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SPNS1 (Sphingolipid Transporter 1 (Putative)) is a Protein Coding gene. Diseases associated with SPNS1 include Amelogenesis Imperfecta, Type Ig and 46,Xy Sex Reversal 2. Gene Ontology (GO) annotations related to this gene include transporter activity and sphingolipid transporter activity. An important paralog of this gene is SPNS2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 12815463 |
GO:0022857 | transmembrane transporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005743 | mitochondrial inner membrane | IEA | -- |
GO:0005765 | lysosomal membrane | HDA | 17897319 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006869 | lipid transport | IEA | -- |
GO:0055085 | transmembrane transport | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | · | 2f | · | 2g | · | 2h | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SPNS1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SPNS1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SPNS1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Spns1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Spns1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SPNS1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SPNS1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SPNS1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | spns1 30 |
|
||
Str.16886 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16646 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | spns1 30 31 |
|
OneToOne | |
spinl 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006346 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | spin 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | C13C4.5 30 |
|
||
spin-2 31 |
|
ManyToMany | |||
spin-1 31 |
|
ManyToMany | |||
spin-3 31 |
|
ManyToMany | |||
spin-4 31 |
|
ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G65687 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5353 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12624 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
775042 | Benign: not provided | 28,983,890(+) | C/T | SYNONYMOUS_VARIANT | |
rs17855956 | - | p.Ala230Pro |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2830n100 | CNV | gain | 25217958 |
dgv2831n100 | CNV | gain | 25217958 |
dgv4987n54 | CNV | gain | 21841781 |
esv2758640 | CNV | gain+loss | 17122850 |
esv3570454 | CNV | gain | 25503493 |
esv3582129 | CNV | loss | 25503493 |
esv3638351 | CNV | gain | 21293372 |
esv3892826 | CNV | gain+loss | 25118596 |
nsv1059555 | CNV | gain | 25217958 |
nsv457480 | CNV | gain | 19166990 |
nsv518648 | CNV | loss | 19592680 |
nsv519100 | CNV | gain | 19592680 |
nsv571805 | CNV | loss | 21841781 |
nsv571808 | CNV | gain | 21841781 |
nsv952964 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
amelogenesis imperfecta, type ig |
|
|
46,xy sex reversal 2 |
|
|
glycogen storage disease ia |
|
|
teeth hard tissue disease |
|
|
amelogenesis imperfecta |
|
|