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This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]
RAI1 (Retinoic Acid Induced 1) is a Protein Coding gene. Diseases associated with RAI1 include Smith-Magenis Syndrome and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are BMAL1-CLOCK,NPAS2 activates circadian gene expression and Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include enhancer binding. An important paralog of this gene is TCF20.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003700 | DNA-binding transcription factor activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0035326 | enhancer binding | IDA | 22578325 |
GO:0044212 | transcription regulatory region DNA binding | IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
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2 | Circadian rythm related genes |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0032922 | circadian regulation of gene expression | IEA,IMP | 22578325 |
GO:0040015 | negative regulation of multicellular organism growth | IEA | -- |
GO:0045893 | positive regulation of transcription, DNA-templated | IDA | 22578325 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | RAI1 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | RAI1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | RAI1 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Rai1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Rai1 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | RAI1 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | RAI1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | RAI1 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | RAI1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | rai1 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | RAI1 33 |
|
OneToOne | |
fruit fly (Drosophila melanogaster) |
Insecta | CG5098 33 |
|
OneToMany |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1034894206 | likely-benign, History of neurodevelopmental disorder | 17,794,406(+) | C/T | coding_sequence_variant, synonymous_variant | |
rs1041313981 | uncertain-significance, History of neurodevelopmental disorder | 17,797,960(+) | A/C/G | coding_sequence_variant, missense_variant | |
rs104894633 | pathogenic, Smith-Magenis syndrome | 17,798,371(+) | G/A | coding_sequence_variant, missense_variant | |
rs104894634 | pathogenic, Smith-Magenis syndrome | 17,797,633(+) | A/C/G | coding_sequence_variant, missense_variant | |
rs1057519065 | uncertain-significance, Smith-Magenis syndrome | 17,794,696(+) | G/A | coding_sequence_variant, missense_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv894e212 | CNV | loss | 25503493 |
esv2659754 | CNV | deletion | 23128226 |
esv3640136 | CNV | loss | 21293372 |
nsv1072723 | CNV | deletion | 25765185 |
nsv1118747 | CNV | deletion | 24896259 |
nsv1131132 | CNV | deletion | 24896259 |
nsv1146061 | CNV | insertion | 26484159 |
nsv155 | OTHER | inversion | 15895083 |
nsv499114 | OTHER | inversion | 21111241 |
nsv522668 | CNV | loss | 19592680 |
nsv526904 | CNV | loss | 19592680 |
nsv817753 | CNV | loss | 17921354 |
nsv820244 | CNV | loss | 19587683 |
nsv827910 | CNV | gain | 20364138 |
nsv827911 | CNV | gain | 20364138 |
nsv833384 | CNV | loss | 17160897 |
nsv833385 | CNV | loss | 17160897 |
nsv9501 | CNV | gain | 18304495 |
nsv953838 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
smith-magenis syndrome |
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alacrima, achalasia, and mental retardation syndrome |
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potocki-lupski syndrome |
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yuan-harel-lupski syndrome |
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chromosomal duplication syndrome |
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