P12036

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. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P12036-1; Sequence=Displayed; Name=2; IsoId=P12036-2; Sequence=VSP_036706; Note=No experimental confirmation available; 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/"; GENE SYNONYMS:NEFH KIAA0845 NFH. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., SEQUENCE 1026 AA; 112479 MW; 0879B6A08D208C17 CRC64;

NFH_HUMAN

urn:biopax:ModificationFeature:NFH_HUMAN_1, urn:biopax:ModificationFeature:NFH_HUMAN_10, urn:biopax:ModificationFeature:NFH_HUMAN_11, urn:biopax:ModificationFeature:NFH_HUMAN_12, urn:biopax:ModificationFeature:NFH_HUMAN_13, urn:biopax:ModificationFeature:NFH_HUMAN_14, urn:biopax:ModificationFeature:NFH_HUMAN_15, urn:biopax:ModificationFeature:NFH_HUMAN_16, urn:biopax:ModificationFeature:NFH_HUMAN_17, urn:biopax:ModificationFeature:NFH_HUMAN_18, urn:biopax:ModificationFeature:NFH_HUMAN_19, urn:biopax:ModificationFeature:NFH_HUMAN_2, urn:biopax:ModificationFeature:NFH_HUMAN_20, urn:biopax:ModificationFeature:NFH_HUMAN_21, urn:biopax:ModificationFeature:NFH_HUMAN_22, urn:biopax:ModificationFeature:NFH_HUMAN_23, urn:biopax:ModificationFeature:NFH_HUMAN_24, urn:biopax:ModificationFeature:NFH_HUMAN_25, urn:biopax:ModificationFeature:NFH_HUMAN_26, urn:biopax:ModificationFeature:NFH_HUMAN_27, urn:biopax:ModificationFeature:NFH_HUMAN_28, urn:biopax:ModificationFeature:NFH_HUMAN_29, urn:biopax:ModificationFeature:NFH_HUMAN_3, urn:biopax:ModificationFeature:NFH_HUMAN_30, urn:biopax:ModificationFeature:NFH_HUMAN_31, urn:biopax:ModificationFeature:NFH_HUMAN_32, urn:biopax:ModificationFeature:NFH_HUMAN_33, urn:biopax:ModificationFeature:NFH_HUMAN_4, urn:biopax:ModificationFeature:NFH_HUMAN_5, urn:biopax:ModificationFeature:NFH_HUMAN_6, urn:biopax:ModificationFeature:NFH_HUMAN_7, urn:biopax:ModificationFeature:NFH_HUMAN_8, urn:biopax:ModificationFeature:NFH_HUMAN_9

MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGELLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPFSLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKEEEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKSPEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKAKSPEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEARSPADKFPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVKVKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKKEEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEEKAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK