NEFL
entrez
4747
canonical
uniprot
P07196
canonical
ensembl
ENSG00000277586
resolver
ensp
ENSP00000482169
resolver
enst
ENST00000610854
resolver
genesymbol
NEFL
resolver
genesymbol_syn
NF68
resolver
genesymbol_syn
NFL
resolver
hgnc
HGNC:7739
resolver
uniprot
B9ZVN2
resolver
uniprot
Q16154
resolver
uniprot
Q8IU72
resolver
uniprot_entry
NFL_HUMAN
resolver
uniprot_sec
B9ZVN2
resolver
uniprot_sec
Q16154
resolver
uniprot_sec
Q8IU72
resolver
amino_acid_sequence
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSSSGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEAELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQALQGEREGLEETLRNLQARYEEEVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQYAQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRAAKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRTTKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFGRSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEEKDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAKKKD
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 1F (CMT1F) [MIM:607734]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years). {ECO:0000269|PubMed:12566280, ECO:0000269|PubMed:15241803}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 2E (CMT2E) [MIM:607684]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269|PubMed:10841809, ECO:0000269|PubMed:11220745, ECO:0000269|PubMed:12481988, ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:17052987, ECO:0000269|PubMed:22206013, ECO:0000269|PubMed:25802885}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, dominant intermediate G (CMTDIG) [MIM:617882]: An autosomal dominant, intermediate form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Dominant intermediate forms are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. CMTDIG is phenotypically variable. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. {ECO:0000269|PubMed:14733962, ECO:0000269|PubMed:17052987, ECO:0000269|PubMed:25877835, ECO:0000269|PubMed:26645395}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity). {ECO:0000250|UniProtKB:P08551}.
uniprot
proteins
mass_dalton
61517
uniprot
proteins
post_translational_modification
PTM: O-glycosylated. {ECO:0000250}.; PTM: Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization. {ECO:0000269|PubMed:8621664}.; PTM: Ubiquitinated in the presence of TRIM2 and UBE2D1. {ECO:0000250}.
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10841809
uniprot
proteins
pubmed
11220745
uniprot
proteins
pubmed
12432080
uniprot
proteins
pubmed
12481988
uniprot
proteins
pubmed
12566280
uniprot
proteins
pubmed
14733962
uniprot
proteins
pubmed
15241803
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17052987
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22206013
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
25802885
uniprot
proteins
pubmed
25877835
uniprot
proteins
pubmed
26645395
uniprot
proteins
pubmed
3034332
uniprot
proteins
pubmed
6135695
uniprot
proteins
pubmed
8180132
uniprot
proteins
pubmed
8621664
uniprot
proteins
sequence_length
543
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, axon {ECO:0000250|UniProtKB:P08551}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P08551}.
uniprot
proteins