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The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
SLC6A8 (Solute Carrier Family 6 Member 8) is a Protein Coding gene. Diseases associated with SLC6A8 include Cerebral Creatine Deficiency Syndrome 1 and Cerebral Creatine Deficiency Syndrome. Among its related pathways are NRF2 pathway and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include neurotransmitter:sodium symporter activity and creatine:sodium symporter activity. An important paralog of this gene is ENSG00000273554.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005308 | creatine transmembrane transporter activity | NAS | 8661037 |
GO:0005309 | creatine:sodium symporter activity | TAS,IEA | -- |
GO:0005328 | neurotransmitter:sodium symporter activity | IEA | -- |
GO:0005332 | gamma-aminobutyric acid:sodium symporter activity | IBA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA,TAS | 7953292 |
GO:0043005 | neuron projection | IBA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of activated PAK-2p34 by proteasome mediated degradation | ||
2 | Metabolism |
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3 | Viral mRNA Translation | ||
4 | NRF2 pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006600 | creatine metabolic process | TAS | -- |
GO:0006810 | transport | IBA | 21873635 |
GO:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | IEA | -- |
GO:0006836 | neurotransmitter transport | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC6A8 30 |
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Cow (Bos Taurus) |
Mammalia | SLC6A8 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc6a8 30 |
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Mouse (Mus musculus) |
Mammalia | Slc6a8 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC6A8 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SLC6A8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC6A8 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC6A8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100489909 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | slc6a8 30 31 |
|
OneToOne | |
Dr.16770 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG1732 31 32 |
|
OneToMany | |
CG5549 32 |
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ine 32 |
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CG3252 32 |
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CG10804 32 |
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BG:DS03431.1 32 |
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CG1698 32 |
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CG8850 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | snf-11 31 32 |
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OneToMany | |
snf-3 32 |
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snf-4 32 |
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snf-9 32 |
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snf-6 32 |
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snf-2 32 |
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snf-8 32 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4107 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
CSA.1853 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
633583 | Pathogenic: not provided | 153,693,287(+) | ATTTTC/A | FRAMESHIFT_VARIANT | |
635461 | Pathogenic: Creatine transporter deficiency | 153,691,534(+) | CCT/C | FRAMESHIFT_VARIANT | |
643295 | Uncertain Significance: Creatine transporter deficiency | 153,688,650(+) | G/A | MISSENSE_VARIANT | |
650071 | Uncertain Significance: Creatine transporter deficiency | 153,688,663(+) | C/T | MISSENSE_VARIANT | |
651752 | Pathogenic: Creatine transporter deficiency | 153,691,364(+) | T/TG | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1003299 | CNV | gain | 20482838 |
esv21656 | CNV | gain+loss | 19812545 |
esv33199 | CNV | gain+loss | 17666407 |
nsv1075343 | CNV | deletion | 25765185 |
nsv1122272 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cerebral creatine deficiency syndrome 1 |
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cerebral creatine deficiency syndrome |
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creatine deficiency syndromes |
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cerebral creatine deficiency syndrome 2 |
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cerebral creatine deficiency syndrome 3 |
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