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FLASH GENE

Symbol

OTX1

contributors: mct - updated : 14-05-2012

HGNC name	orthodenticle homolog 1 (Drosophila)
HGNC id	8521

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2p15      Physical location : 63.277.964 - 63.284.303
Synonym name	paired-like homeo domain encoding gene 1
Synonym symbol(s)	FLJ38361, MGC15736

DNA

TYPE	functioning gene
STRUCTURE	7.77 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014562 5 - 2872 NP_055377 - 354 - 1998 9843484 NM_001199770 5 - 2872 NP_001186699 - 354 - 1998 9843484

EXPRESSION

Type	restricted

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 Digestive esophagus         Nervous brain diencephalon       Homo sapiens Reproductive female system breast mammary gland     Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	pregnancy, embryo, developing brain of mouse
	fetal eye
	predominantly located in the proliferative zones of the neocortex

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an helix-turn-helix and paired DNA binding domains
	a bicoid-like homeodomain

HOMOLOGY

interspecies

homolog to Drosophila orthodenticle (otd)

Homologene

FAMILY

bicoid subfamily of homeodomain containing transcription factors

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	required for sense organ development
	required for the refinement of exuberant axonal projections to subcortical targets
	transcription factor with an essential role in the development of the cerebellum
	not crucial for the development of visual cortex identity but for the determination of the proportion of cortical areas to the whole neocortex
	may be important in ciliary body development
	involvement in B-cell lymphomagenesis
	involved in differentiation of young neurons of the deeper cortical layers
	OTX1 and OTX2 are important in neuronal cell development and differentiation: OTX1 primarily in the neocortex, and OTX2 in the archicortex, diencephalon, rostral brain stem, and cerebellum

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	involved in eye developement

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacting with TP53 (TP53 may regulate cellular differentiation by an alternative pathway controlling OTX1 signaling only in breast cancer cells and not in physiological conditions)

cell & other

REGULATION

induced by

TP53 (TP53 protein directly induces OTX1 expression by acting on its promoter)

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to autism spectrum disorders (ASD)

Variant & Polymorphism SNP	rs2018650 and rs13000344 were associated with ASD

Candidate gene
Marker	molecular marker for high-grade germinal-center B -derived Non-Hodgkin Lymphoma
Therapy target

ANIMAL & CELL MODELS