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FLASH GENE

Symbol

DLX1

contributors: mct/npt - updated : 10-01-2024

HGNC name	distal-less homeo box 1
HGNC id	2914

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL2Q31 chromosome 2q interstitial deletion, including 2q31.1
Location	2q31.1      Physical location : 172.950.207 - 172.954.399
Synonym symbol(s)	DLX

DNA

TYPE	functioning gene
STRUCTURE	4.17 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_178120 3 - 2356 NP_835221 27.2 255 - 2003 14671321 NM_001038493 2 - 2156 NP_001033582 13.4 129 - 2003 14671321

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	forebrain, facial and limb primordia

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix, DNA binding domain

HOMOLOGY

interspecies

homolog to Drosophila distal less Dlx1

Homologene

FAMILY

distal-less homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	likely playing a regulatory role in the development of the ventral forebrain
	RGS5 and DLX1 represent novel molecular targets for the regulation of ductus arteriosus (DA) maturation and closure
	DLX1/DLX2 homeobox genes regulate GABA synthesis during forebrain development through direct activation of glutamic acid decarboxylase enzyme isoforms that convert glutamate to GABA
	DLX1 and DLX2 promote interneuron GABA synthesis, synaptogenesis, and dendritogenesis
	DLX1 exerted the oncogenic roles on the prostate cancer by activating beta-catenin/TCF signaling

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	OLIG1 is an essential repressor of DLX1/DLX2 and interneuron production in developing mammalian brain
	DLX1 recruitment of SP7 to osteoblast enhancers underlies SP7-directed osteoblast specification
	DLX1 is identified as a potential downstream gene of SATB2 in regulating the development of arcuate nucleus (ARC) neurons
	DLX1 and DLX2 were reduced after SMG6 deletion

cell & other

REGULATION

activated by

MSX1 (strongly up-regulated the Delta-Notch pathway genes DLK1, NOTCH3, and HEY1) (Revet 2008)

ASSOCIATED DISORDERS

corresponding disease(s)

DEL2Q31

Susceptibility

to autism autism spectrum disorders

Variant & Polymorphism SNP	increasing the risk of autism spectrum disorders (Liu 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS