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FLASH GENE

Symbol

RAI1

contributors: mct/pgu - updated : 16-03-2011

HGNC name	retinoic acid induced 1
HGNC id	9834

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DUP17P11 chromosome 17p proximal duplication (Potocki-Lupski syndrome) SMS Smith-Magenis syndrome
Location	17p11.2      Physical location : 17.584.786 - 17.714.763
Synonym symbol(s)	KIAA0292, KIAA1820, DKFZp434A139, MGC12824, SMCR, SMS

DNA

TYPE	functioning gene
STRUCTURE	130.08 kb     6 Exon(s)    single Copie(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site
motif	repetitive sequence   triplet
text structure	CAG repeat in the aminoterminus
	DNA binding motifs

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see SMS SMS (phenotype)

regionally located

within the Smith-Magenis critical region

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed RAI1-V1 - - 5966 203 1640 - 2001 11404004 RAI1-V3 - splicing 6138 - 214 - 2001 11404004 RAI1-c 3 splicing 3166 106 966 - 2010 20663924 unique alternatively spliced region present in isoform c does not contain the domains required for nuclear localization and thus, should not affect transcription, and is not in the nucleus likely plays a role elsewhere in the cell NM_030665 6 splicing 7663 203.4 1906 - 2003 12837267 GT1 C-terminal variant localizes to the nucleus

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic thymus       highly Cardiovascular heart         Endocrine pancreas       highly Nervous brain       highly   spinal cord         Reproductive female system ovary     highly Respiratory lung       moderately Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Lymphoid         Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	liver, brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	amino-terminal CAG repeat coding for a polyglutamine stretch
	polyserine signal at the carboxy terminal end
	a putative bipartite nuclear localization signal and predicted N-glycosylation sites
	a DNA-binding domain
	a zinc-finger-like PHD domain at the C-terminus

HOMOLOGY

interspecies

homolog to murine gene Rai1

intraspecies

homolog to TCF20

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	involved in the control of early neural differentiation
	involved in transcriptional control through a multi-protein complex during the development
	functioning as a transcriptional regulator, and important for embryonic and postnatal developments
	dosage-sensitive transcription factor affecting multiple molecular pathways, thus contributing to the complexity of the phenotypes associated with altered gene dosage
	bind nucleosomes and having low nuclear mobility, suggesting its ability modify chromatin and regulate gene expression
	a positive regulator of CLOCK and an important part of the
	circadian loop of transcription

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	DNA binding

RNA

small molecule

protein	with other DNA binding proteins
	directly regulates the expression of BDNF
	regulates the transcription of circadian locomotor output cycles kaput (CLOCK), a key component of the mammalian circadian oscillator that transcriptionally regulates many critical circadian genes

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SMS , DUP17P11

Susceptibility

to schizophrenia

Variant & Polymorphism repeat	CAG repeat length associated with susceptibility to schizophrenia, maybe correlated with the age of onset in SCA2

Candidate gene	directly regulate circadian rhythms
Marker
Therapy target

ANIMAL & CELL MODELS

Rai1 haploinsufficiency represents a single-gene model of obesity with hyperphagia, abnormal fat distribution and altered hypothalamic gene expression associated with satiety, food intake, behavior and obesity