• Gene id: 4741

Gene Summary

• Gene Symbol: NEFM   Gene   UCSC   Ensembl
• Aliases: NEF3, NF-M, NFM
• Gene name: neurofilament medium
• Alternate names: neurofilament medium polypeptide, 160 kDa neurofilament protein, neurofilament 3, neurofilament triplet M protein, neurofilament, medium polypeptide 150kDa, neurofilament-3 (150 kD medium),
• Gene location: 8p21.2 (24913760: 24919092)     Exons: 4     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 602606

SNPs

rs11857513

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.50497226G>A
NC_000015.10   g.50497226G>C
NC_000015.9   g.50789423G>A
NC_000015.9   g.50789423G>C
NG_047101.1   g.77850G>A
NG_047101.1   g.77850G>C
NM_001128610.2   c.3033G>A
NM_001128610.2   c.3033G>C
NM_001128610.3   c.3033G>A
NM_001128610.3   c.3033G>

Protein Summary

• Protein general information: P07197  
  • Name: Neurofilament medium polypeptide (NF M) (160 kDa neurofilament protein) (Neurofilament 3) (Neurofilament triplet M protein)
  • Length: 916  
  • Mass: 102472
• Sequence:

  MSYTLDSLGNPSAYRRVTETRSSFSRVSGSPSSGFRSQSWSRGSPSTVSSSYKRSMLAPRLAYSSAMLSSAESSL
  DFSQSSSLLNGGSGPGGDYKLSRSNEKEQLQGLNDRFAGYIEKVHYLEQQNKEIEAEIQALRQKQASHAQLGDAY
  DQEIRELRATLEMVNHEKAQVQLDSDHLEEDIHRLKERFEEEARLRDDTEAAIRALRKDIEEASLVKVELDKKVQ
  SLQDEVAFLRSNHEEEVADLLAQIQASHITVERKDYLKTDISTALKEIRSQLESHSDQNMHQAEEWFKCRYAKLT
  EAAEQNKEAIRSAKEEIAEYRRQLQSKSIELESVRGTKESLERQLSDIEERHNHDLSSYQDTIQQLENELRGTKW
  EMARHLREYQDLLNVKMALDIEIAAYRKLLEGEETRFSTFAGSITGPLYTHRPPITISSKIQKPKVEAPKLKVQH
  KFVEEIIEETKVEDEKSEMEEALTAITEELAVSMKEEKKEAAEEKEEEPEAEEEEVAAKKSPVKATAPEVKEEEG
  EKEEEEGQEEEEEEDEGAKSDQAEEGGSEKEGSSEKEEGEQEEGETEAEAEGEEAEAKEEKKVEEKSEEVATKEE
  LVADAKVEKPEKAKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVSKSPVE
  EKAKSPVPKSPVEEAKSKAEVGKGEQKEEEEKEVKEAPKEEKVEKKEEKPKDVPEKKKAESPVKEEAVAEVVTIT
  KSVKVHLEKETKEEGKPLQQEKEKEKAGGEGGSEEEGSDKGAKGSRKEDIAVNGEVEGKEEVEQETKEKGSGREE
  EKGVVTNGLDLSPADEKKGGDKSEEKVVVTKTVEKITSEGGDGATKYITKSVTVTQKVEEHEETFEEKLVSTKKV
  EKVTSHAIVKEVTQSD

• Structural information:
  • Protein Domains: (101..41-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188"-)
  • Interpro: IPR018039  IPR039008  IPR042180  IPR006821  IPR002957   IPR027697  
  • Prosite: PS00226 PS51842
  • STRING: ENSP00000221166
• Other Databases: GeneCards:  NEFM  Malacards:  NEFM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005883	neurofilament	IEA	cellular component
GO:0033693	neurofilament bundle assembly	IEA	biological process
GO:0005882	intermediate filament	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005883	neurofilament	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097418	neurofibrillary tangle	IDA	cellular component
GO:0008017	microtubule binding	TAS	molecular function
GO:0033693	neurofilament bundle assembly	TAS	biological process
GO:0030424	axon	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0030424	axon	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05014	Amyotrophic lateral sclerosis

Diseases

Associated diseases	References
Alzheimer's disease	PMID:17687114
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray