• Gene id: 4744

Gene Summary

• Gene Symbol: NEFH   Gene   UCSC   Ensembl
• Aliases: CMT2CC, NFH
• Gene name: neurofilament heavy
• Alternate names: neurofilament heavy polypeptide, 200 kDa neurofilament protein, NF-H, neurofilament triplet H protein, neurofilament, heavy polypeptide 200kDa,
• Gene location: 22q12.2 (108759954: 108645108)     Exons: 19     NC_000012.12
• 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: 162230

Protein Summary

• Protein general information: P12036  
  • Name: Neurofilament heavy polypeptide (NF H) (200 kDa neurofilament protein) (Neurofilament triplet H protein)
  • Length: 1026  
  • Mass: 112479
• Sequence:

  MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGAASSTD
  SLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRSAMGELYEREV
  REMRGAVLRLGAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQE
  ECGYLRRHHQEEVGELLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRL
  SEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTK
  WEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPFSLPEGLPKIPSVSTHIKVKSEEKIKVVEKS
  EKETVIVEEQTEETQVTEEVTEEEEKEAKEEEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAK
  SPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKS
  PEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKAKSPEKEEAKSPEKAKSP
  VKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKTPEKAKSPVKEEA
  KSPEKAKSPEKAKTLDVKSPEAKTPAKEEARSPADKFPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEE
  VKSPVKEEEKPQEVKVKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKK
  EEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEEKAKKPEEKP
  KTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK

• Structural information:
  • Protein Domains: (97..41-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188"-)
  • Interpro: IPR010790  IPR018039  IPR039008  IPR042180  IPR033183  
  • Prosite: PS00226 PS51842
  • STRING: ENSP00000311997
• Other Databases: GeneCards:  NEFH  Malacards:  NEFH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005856	cytoskeleton	IDA	cellular component
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005883	neurofilament	IEA	cellular component
GO:0061564	axon development	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005883	neurofilament	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0045104	intermediate filament cytoskeleton organization	IEA	biological process
GO:0048936	peripheral nervous system neuron axonogenesis	IEA	biological process
GO:0061564	axon development	IEA	biological process
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0099160	postsynaptic intermediate filament cytoskeleton	IEA	cellular component
GO:0099184	structural constituent of postsynaptic intermediate filament cytoskeleton	IEA	molecular function
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0045110	intermediate filament bundle assembly	IEA	biological process
GO:0060052	neurofilament cytoskeleton organization	IEA	biological process
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0097418	neurofibrillary tangle	IDA	cellular component
GO:0005200	structural constituent of cytoskeleton	IMP	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0030674	protein-macromolecule adaptor activity	ISS	molecular function
GO:0005883	neurofilament	NAS	cellular component
GO:0030031	cell projection assembly	TAS	biological process
GO:0033693	neurofilament bundle assembly	IMP	biological process
GO:0061564	axon development	IMP	biological process
GO:1902513	regulation of organelle transport along microtubule	IMP	biological process
GO:0007409	axonogenesis	TAS	biological process
GO:0008017	microtubule binding	TAS	molecular function
GO:0005200	structural constituent of cytoskeleton	ISS	molecular function
GO:0019894	kinesin binding	TAS	molecular function
GO:0070840	dynein complex binding	TAS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0099185	postsynaptic intermediate filament cytoskeleton organization	IEA	biological process
GO:0030424	axon	TAS	cellular component
GO:0005883	neurofilament	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05014	Amyotrophic lateral sclerosis

Diseases

Associated diseases	References
Varicocele	MIK: 17113704
Charcot-Marie-Tooth disease	KEGG:H00264
Amyotrophic lateral sclerosis	KEGG:H00058
Charcot-Marie-Tooth disease	KEGG:H00264
Amyotrophic lateral sclerosis	KEGG:H00058
Amyotrophic lateral sclerosis	PMID:9931323
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Varicocele	MIK: 17113704

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17113704	Varicocele			60 (20 varicocele patients, 40 normal spermatic cords)	Male infertility	VWF NF-200
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq