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UniProtKB - P12036 (NFH_HUMAN)

Entry version 203 (23 Feb 2022)
Sequence version 4 (24 Mar 2009)
Previous versions | rss
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Protein

Neurofilament heavy polypeptide

Gene

NEFH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity).

By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P12036

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P12036

SIGNOR Signaling Network Open Resource

More...SIGNORi		P12036

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Neurofilament heavy polypeptide
Short name:
NF-H
Alternative name(s):
200 kDa neurofilament protein
Neurofilament triplet H protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NEFH
Synonyms:KIAA0845, NFH
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7737, NEFH

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		162230, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P12036

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000100285

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Intermediate filament

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Amyotrophic lateral sclerosis (ALS)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023063796Missing in ALS. 1 Publication1
Charcot-Marie-Tooth disease 2CC (CMT2CC)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Related information in OMIM

Keywords - Diseasei

Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Disease variant, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...DisGeNETi		4744

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		NEFH

MalaCards human disease database

More...MalaCardsi		NEFH
MIMi105400, phenotype
616924, phenotype

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		803, Amyotrophic lateral sclerosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31540

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P12036, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NEFH

Domain mapping of disease mutations (DMDM)

More...DMDMi		226726294

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000638001 – 1026Neurofilament heavy polypeptideAdd BLAST1026

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei76PhosphoserineBy similarity1
Modified residuei124PhosphoserineBy similarity1
Modified residuei347PhosphoserineBy similarity1
Modified residuei421PhosphoserineBy similarity1
Modified residuei511PhosphoserineBy similarity1
Modified residuei526PhosphoserineBy similarity1
Modified residuei532PhosphoserineBy similarity1
Modified residuei540PhosphoserineCombined sources1
Modified residuei546PhosphoserineBy similarity1
Modified residuei552PhosphoserineBy similarity1
Modified residuei560PhosphoserineBy similarity1
Modified residuei566PhosphoserineBy similarity1
Modified residuei574PhosphoserineCombined sources1
Modified residuei580PhosphoserineBy similarity1
Modified residuei586PhosphoserineBy similarity1
Modified residuei594PhosphoserineBy similarity1
Modified residuei600PhosphoserineBy similarity1
Modified residuei606PhosphoserineBy similarity1
Modified residuei614PhosphoserineBy similarity1
Modified residuei620PhosphoserineBy similarity1
Modified residuei628PhosphoserineCombined sources1
Modified residuei634PhosphoserineBy similarity1
Modified residuei640PhosphoserineBy similarity1
Modified residuei648PhosphoserineBy similarity1
Modified residuei654PhosphoserineBy similarity1
Modified residuei660PhosphoserineBy similarity1
Modified residuei668PhosphoserineBy similarity1
Modified residuei674PhosphoserineCombined sources1
Modified residuei682PhosphoserineBy similarity1
Modified residuei688PhosphoserineCombined sources1
Modified residuei696PhosphoserineBy similarity1
Modified residuei702PhosphoserineBy similarity1
Modified residuei710PhosphoserineBy similarity1
Modified residuei724PhosphoserineBy similarity1
Modified residuei730PhosphoserineBy similarity1
Modified residuei744PhosphoserineBy similarity1
Modified residuei758PhosphoserineBy similarity1
Modified residuei769PhosphoserineBy similarity1
Modified residuei774PhosphothreonineBy similarity1
Modified residuei793PhosphoserineBy similarity1
Modified residuei801PhosphoserineBy similarity1
Modified residuei828PhosphoserineBy similarity1
Modified residuei894PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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.1 Publication
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.1 Publication
Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P12036

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P12036

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P12036

MaxQB - The MaxQuant DataBase

More...MaxQBi		P12036

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P12036

PeptideAtlas

More...PeptideAtlasi		P12036

PRoteomics IDEntifications database

More...PRIDEi		P12036

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		52821 [P12036-1]
52822 [P12036-2]

2D gel databases

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		P12036

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		P12036

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P12036, 4 sites, 1 O-linked glycan (4 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P12036

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P12036

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P12036

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100285, Expressed in dorsal root ganglion and 193 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P12036, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000100285, Group enriched (brain, prostate)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms heterodimers with NEFL; which can further hetero-oligomerize (in vitro) (By similarity). Forms heterodimers with INA (in vitro) (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110819, 36 interactors

Protein interaction database and analysis system

More...IntActi		P12036, 32 interactors

Molecular INTeraction database

More...MINTi		P12036

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000311997

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P12036, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P12036

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini97 – 413IF rodPROSITE-ProRule annotationAdd BLAST317
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati525 – 53016
Repeati531 – 53626
Repeati539 – 54436
Repeati545 – 55046
Repeati559 – 56456
Repeati573 – 57866
Repeati579 – 58476
Repeati593 – 59886
Repeati599 – 60496
Repeati613 – 618106
Repeati627 – 632116
Repeati633 – 638126
Repeati647 – 652136
Repeati653 – 658146
Repeati667 – 672156
Repeati673 – 678166
Repeati681 – 686176
Repeati687 – 692186
Repeati695 – 700196
Repeati701 – 706206
Repeati709 – 714216
Repeati715 – 720226
Repeati723 – 728236
Repeati729 – 734246
Repeati743 – 748256
Repeati751 – 756266
Repeati768 – 773276
Repeati792 – 797286
Repeati800 – 805296
Repeati827 – 832306

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 100HeadAdd BLAST100
Regioni58 – 83DisorderedSequence analysisAdd BLAST26
Regioni101 – 132Coil 1AAdd BLAST32
Regioni133 – 145Linker 1Add BLAST13
Regioni146 – 244Coil 1BAdd BLAST99
Regioni245 – 266Linker 12Add BLAST22
Regioni267 – 288Coil 2AAdd BLAST22
Regioni289 – 292Linker 24
Regioni293 – 413Coil 2BAdd BLAST121
Regioni414 – 1026TailAdd BLAST613
Regioni456 – 1026DisorderedSequence analysisAdd BLAST571
Regioni525 – 83230 X 6 AA repeats of K-S-P-[AEPV]-[EAK]-[AEVK]Add BLAST308

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi58 – 81Polar residuesSequence analysisAdd BLAST24
Compositional biasi462 – 498Acidic residuesSequence analysisAdd BLAST37
Compositional biasi499 – 1026Basic and acidic residuesSequence analysisAdd BLAST528

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QYDU, Eukaryota

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_012560_7_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P12036

Database of Orthologous Groups

More...OrthoDBi		898483at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P12036

TreeFam database of animal gene trees

More...TreeFami		TF330122

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR010790, DUF1388
IPR018039, IF_conserved
IPR039008, IF_rod_dom
IPR033183, NF-H

The PANTHER Classification System

More...PANTHERi		PTHR23214, PTHR23214, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07142, DUF1388, 11 hits
PF00038, Filament, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01391, Filament, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00226, IF_ROD_1, 1 hit
PS51842, IF_ROD_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P12036-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MMSFGGADAL LGAPFAPLHG GGSLHYALAR KGGAGGTRSA AGSSSGFHSW 
        60         70         80         90        100
TRTSVSSVSA SPSRFRGAGA ASSTDSLDTL SNGPEGCMVA VATSRSEKEQ 
       110        120        130        140        150
LQALNDRFAG YIDKVRQLEA HNRSLEGEAA ALRQQQAGRS AMGELYEREV 
       160        170        180        190        200
REMRGAVLRL GAARGQLRLE QEHLLEDIAH VRQRLDDEAR QREEAEAAAR 
       210        220        230        240        250
ALARFAQEAE AARVDLQKKA QALQEECGYL RRHHQEEVGE LLGQIQGSGA 
       260        270        280        290        300
AQAQMQAETR DALKCDVTSA LREIRAQLEG HAVQSTLQSE EWFRVRLDRL 
       310        320        330        340        350
SEAAKVNTDA MRSAQEEITE YRRQLQARTT ELEALKSTKD SLERQRSELE 
       360        370        380        390        400
DRHQADIASY QEAIQQLDAE LRNTKWEMAA QLREYQDLLN VKMALDIEIA 
       410        420        430        440        450
AYRKLLEGEE CRIGFGPIPF SLPEGLPKIP SVSTHIKVKS EEKIKVVEKS 
       460        470        480        490        500
EKETVIVEEQ TEETQVTEEV TEEEEKEAKE EEGKEEEGGE EEEAEGGEEE 
       510        520        530        540        550
TKSPPAEEAA SPEKEAKSPV KEEAKSPAEA KSPEKEEAKS PAEVKSPEKA 
       560        570        580        590        600
KSPAKEEAKS PPEAKSPEKE EAKSPAEVKS PEKAKSPAKE EAKSPAEAKS 
       610        620        630        640        650
PEKAKSPVKE EAKSPAEAKS PVKEEAKSPA EVKSPEKAKS PTKEEAKSPE 
       660        670        680        690        700
KAKSPEKAKS PEKEEAKSPE KAKSPVKAEA KSPEKAKSPV KAEAKSPEKA 
       710        720        730        740        750
KSPVKEEAKS PEKAKSPVKE EAKSPEKAKS PVKEEAKTPE KAKSPVKEEA 
       760        770        780        790        800
KSPEKAKSPE KAKTLDVKSP EAKTPAKEEA RSPADKFPEK AKSPVKEEVK 
       810        820        830        840        850
SPEKAKSPLK EDAKAPEKEI PKKEEVKSPV KEEEKPQEVK VKEPPKKAEE 
       860        870        880        890        900
EKAPATPKTE EKKDSKKEEA PKKEAPKPKV EEKKEPAVEK PKESKVEAKK 
       910        920        930        940        950
EEAEDKKKVP TPEKEAPAKV EVKEDAKPKE KTEVAKKEPD DAKAKEPSKP 
       960        970        980        990       1000
AEKKEAAPEK KDTKEEKAKK PEEKPKTEAK AKEDDKTLSK EPSKPKAEKA 
      1010       1020 
EKSSSTDQKD SKPPEKATED KAAKGK
Length:1,026
Mass (Da):112,479
Last modified:March 24, 2009 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0879B6A08D208C17
GO
Isoform 2 (identifier: P12036-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     750-812: Missing.

Show »
Length:963
Mass (Da):105,639
Checksum:i6E272AB8F3FBF5EA
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA74868 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAG63896 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti647 – 652Missing in CAA33366 (PubMed:3138108).Curated6
Sequence conflicti647 – 652Missing in AC000035 (PubMed:10591208).Curated6

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

The number of repeats is shown to vary between 29 and 30.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054787575P → S. Corresponds to variant dbSNP:rs6006164EnsemblClinVar.1
Natural variantiVAR_056025615P → L. Corresponds to variant dbSNP:rs5763269EnsemblClinVar.1
Natural variantiVAR_023063796Missing in ALS. 1 Publication1
Natural variantiVAR_026163811E → A1 PublicationCorresponds to variant dbSNP:rs165602Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_036706750 – 812Missing in isoform 2. 1 PublicationAdd BLAST63

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X15306 X15309 Genomic DNA Translation: CAA33366.1
AF203032 mRNA Translation: AAF13722.1
AB020652 mRNA Translation: BAA74868.2 Different initiation.
AK302660 mRNA Translation: BAG63896.1 Different initiation.
AC000035 Genomic DNA No translation available.
BC008648 mRNA Translation: AAH08648.1
BC073969 mRNA Translation: AAH73969.1

Protein sequence database of the Protein Information Resource

More...PIRi		S00979, QFHUH

NCBI Reference Sequences

More...RefSeqi		NP_066554.2, NM_021076.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000310624; ENSP00000311997; ENSG00000100285

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4744

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4744

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000310624.7; ENSP00000311997.6; NM_021076.4; NP_066554.2

UCSC genome browser

More...UCSCi		uc003afo.4, human [P12036-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Human Intermediate Filament Mutation Database
Alsod

ALS genetic mutations db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X15306 X15309 Genomic DNA Translation: CAA33366.1
AF203032 mRNA Translation: AAF13722.1
AB020652 mRNA Translation: BAA74868.2 Different initiation.
AK302660 mRNA Translation: BAG63896.1 Different initiation.
AC000035 Genomic DNA No translation available.
BC008648 mRNA Translation: AAH08648.1
BC073969 mRNA Translation: AAH73969.1
PIRiS00979, QFHUH
RefSeqiNP_066554.2, NM_021076.3

3D structure databases

SMRiP12036
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110819, 36 interactors
IntActiP12036, 32 interactors
MINTiP12036
STRINGi9606.ENSP00000311997

PTM databases

CarbonylDBiP12036
GlyGeniP12036, 4 sites, 1 O-linked glycan (4 sites)
iPTMnetiP12036
PhosphoSitePlusiP12036
SwissPalmiP12036

Genetic variation databases

BioMutaiNEFH
DMDMi226726294

2D gel databases

UCD-2DPAGEiP12036

Proteomic databases

EPDiP12036
jPOSTiP12036
MassIVEiP12036
MaxQBiP12036
PaxDbiP12036
PeptideAtlasiP12036
PRIDEiP12036
ProteomicsDBi52821 [P12036-1]
52822 [P12036-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3579, 1676 antibodies from 47 providers

The DNASU plasmid repository

More...DNASUi		4744

Genome annotation databases

EnsembliENST00000310624; ENSP00000311997; ENSG00000100285
GeneIDi4744
KEGGihsa:4744
MANE-SelectiENST00000310624.7; ENSP00000311997.6; NM_021076.4; NP_066554.2
UCSCiuc003afo.4, human [P12036-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4744
DisGeNETi4744

GeneCards: human genes, protein and diseases

More...GeneCardsi		NEFH
GeneReviewsiNEFH
HGNCiHGNC:7737, NEFH
HPAiENSG00000100285, Group enriched (brain, prostate)
MalaCardsiNEFH
MIMi105400, phenotype
162230, gene
616924, phenotype
neXtProtiNX_P12036
Orphaneti803, Amyotrophic lateral sclerosis
PharmGKBiPA31540
VEuPathDBiHostDB:ENSG00000100285

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QYDU, Eukaryota
HOGENOMiCLU_012560_7_2_1
InParanoidiP12036
OrthoDBi898483at2759
PhylomeDBiP12036
TreeFamiTF330122

Enzyme and pathway databases

PathwayCommonsiP12036
SignaLinkiP12036
SIGNORiP12036

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4744, 7 hits in 1043 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		NEFH, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4744
PharosiP12036, Tbio

Protein Ontology

More...PROi		PR:P12036
RNActiP12036, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100285, Expressed in dorsal root ganglion and 193 other tissues
GenevisibleiP12036, HS

Family and domain databases

InterProiView protein in InterPro
IPR010790, DUF1388
IPR018039, IF_conserved
IPR039008, IF_rod_dom
IPR033183, NF-H
PANTHERiPTHR23214, PTHR23214, 2 hits
PfamiView protein in Pfam
PF07142, DUF1388, 11 hits
PF00038, Filament, 1 hit
SMARTiView protein in SMART
SM01391, Filament, 1 hit
PROSITEiView protein in PROSITE
PS00226, IF_ROD_1, 1 hit
PS51842, IF_ROD_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNFH_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P12036
Secondary accession number(s): B4DYY4
, Q96HF8, Q9UJS7, Q9UQ14
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: March 24, 2009
Last modified: February 23, 2022
This is version 203 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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