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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 Deafness, Autosomal Recessive 9. 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:0005515 | protein binding | IPI | 16189514 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
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,IBA | 21873635 |
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 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAI1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAI1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAI1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rai1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rai1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAI1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RAI1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAI1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RAI1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rai1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | RAI1 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5098 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
870996 | Pathogenic: not provided | 17,793,795(+) |
C/T NM_030665.4(RAI1):c.847C>T (p.Gln283Ter) |
NONSENSE | |
870997 | Pathogenic: not provided | 17,794,344(+) |
AAGAACCTCGTGTCC/
NM_030665.4(RAI1):c.1399_1412del (p.Asn467fs) |
FRAMESHIFT | |
870998 | Uncertain Significance: not provided | 17,795,657(+) |
G/C NM_030665.4(RAI1):c.2709G>C (p.Glu903Asp) |
MISSENSE | |
870999 | Uncertain Significance: not provided | 17,797,884(+) |
G/A NM_030665.4(RAI1):c.4936G>A (p.Gly1646Arg) |
MISSENSE | |
930437 | Uncertain Significance: Smith-Magenis syndrome | 17,793,567(+) |
A/T NM_030665.4(RAI1):c.619A>T (p.Thr207Ser) |
MISSENSE |
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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deafness, autosomal recessive 9 |
|
|
otof-related deafness |
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disease of mental health |
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alacrima, achalasia, and mental retardation syndrome |
|