Human Gene NEFH (ENST00000310624.7) Description and Page Index
  Description: Homo sapiens neurofilament heavy (NEFH), mRNA. (from RefSeq NM_021076)
RefSeq Summary (NM_021076): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF203032.1, BC073969.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000310624.7
Gencode Gene: ENSG00000100285.10
Transcript (Including UTRs)
   Position: hg38 chr22:29,480,218-29,491,390 Size: 11,173 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr22:29,480,263-29,490,703 Size: 10,441 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:29,480,218-29,491,390)mRNA (may differ from genome)Protein (1020 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: NFH_HUMAN
DESCRIPTION: RecName: Full=Neurofilament heavy polypeptide; Short=NF-H; AltName: Full=200 kDa neurofilament protein; AltName: Full=Neurofilament triplet H protein;
FUNCTION: 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.
PTM: There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.
PTM: Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.
PTM: Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.
POLYMORPHISM: The number of repeats is shown to vary between 29 and 30.
DISEASE: Defects in NEFH are a cause of susceptibility to amyotrophic lateral sclerosis (ALS) [MIM:105400]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons, and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology is likely to be multifactorial, involving both genetic and environmental factors.
SIMILARITY: Belongs to the intermediate filament family.
SEQUENCE CAUTION: Sequence=BAA74868.2; Type=Erroneous initiation; Sequence=BAG63896.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";
WEB RESOURCE: Name=Alsod; Note=ALS genetic mutations db; URL="http://alsod.iop.kcl.ac.uk/Als/";

-  MalaCards Disease Associations
  MalaCards Gene Search: NEFH
Diseases sorted by gene-association score: charcot-marie-tooth disease, axonal, type 2cc* (917), amyotrophic lateral sclerosis 1* (269), nefh-related amyotrophic lateral sclerosis, susceptibility* (100), lateral sclerosis (20), motor neuron disease (9), htlv-1 associated myelopathy/tropical spastic paraparesis (8), axonal neuropathy (6), hyperphenylalaninemia (5), charcot-marie-tooth disease, type 2e (4), charcot-marie-tooth disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 79.73 RPKM in Prostate
Total median expression: 407.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.0045-0.267 Picture PostScript Text
3' UTR -205.20687-0.299 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010790 - DUF1388
IPR016044 - F
IPR018039 - Intermediate_filament_CS

Pfam Domains:
PF07142 - Repeat of unknown function (DUF1388)
PF00038 - Intermediate filament protein

ModBase Predicted Comparative 3D Structure on P12036
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0008017 microtubule binding
GO:0019894 kinesin binding
GO:0019901 protein kinase binding
GO:0030674 protein binding, bridging
GO:0070840 dynein complex binding

Biological Process:
GO:0000226 microtubule cytoskeleton organization
GO:0007409 axonogenesis
GO:0030031 cell projection assembly
GO:0033693 neurofilament bundle assembly
GO:0045104 intermediate filament cytoskeleton organization
GO:0045110 intermediate filament bundle assembly
GO:0048936 peripheral nervous system neuron axonogenesis
GO:0060052 neurofilament cytoskeleton organization
GO:0061564 axon development
GO:1902513 regulation of organelle transport along microtubule
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005882 intermediate filament
GO:0005883 neurofilament
GO:0014069 postsynaptic density
GO:0030424 axon
GO:0043209 myelin sheath
GO:0097418 neurofibrillary tangle


-  Descriptions from all associated GenBank mRNAs
  AB020652 - Homo sapiens KIAA0845 mRNA for KIAA0845 protein.
LF208988 - JP 2014500723-A/16491: Polycomb-Associated Non-Coding RNAs.
MA444565 - JP 2018138019-A/16491: Polycomb-Associated Non-Coding RNAs.
AK302660 - Homo sapiens cDNA FLJ54495 complete cds, highly similar to Neurofilament triplet H protein.
BC073969 - Homo sapiens neurofilament, heavy polypeptide, mRNA (cDNA clone MGC:90283 IMAGE:6137962), complete cds.
AF203032 - Homo sapiens neurofilament protein mRNA, complete cds.
BC008648 - Homo sapiens neurofilament, heavy polypeptide, mRNA (cDNA clone IMAGE:3866238), partial cds.
LF212371 - JP 2014500723-A/19874: Polycomb-Associated Non-Coding RNAs.
MA447948 - JP 2018138019-A/19874: Polycomb-Associated Non-Coding RNAs.
AB384011 - Synthetic construct DNA, clone: pF1KSDA0845, Homo sapiens NEFH gene for neurofilament heavy polypeptide, complete cds, without stop codon, in Flexi system.
JD021788 - Sequence 2812 from Patent EP1572962.
LF324714 - JP 2014500723-A/132217: Polycomb-Associated Non-Coding RNAs.
MA560291 - JP 2018138019-A/132217: Polycomb-Associated Non-Coding RNAs.
JD035735 - Sequence 16759 from Patent EP1572962.
LF324711 - JP 2014500723-A/132214: Polycomb-Associated Non-Coding RNAs.
MA560288 - JP 2018138019-A/132214: Polycomb-Associated Non-Coding RNAs.
LF324710 - JP 2014500723-A/132213: Polycomb-Associated Non-Coding RNAs.
MA560287 - JP 2018138019-A/132213: Polycomb-Associated Non-Coding RNAs.
LF324709 - JP 2014500723-A/132212: Polycomb-Associated Non-Coding RNAs.
MA560286 - JP 2018138019-A/132212: Polycomb-Associated Non-Coding RNAs.
LF324708 - JP 2014500723-A/132211: Polycomb-Associated Non-Coding RNAs.
MA560285 - JP 2018138019-A/132211: Polycomb-Associated Non-Coding RNAs.
S66488 - NEFH=neurofilament heavy subunit [human, mRNA Partial, 60 nt].
LF324708 - JP 2014500723-A/132211: Polycomb-Associated Non-Coding RNAs.
MA560285 - JP 2018138019-A/132211: Polycomb-Associated Non-Coding RNAs.
LF324708 - JP 2014500723-A/132211: Polycomb-Associated Non-Coding RNAs.
MA560285 - JP 2018138019-A/132211: Polycomb-Associated Non-Coding RNAs.
LF324708 - JP 2014500723-A/132211: Polycomb-Associated Non-Coding RNAs.
MA560285 - JP 2018138019-A/132211: Polycomb-Associated Non-Coding RNAs.
LF324708 - JP 2014500723-A/132211: Polycomb-Associated Non-Coding RNAs.
MA560285 - JP 2018138019-A/132211: Polycomb-Associated Non-Coding RNAs.
LF324708 - JP 2014500723-A/132211: Polycomb-Associated Non-Coding RNAs.
MA560285 - JP 2018138019-A/132211: Polycomb-Associated Non-Coding RNAs.
LF324707 - JP 2014500723-A/132210: Polycomb-Associated Non-Coding RNAs.
MA560284 - JP 2018138019-A/132210: Polycomb-Associated Non-Coding RNAs.
LF324706 - JP 2014500723-A/132209: Polycomb-Associated Non-Coding RNAs.
MA560283 - JP 2018138019-A/132209: Polycomb-Associated Non-Coding RNAs.
LF324705 - JP 2014500723-A/132208: Polycomb-Associated Non-Coding RNAs.
MA560282 - JP 2018138019-A/132208: Polycomb-Associated Non-Coding RNAs.
LF324703 - JP 2014500723-A/132206: Polycomb-Associated Non-Coding RNAs.
MA560280 - JP 2018138019-A/132206: Polycomb-Associated Non-Coding RNAs.
JD469279 - Sequence 450303 from Patent EP1572962.
JD390884 - Sequence 371908 from Patent EP1572962.
JD399114 - Sequence 380138 from Patent EP1572962.
JD501359 - Sequence 482383 from Patent EP1572962.
JD426324 - Sequence 407348 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05014 - Amyotrophic lateral sclerosis (ALS)

-  Other Names for This Gene
  Alternate Gene Symbols: B4DYY4, KIAA0845, NFH, NFH_HUMAN, NM_021076, P12036, Q96HF8, Q9UJS7, Q9UQ14, uc003afo.1, uc003afo.2, uc003afo.3, uc003afo.4, uc003afo.5
UCSC ID: uc003afo.5
RefSeq Accession: NM_021076
Protein: P12036 (aka NFH_HUMAN)
CCDS: CCDS13858.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.