Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Neurofilament light polypeptide

Gene

NEFL

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.

Miscellaneous

NF-L is the most abundant of the three neurofilament proteins and, like the other nonepithelial intermediate filament proteins, it can form homopolymeric 10-nm filaments.

<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

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-438066 Unblocking of NMDA receptors, glutamate binding and activation
R-HSA-442729 CREB phosphorylation through the activation of CaMKII
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-5673001 RAF/MAP kinase cascade

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P07196

<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 light polypeptide
Short name:
NF-L
Alternative name(s):
68 kDa neurofilament protein
Neurofilament triplet L 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:NEFL
Synonyms:NF68, NFL
<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 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000277586.1

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7739 NEFL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
162280 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P07196

<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; 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

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

Charcot-Marie-Tooth disease 1F (CMT1F)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dominant demyelinating 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). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years).
See also OMIM:607734
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_0160188P → L in CMT1F. 1 PublicationCorresponds to variant dbSNP:rs61491953EnsemblClinVar.1
Natural variantiVAR_0160198P → Q in CMT1F. 1 PublicationCorresponds to variant dbSNP:rs61491953EnsemblClinVar.1
Natural variantiVAR_01602290E → K in CMT1F. 1 PublicationCorresponds to variant dbSNP:rs58332872EnsemblClinVar.1
Natural variantiVAR_01602398N → S in CMT1F. 1 PublicationCorresponds to variant dbSNP:rs58982919EnsemblClinVar.1
Natural variantiVAR_016025527Missing in CMT1F. 1 Publication1
Charcot-Marie-Tooth disease 2E (CMT2E)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dominant 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.
See also OMIM:607684
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01602122P → S in CMT2E. 2 PublicationsCorresponds to variant dbSNP:rs28928910EnsemblClinVar.1
Natural variantiVAR_009703332Q → P in CMT2E. 1 PublicationCorresponds to variant dbSNP:rs59443585EnsemblClinVar.1
Natural variantiVAR_021613336L → P in CMT2E. 1 PublicationCorresponds to variant dbSNP:rs587777881EnsemblClinVar.1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
4747

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

More...
GeneReviewsi
NEFL

MalaCards human disease database

More...
MalaCardsi
NEFL
MIMi607684 phenotype
607734 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000277586

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

More...
Orphaneti
99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E
101085 Charcot-Marie-Tooth disease type 1F
228374 Charcot-Marie-Tooth disease type 2B5

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31542

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

More...
DMDMi
62511894

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00000637872 – 543Neurofilament light polypeptideAdd BLAST542

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 residuei2N-acetylserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi21O-linked (GlcNAc) threonineBy similarity1
Modified residuei23Asymmetric dimethylarginine; alternateBy similarity1
Modified residuei23Omega-N-methylarginine; alternateBy similarity1
Glycosylationi27O-linked (GlcNAc) serineBy similarity1
Modified residuei30Omega-N-methylarginineBy similarity1
Modified residuei43PhosphotyrosineBy similarity1
Modified residuei56PhosphoserineBy similarity1
Modified residuei67PhosphoserineBy similarity1
Modified residuei103PhosphoserineBy similarity1
Modified residuei472PhosphoserineBy similarity1
Modified residuei502PhosphoserineBy similarity1
Modified residuei520PhosphothreonineBy 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

O-glycosylated.By similarity
Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.1 Publication
Ubiquitinated in the presence of TRIM2 and UBE2D1.By similarity

Keywords - PTMi

Acetylation, Glycoprotein, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P07196

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P07196

PeptideAtlas

More...
PeptideAtlasi
P07196

PRoteomics IDEntifications database

More...
PRIDEi
P07196

ProteomicsDB human proteome resource

More...
ProteomicsDBi
51961

2D gel databases

University College Dublin 2-DE Proteome Database

More...
UCD-2DPAGEi
P07196

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P07196

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

More...
PhosphoSitePlusi
P07196

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P07196

<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
ENSG00000277586 Expressed in 198 organ(s), highest expression level in dorsal root ganglion

CleanEx database of gene expression profiles

More...
CleanExi
HS_NEFL

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P07196 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P07196 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA014850
HPA015021

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ARHGEF28. Interacts with TRIM2.By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110822, 52 interactors

Protein interaction database and analysis system

More...
IntActi
P07196, 43 interactors

Molecular INTeraction database

More...
MINTi
P07196

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P07196

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

More...
SMRi
P07196

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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>Domaini90 – 400IF rodPROSITE-ProRule annotationAdd BLAST311

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>Regioni2 – 92HeadAdd BLAST91
Regioni93 – 124Coil 1AAdd BLAST32
Regioni125 – 137Linker 1Add BLAST13
Regioni138 – 234Coil 1BAdd BLAST97
Regioni235 – 252Linker 12Add BLAST18
Regioni253 – 271Coil 2AAdd BLAST19
Regioni272 – 280Linker 29
Regioni281 – 396Coil 2BAdd BLAST116
Regioni381 – 391Epitope; recognized by IF-specific monoclonal antibodyAdd BLAST11
Regioni397 – 543TailAdd BLAST147
Regioni397 – 443Tail, subdomain AAdd BLAST47
Regioni444 – 543Tail, subdomain B (acidic)Add BLAST100

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The extra mass and high charge density that distinguish the neurofilament proteins from all other intermediate filament proteins are due to the tailpiece extensions. This region may form a charged scaffolding structure suitable for interaction with other neuronal components or ions.

<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

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156208

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG013015

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P07196

KEGG Orthology (KO)

More...
KOi
K04572

Identification of Orthologs from Complete Genome Data

More...
OMAi
PTYYTSH

Database of Orthologous Groups

More...
OrthoDBi
EOG091G12MK

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P07196

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR006821 Intermed_filament_DNA-bd
IPR027692 NF-L

The PANTHER Classification System

More...
PANTHERi
PTHR23239 PTHR23239, 1 hit
PTHR23239:SF22 PTHR23239:SF22, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00038 Filament, 1 hit
PF04732 Filament_head, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P07196-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSSFSYEPYY STSYKRRYVE TPRVHISSVR SGYSTARSAY SSYSAPVSSS
60 70 80 90 100
LSVRRSYSSS SGSLMPSLEN LDLSQVAAIS NDLKSIRTQE KAQLQDLNDR
110 120 130 140 150
FASFIERVHE LEQQNKVLEA ELLVLRQKHS EPSRFRALYE QEIRDLRLAA
160 170 180 190 200
EDATNEKQAL QGEREGLEET LRNLQARYEE EVLSREDAEG RLMEARKGAD
210 220 230 240 250
EAALARAELE KRIDSLMDEI SFLKKVHEEE IAELQAQIQY AQISVEMDVT
260 270 280 290 300
KPDLSAALKD IRAQYEKLAA KNMQNAEEWF KSRFTVLTES AAKNTDAVRA
310 320 330 340 350
AKDEVSESRR LLKAKTLEIE ACRGMNEALE KQLQELEDKQ NADISAMQDT
360 370 380 390 400
INKLENELRT TKSEMARYLK EYQDLLNVKM ALDIEIAAYR KLLEGEETRL
410 420 430 440 450
SFTSVGSITS GYSQSSQVFG RSAYGGLQTS SYLMSTRSFP SYYTSHVQEE
460 470 480 490 500
QIEVEETIEA AKAEEAKDEP PSEGEAEEEE KDKEEAEEEE AAEEEEAAKE
510 520 530 540
ESEEAKEEEE GGEGEEGEET KEAEEEEKKV EGAGEEQAAK KKD
Length:543
Mass (Da):61,517
Last modified:January 23, 2007 - v3
<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:i98C1712D8ACFF33A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X0W2A0A087X0W2_HUMAN
Neurofilament light polypeptide
NEFL
284Annotation score:

Annotation score:1 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>
A0A0S2Z436A0A0S2Z436_HUMAN
Neurofilament light polypeptide iso...
NEFL
284Annotation score:

Annotation score:1 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 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 conflicti28Missing in CAA29097 (PubMed:3034332).Curated1
Sequence conflicti155N → TN (PubMed:3034332).Curated1
Sequence conflicti161Q → R in CAA29097 (PubMed:3034332).Curated1
Sequence conflicti165E → EE in CAA29097 (PubMed:3034332).Curated1
Sequence conflicti195A → R in CAA29097 (PubMed:3034332).Curated1
Sequence conflicti452I → T in CAA29097 (PubMed:3034332).Curated1
Sequence conflicti461A → S in CAA29097 (PubMed:3034332).Curated1
Sequence conflicti472S → D AA sequence (PubMed:6135695).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0160177E → K in a Charcot-Marie-Tooth disease patient. 1 PublicationCorresponds to variant dbSNP:rs57848467EnsemblClinVar.1
Natural variantiVAR_0160188P → L in CMT1F. 1 PublicationCorresponds to variant dbSNP:rs61491953EnsemblClinVar.1
Natural variantiVAR_0160198P → Q in CMT1F. 1 PublicationCorresponds to variant dbSNP:rs61491953EnsemblClinVar.1
Natural variantiVAR_0160208P → R in CMT2E and CMT1F. 3 PublicationsCorresponds to variant dbSNP:rs60261494EnsemblClinVar.1
Natural variantiVAR_01602122P → S in CMT2E. 2 PublicationsCorresponds to variant dbSNP:rs28928910EnsemblClinVar.1
Natural variantiVAR_01602290E → K in CMT1F. 1 PublicationCorresponds to variant dbSNP:rs58332872EnsemblClinVar.1
Natural variantiVAR_01602398N → S in CMT1F. 1 PublicationCorresponds to variant dbSNP:rs58982919EnsemblClinVar.1
Natural variantiVAR_009703332Q → P in CMT2E. 1 PublicationCorresponds to variant dbSNP:rs59443585EnsemblClinVar.1
Natural variantiVAR_021613336L → P in CMT2E. 1 PublicationCorresponds to variant dbSNP:rs587777881EnsemblClinVar.1
Natural variantiVAR_021614396E → K in CMT1F and CMT2E. 3 PublicationsCorresponds to variant dbSNP:rs62636503EnsemblClinVar.1
Natural variantiVAR_016024468D → N1 PublicationCorresponds to variant dbSNP:rs57153321EnsemblClinVar.1
Natural variantiVAR_016025527Missing in CMT1F. 1 Publication1

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
X05608 Genomic DNA Translation: CAA29097.1
AY156690 mRNA Translation: AAN74826.1
AC107373 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63598.1
CH471080 Genomic DNA Translation: EAW63599.1
CH471080 Genomic DNA Translation: EAW63600.1
BC039237 mRNA Translation: AAH39237.1
S70309 Genomic DNA Translation: AAD14057.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS75712.1

Protein sequence database of the Protein Information Resource

More...
PIRi
S07144

NCBI Reference Sequences

More...
RefSeqi
NP_006149.2, NM_006158.4

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.521461

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000610854; ENSP00000482169; ENSG00000277586

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4747

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4747

UCSC genome browser

More...
UCSCi
uc033bfe.2 human

Keywords - Coding sequence diversityi

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

Inherited peripheral neuropathies mutation db
Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X05608 Genomic DNA Translation: CAA29097.1
AY156690 mRNA Translation: AAN74826.1
AC107373 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63598.1
CH471080 Genomic DNA Translation: EAW63599.1
CH471080 Genomic DNA Translation: EAW63600.1
BC039237 mRNA Translation: AAH39237.1
S70309 Genomic DNA Translation: AAD14057.1
CCDSiCCDS75712.1
PIRiS07144
RefSeqiNP_006149.2, NM_006158.4
UniGeneiHs.521461

3D structure databases

ProteinModelPortaliP07196
SMRiP07196
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110822, 52 interactors
IntActiP07196, 43 interactors
MINTiP07196

PTM databases

iPTMnetiP07196
PhosphoSitePlusiP07196
SwissPalmiP07196

Polymorphism and mutation databases

DMDMi62511894

2D gel databases

UCD-2DPAGEiP07196

Proteomic databases

EPDiP07196
MaxQBiP07196
PeptideAtlasiP07196
PRIDEiP07196
ProteomicsDBi51961

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4747
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000610854; ENSP00000482169; ENSG00000277586
GeneIDi4747
KEGGihsa:4747
UCSCiuc033bfe.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4747
DisGeNETi4747
EuPathDBiHostDB:ENSG00000277586.1

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NEFL
GeneReviewsiNEFL
HGNCiHGNC:7739 NEFL
HPAiHPA014850
HPA015021
MalaCardsiNEFL
MIMi162280 gene
607684 phenotype
607734 phenotype
neXtProtiNX_P07196
OpenTargetsiENSG00000277586
Orphaneti99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E
101085 Charcot-Marie-Tooth disease type 1F
228374 Charcot-Marie-Tooth disease type 2B5
PharmGKBiPA31542

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000156208
HOVERGENiHBG013015
InParanoidiP07196
KOiK04572
OMAiPTYYTSH
OrthoDBiEOG091G12MK
PhylomeDBiP07196

Enzyme and pathway databases

ReactomeiR-HSA-438066 Unblocking of NMDA receptors, glutamate binding and activation
R-HSA-442729 CREB phosphorylation through the activation of CaMKII
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-5673001 RAF/MAP kinase cascade
SIGNORiP07196

Miscellaneous databases

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

More...
ChiTaRSi
NEFL human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NEFL

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

More...
GenomeRNAii
4747

Protein Ontology

More...
PROi
PR:P07196

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000277586 Expressed in 198 organ(s), highest expression level in dorsal root ganglion
CleanExiHS_NEFL
ExpressionAtlasiP07196 baseline and differential
GenevisibleiP07196 HS

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR006821 Intermed_filament_DNA-bd
IPR027692 NF-L
PANTHERiPTHR23239 PTHR23239, 1 hit
PTHR23239:SF22 PTHR23239:SF22, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PF04732 Filament_head, 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

More...
ProtoNeti
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 nameiNFL_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: P07196
Secondary accession number(s): B9ZVN2, Q16154, Q8IU72
<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: April 1, 1988
Last sequence update: January 23, 2007
Last modified: December 5, 2018
This is version 207 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again