Seroatlas · Human Serome Atlas

NEFM

Neurofilament medium polypeptide

Also known as: NEF3, NF-M, NFM, NFM_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: P07197
Gene: NEFM
Ensembl: ENSG00000104722
Chromosome: 8
Canonical length: 916 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Intermediate filaments

OverviewNCBI Gene

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

916 residues, UniProt reviewed canonical sequence.

>P07197|NEFM
     1  MSYTLDSLGN PSAYRRVTET RSSFSRVSGS PSSGFRSQSW SRGSPSTVSS SYKRSMLAPR
    61  LAYSSAMLSS AESSLDFSQS SSLLNGGSGP GGDYKLSRSN EKEQLQGLND RFAGYIEKVH
   121  YLEQQNKEIE AEIQALRQKQ ASHAQLGDAY DQEIRELRAT LEMVNHEKAQ VQLDSDHLEE
   181  DIHRLKERFE EEARLRDDTE AAIRALRKDI EEASLVKVEL DKKVQSLQDE VAFLRSNHEE
   241  EVADLLAQIQ ASHITVERKD YLKTDISTAL KEIRSQLESH SDQNMHQAEE WFKCRYAKLT
   301  EAAEQNKEAI RSAKEEIAEY RRQLQSKSIE LESVRGTKES LERQLSDIEE RHNHDLSSYQ
   361  DTIQQLENEL RGTKWEMARH LREYQDLLNV KMALDIEIAA YRKLLEGEET RFSTFAGSIT
   421  GPLYTHRPPI TISSKIQKPK VEAPKLKVQH KFVEEIIEET KVEDEKSEME EALTAITEEL
   481  AVSMKEEKKE AAEEKEEEPE AEEEEVAAKK SPVKATAPEV KEEEGEKEEE EGQEEEEEED
   541  EGAKSDQAEE GGSEKEGSSE KEEGEQEEGE TEAEAEGEEA EAKEEKKVEE KSEEVATKEE
   601  LVADAKVEKP EKAKSPVPKS PVEEKGKSPV PKSPVEEKGK SPVPKSPVEE KGKSPVPKSP
   661  VEEKGKSPVS KSPVEEKAKS PVPKSPVEEA KSKAEVGKGE QKEEEEKEVK EAPKEEKVEK
   721  KEEKPKDVPE KKKAESPVKE EAVAEVVTIT KSVKVHLEKE TKEEGKPLQQ EKEKEKAGGE
   781  GGSEEEGSDK GAKGSRKEDI AVNGEVEGKE EVEQETKEKG SGREEEKGVV TNGLDLSPAD
   841  EKKGGDKSEE KVVVTKTVEK ITSEGGDGAT KYITKSVTVT QKVEEHEETF EEKLVSTKKV
   901  EKVTSHAIVK EVTQSD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NEFM 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): 0.62
Highest tissue expression: 308 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 308 nTPM
midbrain: 171 nTPM
hippocampal formation: 145 nTPM
hypothalamus: 101 nTPM
basal ganglia: 98 nTPM
spinal cord: 96 nTPM

Single-cell type

late spermatids: 178 nCPM
gonadotrophs: 152 nCPM
retinal ganglion cells: 135 nCPM
late primary spermatocytes: 122 nCPM
corticotrophs: 115 nCPM
early spermatids: 81 nCPM

Immune cell

MAIT T-cell: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

cerebral cortex: 1,543 nTPM
medulla oblongata: 1,400 nTPM
pons: 1,142 nTPM
thalamus: 1,001 nTPM
white matter: 521 nTPM
cerebellum: 415 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NEFM.

Disease | ImmuneIEDB

Conditions an epitope on NEFM was assayed in.

narcolepsy B cell
multiple sclerosis B cell
peripheral nervous system disease B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.51
gnomAD pLI: 0.02
gnomAD missense Z: -0.07
DepMap mean gene effect: 0.08
DepMap dependency class: selective

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

neurofilament bundle assembly

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

NEFM 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 NEFM as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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