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FLASH GENE

Symbol

MEOX1

contributors: mct/npt/pgu - updated : 15-02-2013

HGNC name	mesenchyme homeobox 1
HGNC id	7013

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	KFS2 Klippel-Feil syndrome
Location	17q21.31      Physical location : 41.717.766 - 41.739.262
Synonym name	mesenchyme homeo box 1
Synonym symbol(s)	MOX1, MOX-1

DNA

TYPE	functioning gene
STRUCTURE	21.51 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see BRCA1 BRCA1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004527 3 splicing 2330 NP_004518 - 254 - 1997 9373945 NM_013999 2 splicing 2150 NP_054705 - 184 - 1997 9373945 lacking exon 2 NM_001040002 4 - 2184 NP_001035091 - 139 - 1997 9373945

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	restricted exclusively to follicular cells in the innermost layer of the outer root sheath by 21 weeks of development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix, homeobox DNA binding domain

HOMOLOGY

interspecies

ortholog to murine Meox1

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing a role in mesoderm induction and its earliest regional specification, somitogenesis, and myogenic and sclerotomal differentiation
	activating NKX3-2 (activates the NKX3-2 promoter in a dose-dependent manner and this activity is enhanced in the presence of PAX11 and/or PAX9)
	required for NKX3-2 expression in the sclerotome
	play role with GLI2 in the commitment of cells to the skeletal muscle lineage
	part of a regulatory circuit that serves an essential, non-redundant function in the maintenance of rostro-caudal sclerotome polarity and axial skeleton formation
	MEOX1 can specifically bind the DNA sequences recognized by HOXA2 on its functional target genes
	MEOX1 and MEOX2 have been shown to be partially functionally redundant during development, suggesting that they regulate similar target genes

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein

regulates the MEOX2 target genes CDKN1A and CDKN2A

cell & other

REGULATION

Other

regulated by a regulatory loop between GLI2, MEOX1, and PAX3 that is essential for specification of mesodermal cells into the muscle lineage

ASSOCIATED DISORDERS

corresponding disease(s)

KFS2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS