Seroatlas · Human Serome Atlas

NEFL

Neurofilament light polypeptide

Also known as: CMT1F, CMT2E, NF68, NFL, NFL_HUMAN, PPP1R110

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P07196
Gene
NEFL
Ensembl
ENSG00000277586
Chromosome
8
Canonical length
543 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Intermediate filaments,Midbody
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

543 residues, UniProt reviewed canonical sequence.

>P07196|NEFL
     1  MSSFSYEPYY STSYKRRYVE TPRVHISSVR SGYSTARSAY SSYSAPVSSS LSVRRSYSSS
    61  SGSLMPSLEN LDLSQVAAIS NDLKSIRTQE KAQLQDLNDR FASFIERVHE LEQQNKVLEA
   121  ELLVLRQKHS EPSRFRALYE QEIRDLRLAA EDATNEKQAL QGEREGLEET LRNLQARYEE
   181  EVLSREDAEG RLMEARKGAD EAALARAELE KRIDSLMDEI SFLKKVHEEE IAELQAQIQY
   241  AQISVEMDVT KPDLSAALKD IRAQYEKLAA KNMQNAEEWF KSRFTVLTES AAKNTDAVRA
   301  AKDEVSESRR LLKAKTLEIE ACRGMNEALE KQLQELEDKQ NADISAMQDT INKLENELRT
   361  TKSEMARYLK EYQDLLNVKM ALDIEIAAYR KLLEGEETRL SFTSVGSITS GYSQSSQVFG
   421  RSAYGGLQTS SYLMSTRSFP SYYTSHVQEE QIEVEETIEA AKAEEAKDEP PSEGEAEEEE
   481  KDKEEAEEEE AAEEEEAAKE ESEEAKEEEE GGEGEEGEET KEAEEEEKKV EGAGEEQAAK
   541  KKD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NEFL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.56
Highest tissue expression
299 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 299 nTPM
  • midbrain: 156 nTPM
  • hypothalamus: 116 nTPM
  • hippocampal formation: 96 nTPM
  • retina: 83 nTPM
  • amygdala: 81 nTPM

Single-cell type

  • other brain neurons: 114 nCPM
  • corticotrophs: 99 nCPM
  • retinal ganglion cells: 93 nCPM
  • brain excitatory neurons: 76 nCPM
  • brain inhibitory neurons: 53 nCPM
  • oocytes: 51 nCPM

Immune cell

  • memory CD4 T-cell: 11 nTPM
  • naive CD4 T-cell: 2.3 nTPM
  • total PBMC: 1.5 nTPM
  • memory CD8 T-cell: 1.2 nTPM
  • T-reg: 0.2 nTPM
  • gdT-cell: 0.1 nTPM

Brain region

  • cerebral cortex: 1,645 nTPM
  • medulla oblongata: 1,135 nTPM
  • pons: 788 nTPM
  • thalamus: 661 nTPM
  • white matter: 606 nTPM
  • cerebellum: 424 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NEFL.

Disease | AllUniProt

Conditions NEFL is implicated in, by any mechanism.

  • Charcot-Marie-Tooth disease, demyelinating, type 1F (CMT1F) MIM:607734
  • Charcot-Marie-Tooth disease, axonal, type 2E (CMT2E) MIM:607684
  • Charcot-Marie-Tooth disease, dominant intermediate G (CMTDIG) MIM:617882

Disease | GeneticClinVar

50 pathogenic / likely-pathogenic of 711 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NEFL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NEFL as an antibody target. Whether an autoantibody or antibody against NEFL could matter depends on whether native NEFL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NEFL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NEFL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NEFL. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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