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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 ass... See more...
Aliases for RAI1 Gene
Aliases for RAI1 Gene
External Ids for RAI1 Gene
- HGNC: 9834
- NCBI Entrez Gene: 10743
- Ensembl: ENSG00000108557
- OMIM®: 607642
- UniProtKB/Swiss-Prot: Q7Z5J4
Previous HGNC Symbols for RAI1 Gene
- SMCR
Previous GeneCards Identifiers for RAI1 Gene
- GC17P017899
- GC17P018957
- GC17P017527
- GC17P017785
- GC17P017525
- GC17P017379
Summaries for RAI1 Gene
-
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]
GeneCards Summary for RAI1 Gene
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.
UniProtKB/Swiss-Prot Summary for RAI1 Gene
-
Transcriptional regulator of the circadian clock components: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation.
Additional gene information for RAI1 Gene
- HGNC (9834)
- NCBI Entrez Gene (10743)
- Ensembl (ENSG00000108557)
- OMIM® (607642)
- UniProtKB/Swiss-Prot (Q7Z5J4)
- Open Targets Platform(ENSG00000108557)
- Monarch Initiative
- Search for RAI1 at DataMed
- Search for RAI1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAI1 Gene
Genomics for RAI1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RAI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RAI1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAI1
- Top Transcription factor binding sites by QIAGEN in the RAI1 gene promoter:
-
- MAZR
- NF-kappaB
- NF-kappaB1
- Pax-5
- SREBP-1a
- SREBP-1b
- SREBP-1c
Genomic Locations for RAI1 Gene
Latest Assembly
- chr17:17,681,376-17,811,453
- (GRCh38/hg38)
- Size:
- 130,078 bases
- Orientation:
- Plus strand
Previous Assembly
- chr17:17,584,772-17,714,767
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 129,996 bases
- Orientation:
- Plus strand
- chr17:17,584,787-17,714,767
- (GRCh37/hg19 by Ensembl)
- Size:
- 129,981 bases
- Orientation:
- Plus strand
Genomic View for RAI1 Gene
Genes around RAI1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17p11.2 by HGNC
- 17p11.2 by Entrez Gene
- 17p11.2 by Ensembl
RAI1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RAI1 Gene
Proteins for RAI1 Gene
-
Protein details for RAI1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q7Z5J4-RAI1_HUMAN
- Recommended name:
- Retinoic acid-induced protein 1
- Protein Accession:
- Q7Z5J4
- Q8N3B4
- Q8ND08
- Q8WU64
- Q96JK5
- Q9H1C1
- Q9H1C2
- Q9UF69
Protein attributes for RAI1 Gene
- Size:
- 1906 amino acids
- Molecular mass:
- 203352 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAB47449.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for RAI1 Gene
Post-translational modifications for RAI1 Gene
Other Protein References for RAI1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for RAI1
-
Abcam antibodies for RAI1
- Invitrogen Antibodies for RAI1 (AFLGC-RAI1)
-
Biorbyt antibodies for RAI1
-
Santa Cruz Biotechnology (SCBT) Antibodies for RAI1
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for RAI1
- Origene Custom Protein Services for RAI1
- Novus Biologicals proteins for RAI1
- antibodies-online: Show 4 available RAI1 Proteins ranked by validation data
- Compare Top RAI1 Proteins
-
Quality Products:
-
Abcam proteins for RAI1
Assay products for research
- antibodies-online: Search results for available RAI1 related products ranked by validation data
No data available for DME Specific Peptides for RAI1 Gene
Domains & Families for RAI1 Gene
Gene Families for RAI1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for RAI1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for RAI1 Gene
- GenScript: Design optimal peptide antigens:
-
- Retinoic acid-induced protein 1 (RAI1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RAI1 Gene
Function for RAI1 Gene
Molecular function for RAI1 Gene
- UniProtKB/Swiss-Prot Function:
- Transcriptional regulator of the circadian clock components: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation.
- GENATLAS Biochemistry:
- retinoic acid induced gene 1,homolog of murine gene,expressed in brain,involved in the control of early neural differentiation
Phenotypes From GWAS Catalog for RAI1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for RAI1 Gene
- MGI mutant phenotypes for RAI1:
-
inferred from 3 alleles
- normal phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- behavior/neurological phenotype
- respiratory system phenotype
- mortality/aging
- endocrine/exocrine gland phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for RAI1:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RAI1 - Starting at $85 >
- * RAI1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RAI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RAI1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAI1
miRNA for RAI1 Gene
- miRTarBase miRNAs that target RAI1
-
- hsa-miR-744-5p (MIRT037657)
- hsa-miR-769-3p (MIRT039088)
- hsa-miR-504-5p (MIRT041078)
- hsa-let-7b-5p (MIRT052256)
- hsa-miR-3687 (MIRT052878)
- hsa-miR-190a-3p (MIRT144806)
- hsa-miR-374a-5p (MIRT144808)
- hsa-miR-4704-5p (MIRT144843)
- hsa-miR-4789-5p (MIRT144846)
- hsa-miR-5007-3p (MIRT144848)
- hsa-miR-5011-5p (MIRT144849)
- hsa-miR-7150 (MIRT469606)
- hsa-miR-8052 (MIRT469607)
- hsa-miR-3199 (MIRT469608)
- hsa-miR-4736 (MIRT469609)
- hsa-miR-4763-3p (MIRT469610)
- hsa-miR-1207-5p (MIRT469611)
- hsa-miR-4515 (MIRT469612)
- hsa-miR-184 (MIRT469613)
- hsa-miR-5004-5p (MIRT469614)
- hsa-miR-6868-5p (MIRT469615)
- hsa-miR-4462 (MIRT469616)
- hsa-miR-211-3p (MIRT469617)
- hsa-miR-3937 (MIRT469618)
- hsa-miR-1197 (MIRT469619)
- hsa-miR-3924 (MIRT516899)
- hsa-miR-656-3p (MIRT516900)
- hsa-miR-5580-3p (MIRT516901)
- mmu-miR-468-3p (MIRT581461)
- mmu-miR-679-5p (MIRT581462)
- mmu-miR-466n-3p (MIRT589119)
- mmu-miR-669m-3p (MIRT589120)
- mmu-miR-466e-3p (MIRT589121)
- mmu-miR-466d-3p (MIRT589122)
- mmu-miR-466a-3p (MIRT589123)
- mmu-miR-297b-3p (MIRT589124)
- mmu-miR-467g (MIRT589125)
- mmu-miR-669f-3p (MIRT589126)
- mmu-miR-466f-3p (MIRT589127)
- mmu-miR-467f (MIRT589128)
- hsa-miR-6749-3p (MIRT706792)
- hsa-miR-4303 (MIRT706793)
- hsa-miR-128-2-5p (MIRT706794)
- hsa-miR-128-1-5p (MIRT706795)
- hsa-miR-6751-3p (MIRT706796)
- hsa-miR-1199-5p (MIRT706797)
- hsa-miR-150-5p (MIRT706798)
- hsa-miR-4532 (MIRT706799)
- hsa-miR-6784-5p (MIRT706800)
- hsa-miR-106a-3p (MIRT783052)
- hsa-miR-1225-3p (MIRT783144)
- hsa-miR-1233-3p (MIRT783184)
- hsa-miR-2681-5p (MIRT784345)
- hsa-miR-4427 (MIRT785829)
- hsa-miR-452-5p (MIRT786165)
- hsa-miR-4676-3p (MIRT786383)
- hsa-miR-4680-3p (MIRT786399)
- hsa-miR-4762-3p (MIRT786649)
- hsa-miR-5187-3p (MIRT787185)
- hsa-miR-892c-3p (MIRT789925)
- hsa-miR-943 (MIRT790011)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RAI1
- Browse OriGene Inhibitory RNA Products For RAI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAI1
Clone products for research
- Applied Biological Materials (abm): Clones for RAI1 - Starting at $45 >
- * RAI1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RAI1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RAI1
Cell Lines for research
-
Horizon Cell Lines for RAI1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RAI1 Gene
Localization for RAI1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RAI1 Gene
- Cytoplasm. Nucleus. Note=In neurons, localized to neurites. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| mitochondrion | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| lysosome | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for RAI1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
.68
|
|
| 2 | Circadian rythm related genes | ||
Pathways by source for RAI1 Gene
1 BioSystems pathway for RAI1 Gene
1 Reactome pathway for RAI1 Gene
Interacting Proteins for RAI1 Gene
Selected Interacting proteins:
Q7Z5J4-RAI1_HUMAN
ENSP00000323074
for RAI1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RAI1
| 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 |
No data available for SIGNOR curated interactions for RAI1 Gene
Transcripts for RAI1 Gene
mRNA/cDNA for RAI1 Gene
- 1 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000353383 7677 nts (view in UCSC)
- ENST00000395774 2928 nts (view in UCSC)
- ENST00000471135 570 nts (view in UCSC)
- ENST00000489697 1570 nts (view in UCSC)
- ENST00000582514 878 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RAI1 - Starting at $85 >
- * RAI1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RAI1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RAI1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAI1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RAI1
- Browse OriGene Inhibitory RNA Products For RAI1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAI1
Clone products for research
- Applied Biological Materials (abm): Clones for RAI1 - Starting at $45 >
- * RAI1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RAI1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RAI1
Relevant External Links for RAI1 Gene
- GeneLoc Exon Structure for
- RAI1
Expression for RAI1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Ectoderm (Nervous System)
- Neural Tube (Nervous System)
This gene is overexpressed in Cerebrospinal fluid (60.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAI1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAI1
SOURCE GeneReport for Unigene cluster for RAI1 Gene:
Hs.655395mRNA Expression by UniProt/SwissProt for RAI1 Gene:
Q7Z5J4-RAI1_HUMAN
Tissue specificity:
Expressed in all tissues examined with higher expression in the heart and brain. No expression was seen in the corpus callosum of the brain.
Evidence on tissue expression from TISSUES for RAI1 Gene
- Nervous system(4.4)
- Muscle(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RAI1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- pharynx
- skull
- tongue
- tooth
- vocal cord
Thorax:
- bronchus
- esophagus
- heart
- lung
- rib
- rib cage
- trachea
Abdomen:
- duodenum
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
Pelvis:
- pelvis
- rectum
Limb:
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer products for research
-
OriGene qPCR primer pairs for RAI1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for RAI1 Gene
Orthologs for RAI1 Gene
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 |
- Species where no ortholog for RAI1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for RAI1 Gene
- ENSEMBL:
- Gene Tree for RAI1 (if available)
- TreeFam:
- Gene Tree for RAI1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RAI1: view image
Paralogs for RAI1 Gene
Variants for RAI1 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for RAI1 Gene
- RAI1_HUMAN-Q7Z5J4
- The poly-Gln tract is polymorphic and the number of Gln varies from 12 to 14 (PubMed:11404004). The size of the poly-Gln region may influence the age at onset of spinocerebellar ataxia type 2 (SCA2) (PubMed:10915763).
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAI1 Gene
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
Residual Variation Intolerance Score:
1.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.23;
52.51% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RAI1 Gene
SNP Genotyping and Copy Number Assays for research
Disorders for RAI1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| smith-magenis syndrome |
|
|
| deafness, autosomal recessive 9 |
|
|
| otof-related deafness |
|
|
| disease of mental health |
|
|
| alacrima, achalasia, and mental retardation syndrome |
|
Search RAI1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
RAI1_HUMAN- Smith-Magenis syndrome (SMS) [MIM:182290]: Characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. {ECO:0000269 PubMed:11404004, ECO:0000269 PubMed:12652298, ECO:0000269 PubMed:24863970}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for RAI1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for RAI1 Gene
Publications for RAI1 Gene
- Mutations in RAI1 associated with Smith-Magenis syndrome. (PMID: 12652298) Slager RE … Elsea SH (Nature genetics 2003) 3 4 74
- Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. (PMID: 22578325) Williams SR … Elsea SH (American journal of human genetics 2012) 3 4
- Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (PMID: 21738487) Do CB … Eriksson N (PLoS genetics 2011) 3 41
- Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41
- Polymorphisms in RAI and in genes of nucleotide and base excision repair are not associated with risk of testicular cancer. (PMID: 15885892) Laska MJ … Vogel U (Cancer letters 2005) 3 41
ExternalLinks
Products for RAI1 Gene
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- Invitrogen Antibodies for RAI1 (AFLGC-RAI1)
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- VectorBuilder Stable cell line generation for RAI1
- antibodies-online: Show 12 available RAI1 Antibodies ranked by validation data
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- antibodies-online: Show 4 available RAI1 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for RAI1
- Search Santa Cruz Biotechnology (SCBT) for RAI1 siRNA/shRNA
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- Browse GeneCopoeia Cell Lines
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- Biorbyt antibodies for RAI1
Sources for RAI1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
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- (114) NINDS
- (115) NCBI Bookshelf
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- (117) Gene Damage Index
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- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
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- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
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- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
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- (148) RNAcentral
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- (151) miR2Disease
- (152) DiseaseEnhancer
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- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
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- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB