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0NFH_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameNEFH
DescriptionNeurofilament triplet h protein (200 kda neurofilament protein) (neurofilament heavy polypeptide) (nf-h).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0030424 axon (TAS)
0005883 neurofilament (NAS)
0007399 neurogenesis (NAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Intermediate filaments (IF) are proteins which are primordial components of the cytoskeleton and the nuclear envelope. They generally form filamentous structures 8 to 14 nm wide.IF proteins are members of a very large multigene family of proteins which has been subdivided in five major subgroups:Type I: Acidic cytokeratins.Type II: Basic cytokeratins.Type III: Vimentin.esmin.lial fibrillary acidic protein (GFAP).eripherin.nd plasticin.Type IV: Neurofilaments L. and M.lpha-internexin and nestin.Type V: Nuclear lamins A.1.2 and C.All IF proteins are structurally similar in that they consist of: a central rod domain comprising some 300 to 350 residues which is arranged in coiled-coiled alpha-helices.ith at least two short characteristic interruptions; a N-terminal non-helical domain (head) of variable length; and a C-terminal domain (tail) which is also non-helical.nd which shows extreme length variation between different IF proteins.While IF proteins are evolutionary and structurally related.hey have limited sequence homologies except in several regions of the rod domain.
  IPR001664:Intermediate filament protein
This entry represents a repeated motif of around 29 residues in length. This repeat are found in the variable surface lipoproteins in Mycoplasma bovis and in mammalian neurofilament triplet H (NefH or NF-H) proteins. This repeat contains several Lys-Ser-Pro (KSP) motifs and in NefH these are thought to function as the main target for neurofilament directed protein kinases in vivo .
  IPR010790:Protein of unknown function DUF1388
This domain consists of several insect apolipoprotein-III sequences. Exchangeable apolipoproteins constitute a functionally important family of proteins that play critical roles in lipid transport and lipoprotein metabolism. Apolipophorin III (apoLp-III) is a prototypical exchangeable apolipoprotein found in many insect species that functions in transport of diacylglycerol (DAG) from the fat body lipid storage depot to flight muscles in the adult life stage .The SSF signature in this entry is currently under review. Please be aware that some of the protein hits may be false positives.
  IPR011000:Apolipophorin III-like
IPR001664:Filament 
Evalue:-145.36653137207 
Location:96-412IPR010790:DUF1388 
Evalue:-4.69896984100342 
Location:575-605IPR010790:DUF1388 
Evalue:-4.30980396270752 
Location:541-571IPR010790:DUF1388 
Evalue:-3.65757727622986 
Location:610-639
SequencesProtein: NFH_HUMAN (1026 aa)
mRNA: AB020652 NM_021076
Local Annotation
Synapse Ontology
intermediate filaments of the presynaptic compartments. Both microtubles and intermediate filaments represent the main structural scaffold of axons.
sdb:0086 intermediate filaments  (Evidence:keywords)
KO assignmentK04574
  Level 3 annotation:
    neurofilament heavy polypeptide
  Level 2 annotation:
    Amyotrophic lateral sclerosis (ALS)
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 37 residues, 28196906-28197016Exon2: 50 residues, 28198294-28198438Exon3: 300 residues, 28206240-28207134Exon4: 67 residues, 28209363-28209559Exon5: 45 residues, 28211707-28211836Exon6: 814 residues, 28214837-28217275Exon7: 2 residues, -Jump to NFH_HUMANExon1: 306 residues, 28206218-28207134Exon2: 68 residues, 28209363-28209563Exon3: 43 residues, 28211711-28211836Exon4: 814 residues, 28214837-28217274Exon5: 2 residues, -Jump to NFH_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 4562 28053670-28114569 ~-61K 24460(AP1B1)(-)Loci: 3306 28196906-28217275 ~-20K 24467(NEFH)(+)Loci: 3305 27994282-28026505 ~-32K 24453(EWSR1)(+)Link out to UCSC