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FLASH GENE

Symbol

NEFL

contributors: mct/pgu - updated : 23-04-2012

HGNC name	neurofilament, light polypeptide
HGNC id	7739

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	5.66 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	pter - NEFL - GTF2E2 - D8S137 - D8S131 - D8S339 - [D8S540 /PPP2CB ] - D8S124 - D8S278 - NRG1 - D8S259 - [D8S513 /D8S283 ] - D8S535 - D8S505 - D8S87 - ADRB3 ADRB3 - FGFR1 - D8S255 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006158 4 - 3602 NP_006149 61.5 543 - 2008 18023247

EXPRESSION

Type

widely

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 Hearing/Equilibrium ear       highly Nervous brain       highly Reproductive male system testis     highly Urinary kidney       highly Visual eye       highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a globular head domain important for the formation of filamentous network
	a central coiled coil rod region
	a C terminal globular tail domain

mono polymer

polymer

HOMOLOGY

Homologene

FAMILY

intermediate filament family, type IV

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION	neurofilament assembly and regulation of expression of other neurofilaments
	plays a pivotal function in the assembly and maintenance of axonal cytoskeleton. playing a a role in regulating neuronal development, specifically neurite outgrowth

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

light polypeptide constituent of neurofilament

INTERACTION

DNA

RNA

small molecule

protein	interacting with TSC1
	direct target of the inhibitor of histone acetyltransferase ANP32P
	interaction with TARDBP (stabilizes NEFL mRNA through a direct interaction with the 3'UTr)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2E , CMT1F

related resource

Mutation Database of Inherited Peripheral Neuropathies

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	hNF-LP22S;tTa transgenic (tg) mice recapitulated key features of CMT2E disease, including aberrant hindlimb posture, motor deficits, hypertrophy of muscle fibres and loss of muscle innervation without neuronal loss, and normal distribution of NF proteins along the sciatic nerve of hNF-LP22S; tTa mice was restored upon treatment with doxycycline
	hNF-LE397K mice display progressive muscle atrophy in hind limb muscles without denervation