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Tbio
NEFH
Neurofilament heavy polypeptide

Protein Summary
Description
Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins. 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 heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000310624
  • ENSP00000311997
  • ENSG00000100285

Symbol
  • KIAA0845
  • NFH
  • NFH
  • CMT2CC
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
gene perturbation
0.91
phosphatase
0.81
PubMedID
0.76
chemical
0.65
hub protein
0.63


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 604.34   (req: < 5)
Gene RIFs: 40   (req: <= 3)
Antibodies: 1539   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 604.34   (req: >= 5)
Gene RIFs: 40   (req: > 3)
Antibodies: 1539   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 17
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Gene Ontology Terms (26)
Items per page:
10
1 – 8 of 8
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
ARUK-UCL
Inferred from Mutant Phenotype (IMP)
BHF-UCL
Inferred from Sequence or structural Similarity (ISS)
BHF-UCL
Inferred from Sequence or structural Similarity (ISS)
BHF-UCL
Traceable Author Statement (TAS)
BHF-UCL
Traceable Author Statement (TAS)
BHF-UCL
Traceable Author Statement (TAS)
BHF-UCL
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (85)
1 – 10 of 85
INA
Tbio
Novelty: 0.01019884
p_int: 0.999937342
p_ni: 0.000062658
Score: 0.4
Data Source: BioPlex,STRINGDB
NEFL
Tbio
Novelty: 0.00081808
p_int: 0.999791441
p_ni: 0.000208557
p_wrong: 2e-9
Score: 0.71
Data Source: BioPlex,STRINGDB
NEFM
Tbio
Novelty: 0.00286577
p_int: 0.998030253
p_ni: 0.001969747
Score: 0.804
Data Source: BioPlex,STRINGDB
TARBP1
Tbio
Family: Enzyme
Novelty: 0.05123097
p_int: 0.973115117
p_ni: 0.026884882
p_wrong: 1e-9
Data Source: BioPlex
C16orf70
Tdark
p_int: 0.969893698
p_ni: 0.030106279
p_wrong: 2.2e-8
Data Source: BioPlex
GPATCH2L
Tdark
Novelty: 4
p_int: 0.9473226
p_ni: 0.052677398
p_wrong: 2e-9
Score: 0.169
Data Source: BioPlex,STRINGDB
PI4KA
Tchem
Family: Kinase
Novelty: 0.02976615
p_int: 0.945791146
p_ni: 0.05420884
p_wrong: 1.4e-8
Score: 0.181
Data Source: BioPlex,STRINGDB
MT1M
Tbio
Novelty: 0.00487649
p_int: 0.909363717
p_ni: 0.088953324
p_wrong: 0.001682959
Data Source: BioPlex
FCF1
Tdark
Novelty: 0.00913312
p_int: 0.891548715
p_ni: 0.108451278
p_wrong: 7e-9
Data Source: BioPlex
DTL
Tbio
Novelty: 0.01976973
p_int: 0.889038123
p_ni: 0.106909716
p_wrong: 0.00405216
Data Source: BioPlex
Publication Statistics
PubMed Score  604.34

PubMed score by year
PubTator Score  242.52

PubTator score by year
Amino Acid Sequence
Residue Counts
Sequence
MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGA
1-70
ASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRS
70-140
AMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAE
140-210
AARVDLQKKAQALQEECGYLRRHHQEEVGELLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEG
210-280
HAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELE
280-350
DRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPF
350-420
SLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKEEEGKEEEGGE
420-490
EEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKS
490-560
PPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKSPEKAKSPVKEEAKSPAEAKSPVKEEAKSPA
560-630
EVKSPEKAKSPTKEEAKSPEKAKSPEKAKSPEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKA
630-700
KSPVKEEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSP
700-770
EAKTPAKEEARSPADKFPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVK
770-840
VKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKKEEAEDKKKVP
840-910
TPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEEKAKKPEEKPKTEAK
910-980
AKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK
980-1026
MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGELLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPFSLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKEEEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKSPEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKAKSPEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEARSPADKFPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVKVKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKKEEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEEKAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK