RAI1 - retinoic acid induced 1 Gene

Also Known as SMS; SMCR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10743

About RAI1

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,681,458-17,811,453 (from NCBI)

This gene has 6 transcripts (splice variants), 196 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in spleen (RPKM 5.1), endometrium (RPKM 4.9) and 25 other tissues.

Summary

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 Products (1)

mRNA	Protein	Name
NM_030665.4	NP_109590.3	retinoic acid-induced protein 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in circadian regulation of gene expression	IMP IMP: Inferred from mutant phenotype	22578325	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	22578325	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAI1 Protein Structure

zf-HC5HC2H

0
300
600
900
1200
1500
1800
1906 a.a.

Protein Preferred Names	Protein Names
retinoic acid-induced protein 1	Smith-Magenis syndrome chromosome region

RAI1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RAI1	Q7Z5J4	PIN1	Homo sapiens	Q13526	Y2H Array	25416956
Intra	RAI1	Q7Z5J4	PIN1	Homo sapiens	Q13526	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Smith-Magenis Syndrome	SMS Chromosome 17p11.2 Deletion Syndrome 17p11.2 Microdeletion Syndrome 17p11.2 Monosomy Chromosome 17p Deletion Syndrome Del(17) P11.2 17p- Syndrome Deletion 17p Syndrome Partial Monosomy 17p
Deafness, Autosomal Recessive 9	Auditory Neuropathy, Autosomal Recessive, 1 Neurosensory Nonsyndromic Recessive Deafness 9 DFNB9 Nsrd9 Autosomal Recessive Nonsyndromic Deafness 9 Autosomal Recessive Deafness 9 Nrsd9 AUNB1 Nonsyndromic Auditory Neuropathy Autosomal Recessive Nsran Deafness, Autosomal Recessive, 9 Deafness Neurosensory Autosomal Recessive 9 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 Non-Syndromic Recessive Hearing Loss 9 Deafness, Autosomal Recessive, Type 9 Auditory Neuropathy, Nonsyndromic Recessive
Otof-Related Deafness	Dfnb9 Dfnb9 Nonsyndromic Hearing Loss Deafness, Autosomal Recessive 9
Potocki-Lupski Syndrome	PTLS Chromosome 17p11.2 Duplication Syndrome 17p11.2 Microduplication Syndrome Duplication 17p11.2 Syndrome Trisomy 17p11.2 Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2)) 17p11.2 Duplication Syndrome Dup(17)(P11.2p11.2) Pls Chromosome 17, Trisomy 17p11 2
Yuan-Harel-Lupski Syndrome	Pmp22-Rai1 Contiguous Gene Duplication Syndrome YUHAL Yuhal Syndrome 17p11.2p12 Microduplication Syndrome Dup(17)(P11.2p12) Trisomy 17p11.2-P12 Trisomy 17p11.2p12
Tricuspid Valve Stenosis	Tricuspid Stenosis Tricuspid Stricture Tricuspid Valve Stricture Tricuspid Insufficiency With Obstruction Tricuspid Insufficiency With Stenosis
Chromosome 2q37 Deletion Syndrome	Albright Hereditary Osteodystrophy-Like Syndrome 2q37 Microdeletion Syndrome Brachydactyly-Intellectual Disability Syndrome Deletion 2q37 2q37 Deletion Syndrome Brachydactyly-Mental Retardation Syndrome Bdmr Albright Hereditary Osteodystrophy Type 3 Del(2)(Q37) Monosomy 2q37qter Albright'S Hereditary Osteodystrophy-Like Syndrome Monosomy 2q37 Chromosome Deletion Syndrome 2q37
Strabismic Amblyopia	Suppression Amblyopia Amblyopia Amblyopia, Suppression
Chromosomal Deletion Syndrome
Kleefstra Syndrome	9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q Deletion Syndrome 9q34.3 Deletion Syndrome 9qstds Chromosome 9q34.3 Deletion Syndrome Chromosome 9, Trisomy 9q
Ehlers-Danlos Syndrome, Classic Type, 1	Ehlers-Danlos Syndrome, Type I EDSCL1 Ehlers-Danlos Syndrome Classic Type 1 Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome, Type I, Formerly Eds1, Formerly Ehlers-Danlos Syndrome, Severe Classic Type, Formerly Eds I, Formerly Ehlers-Danlos Syndrome, Gravis Type, Formerly Ehlers-Danlos Syndrome, Type 1 Type I Ehlers-Danlos Syndrome Eds1 Eds I Ehlers-Danlos Syndrome, Gravis Type Ehlers-Danlos Syndrome, Severe Classic Type Ehlers-Danlos Syndrome 1 Ehlers-Danlos, Classic Syndrome, Type 1 Ehlers-Danlos Syndrome Type 2
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Testicular Cancer	Testis Cancer Testicular Carcinoma Testicular Neoplasms Malignant Neoplasm Of Testis Childhood Neoplasm Of The Testis Neoplasm Of Testis Pediatric Testicular Neoplasm Testicular Tumor Testis Neoplasm Testicular Tumors Testicular Neoplasm Testicular Malignant Germ Cell Tumor Childhood Testicular Neoplasm Carcinoma Of The Testis Cancer Of Testis Malignant Neoplasm Of Testis, Nos Malignant Neoplasm Of Testis, Unspecified Malignant Tumour Of Testis Testicle Cancer Primary Malignant Neoplasm Of Testis
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS04079	DXO Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11624	RAI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RAI1	VGNC	VGNC:69224
Macaca mulatta	RAI1	VGNC	VGNC:76651
Mus musculus	RAI1	MGD	MGI:103291
Bos taurus	RAI1	VGNC	VGNC:33695
Canis familiaris	RAI1	VGNC	VGNC:45328
Rattus norvegicus	RAI1	RGD	RGD:1308500
Others	RAI1	NCBI