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FLASH GENE

Symbol

ALX3

contributors: mct/npt - updated : 27/10/2008

HGNC name	aristaless-like homeobox 3
HGNC id	449

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	10.33 kb     4 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	promoter contains at least eight putative regulatory elements with an E-box consensus sequence, three of which were determined to be functional and required for Alx3 promoter activity

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006492 4 - 1478 NP_006483 - 343 - Perez-Villamil (2004)

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 intestine         Endocrine pancreas islet of Langerhans       Homo sapiens Nervous brain       predominantly Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous autonomous

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	embryonic development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two proline-rich domains located amino-terminal to the homeodomain (PRO1 and PRO2) are necessary for ALX3-dependent transactivation
	a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development

HOMOLOGY

interspecies

homolog to murine Alx3

Homologene

FAMILY

paired family of homeobox proteins

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	transcriptional regulator with a possible role in patterning of mesoderm during development
	participates in the regulation of insulin gene expression in pancreatic beta-cells
	exhibits cell-specific and selective monomeric binding and transactivation
	participates in the regulated expression of several islet genes, and its deficiency in mice leads to islet cell apoptosis and glucose intolerance

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

PDX1 contributes to the transcriptional transactivation of ALX3 in pancreatic beta-cells by acting in co-ordination with USF1 and USF2 (pMID: 25040025)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FND1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   by preferential methylation of the promoter, associated with advanced-stage neuroblastoma tumors

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS