NEFL - neurofilament light chain Gene
Also Known as NFL; NF-L; NF68; CMT1F; CMT2E; CMTDIG; PPP1R110
Species: Homo sapiens
About NEFL
This gene has 2 transcripts (splice variants), 268 orthologues, 68 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 94.3) and adrenal (RPKM 9.8).
Summary
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
NEFL Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_006158.5 | NP_006149.2 | neurofilament light polypeptide |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
12432080 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12226091 | GOA |
| enables structural constituent of cytoskeleton |
IDA
IDA: Inferred from direct assay
|
12432080 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in anterograde axonal transport |
IMP
IMP: Inferred from mutant phenotype
|
15857389 | GOA |
| involved in axonal transport of mitochondrion |
IMP
IMP: Inferred from mutant phenotype
|
15857389 | GOA |
| involved in intermediate filament organization |
IMP
IMP: Inferred from mutant phenotype
|
12432080 | GOA |
| involved in neurofilament bundle assembly |
IDA
IDA: Inferred from direct assay
|
12432080 | GOA |
| involved in neurofilament bundle assembly |
IMP
IMP: Inferred from mutant phenotype
|
15857389 | GOA |
| involved in retrograde axonal transport |
IMP
IMP: Inferred from mutant phenotype
|
15857389 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in axon |
IDA
IDA: Inferred from direct assay
|
14662745 | GOA |
| located in neurofilament |
IDA
IDA: Inferred from direct assay
|
15857389 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
neurofilament light polypeptide |
|
NEFL Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NEFL | P07196 | DES | Homo sapiens | P17661 | 26871637 | |
|
Intra
|
NEFL | P07196 | DES | Homo sapiens | P17661 | 26871637 | |
|
Intra
|
NEFL | P07196 | DES | Homo sapiens | P17661 | 32296183 | |
|
Intra
|
NEFL | P07196 | DES | Homo sapiens | P17661 | 26871637 | |
|
Intra
|
NEFL | P07196 | CCDC13 | Homo sapiens | Q8IYE1 | 32296183 | |
|
Intra
|
NEFL | P07196 | KLC3 | Homo sapiens | Q6P597-2 | 26871637 | |
|
Intra
|
NEFL | P07196 | KLC3 | Homo sapiens | Q6P597-2 | 26871637 | |
|
Intra
|
NEFL | P07196 | KLC3 | Homo sapiens | Q6P597-2 | 26871637 | |
|
Intra
|
NEFL | P07196 | NEFM | Homo sapiens | P07197 | 32296183 | |
|
Intra
|
NEFL | P07196 | NEK6 | Homo sapiens | Q9HC98-4 | 32296183 | |
|
Intra
|
NEFL | P07196 | KRT13 | Homo sapiens | P13646 | 26871637 | |
|
Intra
|
NEFL | P07196 | KRT13 | Homo sapiens | P13646 | 26871637 | |
|
Intra
|
NEFL | P07196 | KRT13 | Homo sapiens | P13646 | 26871637 | |
|
Intra
|
NEFL | P07196 | CEP57L1 | Homo sapiens | Q6P2R3 | 26871637 | |
|
Intra
|
NEFL | P07196 | CEP57L1 | Homo sapiens | Q6P2R3 | 26871637 | |
|
Intra
|
NEFL | P07196 | CEP57L1 | Homo sapiens | Q6P2R3 | 26871637 | |
|
Intra
|
NEFL | P07196 | KIFC3 | Homo sapiens | Q9BVG8-5 | 26871637 | |
|
Intra
|
NEFL | P07196 | KIFC3 | Homo sapiens | Q9BVG8-5 | 26871637 | |
|
Intra
|
NEFL | P07196 | KIFC3 | Homo sapiens | Q9BVG8-5 | 26871637 | |
|
Intra
|
NEFL | P07196 | CCDC172 | Homo sapiens | P0C7W6 | 26871637 | |
|
Intra
|
NEFL | P07196 | CCDC172 | Homo sapiens | P0C7W6 | 26871637 | |
|
Intra
|
NEFL | P07196 | CCDC172 | Homo sapiens | P0C7W6 | 26871637 | |
|
Intra
|
NEFL | P07196 | PPP1R18 | Homo sapiens | Q6NYC8 | 25416956 | |
|
Intra
|
NEFL | P07196 | GORASP1 | Homo sapiens | Q9BQQ3 | 26871637 | |
|
Intra
|
NEFL | P07196 | GORASP1 | Homo sapiens | Q9BQQ3 | 26871637 | |
|
Intra
|
NEFL | P07196 | GORASP1 | Homo sapiens | Q9BQQ3 | 26871637 | |
|
Intra
|
NEFL | P07196 | SKIL | Homo sapiens | P12757 | 26871637 | |
|
Intra
|
NEFL | P07196 | SKIL | Homo sapiens | P12757 | 26871637 | |
|
Intra
|
NEFL | P07196 | SKIL | Homo sapiens | P12757 | 26871637 | |
|
Intra
|
NEFL | P07196 | KRT18 | Homo sapiens | P05783 | 26871637 | |
|
Intra
|
NEFL | P07196 | KRT18 | Homo sapiens | P05783 | 26871637 | |
|
Intra
|
NEFL | P07196 | KRT18 | Homo sapiens | P05783 | 26871637 | |
|
Intra
|
NEFL | P07196 | PKN1 | Homo sapiens | Q16512 | 32296183 | |
|
Intra
|
NEFL | P07196 | GOLGA2 | Homo sapiens | Q08379 | 26871637 | |
|
Intra
|
NEFL | P07196 | GOLGA2 | Homo sapiens | Q08379 | 26871637 | |
|
Intra
|
NEFL | P07196 | GOLGA2 | Homo sapiens | Q08379 | 26871637 | |
|
Intra
|
NEFL | P07196 | TERF1 | Homo sapiens | P54274 | 21044950 | |
|
Intra
|
NEFL | P07196 | TERF1 | Homo sapiens | P54274 | 21044950 | |
|
Intra
|
NEFL | P07196 | KRT15 | Homo sapiens | P19012 | 26871637 | |
|
Intra
|
NEFL | P07196 | KRT15 | Homo sapiens | P19012 | 26871637 | |
|
Intra
|
NEFL | P07196 | KRT15 | Homo sapiens | P19012 | 26871637 | |
|
Intra
|
NEFL | P07196 | GFAP | Homo sapiens | P14136 | 26871637 | |
|
Intra
|
NEFL | P07196 | GFAP | Homo sapiens | P14136 | 32296183 | |
|
Intra
|
NEFL | P07196 | GFAP | Homo sapiens | P14136 | 26871637 | |
|
Intra
|
NEFL | P07196 | GFAP | Homo sapiens | P14136 | 26871637 | |
|
Intra
|
NEFL | P07196 | NME7 | Homo sapiens | Q9Y5B8 | 32296183 | |
|
Intra
|
NEFL | P07196 | SMYD1 | Homo sapiens | Q8NB12 | 32296183 | |
|
Cross
|
NEFL | P07196 | tax | Human T-cell leukemia virus 1 | P14079 | 22458338 | |
|
Cross
|
NEFL | P07196 | tax | Human T-cell leukemia virus 1 | P14079 | 22458338 |
Recombinant NEFL Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72265 | Neurofilament light polypeptide/NEFL, Human (His-SUMO, myc) | P07196 (S2-D543) | ≥ 90%, as determined by reducing SDS-PAGE. |
NEFL Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81680 | NEFL Antibody (YA1425) | WB, IHC-P, FC, ELISA | Human |
| HY-P83981 | Neurofilament/NF-L Antibody (YA3678) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P83981A | Neurofilament/NF-L Antibody (YA3678)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P83982 | Neurofilament/NF-L Antibody (YA3679) | WB, IHC-P, FC, ELISA | Human, Mouse, Rat, Rabbit |
| HY-P83982A | Neurofilament/NF-L Antibody (YA3679)(PBS only) | WB, IHC-P, FC, ELISA | Human, Mouse, Rat, Rabbit |
| HY-P85944 | Neurofilament/NF-L Antibody (YA5636) | IHC-P, WB, ICC/IF, ELISA | Human, Mouse, Rat |
| HY-P86702 | Neurofilament/NF-L Antibody (YA6394) | WB, IHC-P, IHC-F, IF-Tissue | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1f |
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Peripheral Nervous System Disease |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Tooth Disease |
|
|
| Supranuclear Palsy, Progressive, 1 |
|
|
| Vascular Dementia |
|
|
| Lateral Sclerosis |
|
|
| Sensorineural Hearing Loss |
|
|
| Axonal Neuropathy |
|
|
| Aphasia |
|
|
| Neuromyelitis Optica |
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
|
| Subjective Cognitive Decline |
|
|
| Neuropathy |
|
|
| Communicating Hydrocephalus |
|
|
| Abcd Syndrome |
|
|
| Motor Neuron Disease |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2f |
|
|
| Frontotemporal Dementia |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2l |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2cc |
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
|
| Primary Progressive Multiple Sclerosis |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
|
|
| Normal Pressure Hydrocephalus |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Speech And Communication Disorders |
|
|
| Asymptomatic Neurosyphilis |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2j |
|
|
| Tertiary Neurosyphilis |
|
|
| Mild Cognitive Impairment |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2i |
|
|
| Multiple Sclerosis |
|
|
| Acute Necrotizing Encephalitis |
|
|
| Chiasmal Syndrome |
|
|
| Akinetic Mutism |
|
|
| Plexopathy |
|
|
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
|
| Leukodystrophy |
|
|
| Motor Peripheral Neuropathy |
|
|
| Secondary Progressive Multiple Sclerosis |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
|
|
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
|
| Dementia |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2d |
|
|
| Charcot-Marie-Tooth Disease Type X |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
|
|
| Charcot-Marie-Tooth Disease, Type 4c |
|
|
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b |
|
|
| Progressive Muscular Atrophy |
|
|
| Branch Retinal Artery Occlusion |
|
|
| Autoimmune Disease Of Central Nervous System |
|
|
| Acute Disseminated Encephalomyelitis |
|
|
| Critical Illness Polyneuropathy |
|
|
| Dementia, Lewy Body |
|
|
| Arachnoiditis |
|
|
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
|
| Autoimmune Disease Of Peripheral Nervous System |
|
|
| Demyelinating Polyneuropathy |
|
|
| Inflammatory And Toxic Neuropathy |
|
|
| Multiple System Atrophy 1 |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b2 |
|
|
| Cranial Nerve Disease |
|
|
| Charcot-Marie-Tooth Disease, Type 4b2 |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
|
| Optic Nerve Disease |
|
|
| Short Syndrome |
|
|
| Tremor, Hereditary Essential, 2 |
|
|
| Cerebral Degeneration |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Demyelinating Disease |
|
|
| Neuromuscular Disease |
|
|
| Movement Disease |
|
|
| Giant Axonal Neuropathy 2 |
|
|
| Autism Spectrum Disorder |
|
|
| Schizophrenia |
|
|
| Pick Disease Of Brain |
|
|
| Autism |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Intracranial Berry Aneurysm |
|
|
| Nervous System Disease |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | NEFL | VGNC | VGNC:68455 |
| Canis familiaris | NEFL | VGNC | VGNC:43724 |
| Bos taurus | NEFL | VGNC | VGNC:31986 |
| Mus musculus | NEFL | MGD | MGI:97313 |
| Macaca mulatta | NEFL | VGNC | VGNC:75307 |
| Rattus norvegicus | NEFL | RGD | RGD:621458 |
| Others | NEFL | NCBI |