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FLASH GENE

Symbol

FMN1

contributors: mct/npt - updated : 02-06-2021

HGNC name	formin (limb deformity)
HGNC id	3768

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	with several alternatively spliced isoforms in mouse - Wang

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001103184 17 - 12647 NP_001096654 - 1196 - 2018 29668357 NM_001277313 26 - 13511 NP_001264242 - 1419 - 2018 29668357 NM_001277314 5 - 3948 NP_001264243 - 662 - 2018 29668357

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 large intestine colon       intestine small intestine       Skin/Tegument skin

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	various tissues

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a characteristic domain (formin homology domain, FH1 and FH2)
	FMH1 domain (codon 1-120 of FMN1)
	FMH2 domain (codon 683-835 of FMN1)

conjugated

PhosphoP

HOMOLOGY

interspecies

homolog to murine formin limb deformity gene

Homologene

FAMILY	formin homology family
	cappuccino subfamily

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane,junction,adherens
	intracellular
	intracellular,nucleus

basic FUNCTION	plays a key role in limb morphogenesis
	intracellular actin nucleator implicated in limb development (Zhou 2009)
	may be playing a role in repression of BMP signaling (Zhou 2009)
	affects limb development in two ways, first, it harbors a control element that regulates the transcription of the GREM1 and second, because it codes for the cytoplasmic protein FMN1, which plays a role in the repression of BMP signaling (Zhou 2009)
	with DIAPH3 can help F-actin form highly elastic networks and mediate the formation of highly elastic F-actin networks as effectively and rapidly as alpha-actinin and filamin
	involvement of FMN1 in dendritogenesis and synaptogenesis,indicating that this protein is a key component of the NGN3 signaling pathway that controls neuronal differentiation
	is an actin-nucleating protein, implicated in actin assembly and intracellular signaling
	RHOA works in concert with FMN1 to control assembly of the specialized apical actin network in multiciliated epithelial cells (MCCs)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with Profilin, SRC, EMS1, FNBP1, FNBP2, FNBP3, FNBP4, WBP4 and alpha-catenin
	FLNB and FMN1 physically interact, are co-expressed in chondrocytes in the growth plate and share overlapping expression in the cell cytoplasm and nucleus
	FLNB and FMN1 regulate chondrocyte proliferation, and FLNB may regulate FMN1 function at the hypertrophic-to-ossification border, thereby explaining the overall delay in ossification

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mouse mutations in Fmn1 cause aberrant fusion of carpal digits