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Entry version 190 (16 Oct 2019)
Sequence version 4 (24 Mar 2009)
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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: 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.

<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

GO - Biological processi

Enzyme and pathway databases

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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

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HGNCi
HGNC:7737 NEFH

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
162230 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P12036

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<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

Cytoplasm, 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 variations 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 mutations 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 mutation, 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

Polymorphism and mutation 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.<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_processing_section">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

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EPDi
P12036

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P12036

MassIVE - Mass Spectrometry Interactive Virtual Environment

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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

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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

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 168 organ(s), highest expression level in dorsal root ganglion

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P12036 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB007786
HPA061615

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110819, 26 interactors

Protein interaction database and analysis system

More...
IntActi
P12036, 29 interactors

Molecular INTeraction database

More...
MINTi
P12036

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000311997

<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_and_domains_section">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
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
Regioni525 – 83230 X 6 AA repeats of K-S-P-[AEPV]-[EAK]-[AEVK]Add BLAST308

<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
ENOG410IGME Eukaryota
ENOG410XPTM LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230977

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P12036

KEGG Orthology (KO)

More...
KOi
K04574

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

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.5.1160, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR010790 DUF1388
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR042180 IF_rod_dom_coil1B
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, 8 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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 <div> <p><b>What is the canonical sequence?</b><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.

Note: No experimental confirmation available.
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_in_disease">'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:rs6006164Ensembl.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

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
X15306
, X15307, X15308, 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

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PIRi
S00979 QFHUH

NCBI Reference Sequences

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RefSeqi
NP_066554.2, NM_021076.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000310624; ENSP00000311997; ENSG00000100285

Database of genes from NCBI RefSeq genomes

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GeneIDi
4744

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4744

UCSC genome browser

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UCSCi
uc003afo.4 human [P12036-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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_references_section">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
, X15307, X15308, 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, 26 interactors
IntActiP12036, 29 interactors
MINTiP12036
STRINGi9606.ENSP00000311997

PTM databases

CarbonylDBiP12036
iPTMnetiP12036
PhosphoSitePlusiP12036
SwissPalmiP12036

Polymorphism and mutation databases

BioMutaiNEFH
DMDMi226726294

2D gel databases

UCD-2DPAGEiP12036

Proteomic databases

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

Genome annotation databases

EnsembliENST00000310624; ENSP00000311997; ENSG00000100285
GeneIDi4744
KEGGihsa:4744
UCSCiuc003afo.4 human [P12036-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4744
DisGeNETi4744

GeneCards: human genes, protein and diseases

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GeneCardsi
NEFH
GeneReviewsiNEFH
HGNCiHGNC:7737 NEFH
HPAiCAB007786
HPA061615
MalaCardsiNEFH
MIMi105400 phenotype
162230 gene
616924 phenotype
neXtProtiNX_P12036
Orphaneti803 Amyotrophic lateral sclerosis
PharmGKBiPA31540

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGME Eukaryota
ENOG410XPTM LUCA
HOGENOMiHOG000230977
InParanoidiP12036
KOiK04574
OrthoDBi898483at2759
PhylomeDBiP12036
TreeFamiTF330122

Enzyme and pathway databases

SIGNORiP12036

Miscellaneous databases

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

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ChiTaRSi
NEFH human

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

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GenomeRNAii
4744
PharosiP12036

Protein Ontology

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PROi
PR:P12036

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100285 Expressed in 168 organ(s), highest expression level in dorsal root ganglion
GenevisibleiP12036 HS

Family and domain databases

Gene3Di1.20.5.1160, 1 hit
InterProiView protein in InterPro
IPR010790 DUF1388
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR042180 IF_rod_dom_coil1B
IPR033183 NF-H
PANTHERiPTHR23214 PTHR23214, 2 hits
PfamiView protein in Pfam
PF07142 DUF1388, 8 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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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_and_isoforms">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: October 16, 2019
This is version 190 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

Complete proteome, Reference proteome

Documents

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