016310 | phosphorylation | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Hydrogen selenide |
|
7783-07-5 |
|
|||
Phosphoroselenoic acid |
|
25758-66-1 |
|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SEPHS1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SEPHS1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SEPHS1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sephs1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | SEPHS1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SEPHS1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sephs1 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SEPHS1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SEPHS1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sephs1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68922 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sephs1 30 31 |
|
OneToOne | |
wufc49b09 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | SelD 30 31 |
|
ManyToMany | |
Sps2 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007967 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | seld-1 30 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8569 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs117211901 | Benign: not provided | 13,344,754(-) |
C/T NM_012247.5(SEPHS1):c.193+4G>A |
INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv127n67 | CNV | gain | 20364138 |
esv1010238 | CNV | deletion | 20482838 |
esv2733373 | CNV | deletion | 23290073 |
esv2733384 | CNV | deletion | 23290073 |
esv3578645 | CNV | loss | 25503493 |
nsv1068281 | CNV | deletion | 25765185 |
nsv1143493 | CNV | deletion | 24896259 |
nsv831788 | CNV | loss | 17160897 |
nsv947742 | CNV | duplication | 23825009 |
nsv951251 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ivic syndrome |
|
|
ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension |
|
|