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UniProtKB - P07197 (NFM_HUMAN)

Entry version 198 (18 Sep 2019)
Sequence version 3 (15 Dec 2009)
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Protein

Neurofilament medium polypeptide

Gene

NEFM

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.

<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

SIGNOR Signaling Network Open Resource

More...SIGNORi		P07197

<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 medium polypeptide
Short name:
NF-M
Alternative name(s):
160 kDa neurofilament protein
Neurofilament 3
Neurofilament triplet M 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:NEFM
Synonyms:NEF3, NFM
<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 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_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

Human Gene Nomenclature Database

More...HGNCi		HGNC:7734 NEFM

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		162250 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P07197

<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

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

Organism-specific databases

DisGeNET

More...DisGeNETi		4741

Open Targets

More...OpenTargetsi		ENSG00000104722

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162397442

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P07197

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NEFM

Domain mapping of disease mutations (DMDM)

More...DMDMi		281185500

<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 methionineiRemovedBy similarity
<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_00000637942 – 916Neurofilament medium polypeptideAdd BLAST915

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-acetylserineBy similarity1
Modified residuei30PhosphoserineBy similarity1
Modified residuei42Omega-N-methylarginineBy similarity1
<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>Glycosylationi47O-linked (GlcNAc) threonineBy similarity1
Modified residuei99PhosphoserineBy similarity1
Modified residuei226PhosphoserineBy similarity1
Modified residuei320PhosphotyrosineBy similarity1
Modified residuei346PhosphoserineBy similarity1
Modified residuei418PhosphoserineBy similarity1
Glycosylationi431O-linked (GlcNAc) threonineBy similarity1
Modified residuei467PhosphoserineBy similarity1
Modified residuei483PhosphoserineBy similarity1
Modified residuei511PhosphoserineBy similarity1
Modified residuei545PhosphoserineBy similarity1
Modified residuei553PhosphoserineBy similarity1
Modified residuei558PhosphoserineBy similarity1
Modified residuei559PhosphoserineBy similarity1
Modified residuei571PhosphothreonineBy similarity1
Modified residuei641PhosphoserineBy similarity1
Modified residuei646PhosphoserineBy similarity1
Modified residuei680PhosphoserineBy similarity1
Modified residuei685PhosphoserineBy similarity1
Modified residuei736PhosphoserineBy similarity1
Modified residuei783PhosphoserineBy similarity1
Modified residuei821PhosphoserineBy similarity1
Modified residuei837PhosphoserineCombined sources1

<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, NFM is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFM results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.
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.
Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.

Keywords - PTMi

Acetylation, Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P07197

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P07197

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P07197

MaxQB - The MaxQuant DataBase

More...MaxQBi		P07197

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

More...PaxDbi		P07197

PeptideAtlas

More...PeptideAtlasi		P07197

PRoteomics IDEntifications database

More...PRIDEi		P07197

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		19213
51962 [P07197-1]

2D gel databases

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		P07197

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P07197

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

More...PhosphoSitePlusi		P07197

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P07197

<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		ENSG00000104722 Expressed in 159 organ(s), highest expression level in dorsal root ganglion

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P07197 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P07197 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB010900
CAB012976
HPA022845
HPA023138

<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%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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		110818, 52 interactors

Protein interaction database and analysis system

More...IntActi		P07197, 47 interactors

Molecular INTeraction database

More...MINTi		P07197

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000221166

<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		P07197

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>Domaini101 – 412IF rodPROSITE-ProRule annotationAdd BLAST312
<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>Repeati614 – 6261Add BLAST13
Repeati627 – 6392Add BLAST13
Repeati640 – 6523Add BLAST13
Repeati653 – 6654Add BLAST13
Repeati666 – 6785Add BLAST13
Repeati679 – 6916Add BLAST13

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 – 104HeadAdd BLAST103
Regioni105 – 136Coil 1AAdd BLAST32
Regioni137 – 149Linker 1Add BLAST13
Regioni150 – 248Coil 1BAdd BLAST99
Regioni249 – 265Linker 12Add BLAST17
Regioni266 – 287Coil 2AAdd BLAST22
Regioni288 – 291Linker 24
Regioni292 – 412Coil 2BAdd BLAST121
Regioni413 – 916TailAdd BLAST504
Regioni614 – 6916 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK]Add BLAST78

<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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154418

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000230977

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P07197

KEGG Orthology (KO)

More...KOi		K04573

Identification of Orthologs from Complete Genome Data

More...OMAi		EERHNND

Database of Orthologous Groups

More...OrthoDBi		898483at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P07197

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
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR042180 IF_rod_dom_coil1B
IPR006821 Intermed_filament_DNA-bd
IPR002957 Keratin_I
IPR027697 NF-M

The PANTHER Classification System

More...PANTHERi		PTHR45652:SF3 PTHR45652:SF3, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00038 Filament, 1 hit
PF04732 Filament_head, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01248 TYPE1KERATIN

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.

<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 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

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

Isoform 1 (identifier: P07197-1) [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
MSYTLDSLGN PSAYRRVTET RSSFSRVSGS PSSGFRSQSW SRGSPSTVSS 
        60         70         80         90        100
SYKRSMLAPR LAYSSAMLSS AESSLDFSQS SSLLNGGSGP GGDYKLSRSN 
       110        120        130        140        150
EKEQLQGLND RFAGYIEKVH YLEQQNKEIE AEIQALRQKQ ASHAQLGDAY 
       160        170        180        190        200
DQEIRELRAT LEMVNHEKAQ VQLDSDHLEE DIHRLKERFE EEARLRDDTE 
       210        220        230        240        250
AAIRALRKDI EEASLVKVEL DKKVQSLQDE VAFLRSNHEE EVADLLAQIQ 
       260        270        280        290        300
ASHITVERKD YLKTDISTAL KEIRSQLESH SDQNMHQAEE WFKCRYAKLT 
       310        320        330        340        350
EAAEQNKEAI RSAKEEIAEY RRQLQSKSIE LESVRGTKES LERQLSDIEE 
       360        370        380        390        400
RHNHDLSSYQ DTIQQLENEL RGTKWEMARH LREYQDLLNV KMALDIEIAA 
       410        420        430        440        450
YRKLLEGEET RFSTFAGSIT GPLYTHRPPI TISSKIQKPK VEAPKLKVQH 
       460        470        480        490        500
KFVEEIIEET KVEDEKSEME EALTAITEEL AVSMKEEKKE AAEEKEEEPE 
       510        520        530        540        550
AEEEEVAAKK SPVKATAPEV KEEEGEKEEE EGQEEEEEED EGAKSDQAEE 
       560        570        580        590        600
GGSEKEGSSE KEEGEQEEGE TEAEAEGEEA EAKEEKKVEE KSEEVATKEE 
       610        620        630        640        650
LVADAKVEKP EKAKSPVPKS PVEEKGKSPV PKSPVEEKGK SPVPKSPVEE 
       660        670        680        690        700
KGKSPVPKSP VEEKGKSPVS KSPVEEKAKS PVPKSPVEEA KSKAEVGKGE 
       710        720        730        740        750
QKEEEEKEVK EAPKEEKVEK KEEKPKDVPE KKKAESPVKE EAVAEVVTIT 
       760        770        780        790        800
KSVKVHLEKE TKEEGKPLQQ EKEKEKAGGE GGSEEEGSDK GAKGSRKEDI 
       810        820        830        840        850
AVNGEVEGKE EVEQETKEKG SGREEEKGVV TNGLDLSPAD EKKGGDKSEE 
       860        870        880        890        900
KVVVTKTVEK ITSEGGDGAT KYITKSVTVT QKVEEHEETF EEKLVSTKKV 
       910 
EKVTSHAIVK EVTQSD
Length:916
Mass (Da):102,472
Last modified:December 15, 2009 - 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:i187B16CA6C6BF092
GO
Isoform 2 (identifier: P07197-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-376: Missing.

Note: No experimental confirmation available.
Show »
Length:540
Mass (Da):59,468
Checksum:i8CBBDA0C4D31F90F
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
E7ESP9E7ESP9_HUMAN
Neurofilament medium polypeptide
NEFM
877Annotation score:

Annotation score:2 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>
E7EMV2E7EMV2_HUMAN
Neurofilament medium polypeptide
NEFM
698Annotation score:

Annotation score:2 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 conflicti482V → A in CAA68276 (PubMed:3608989).Curated1

Natural variant

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_060732439P → TCombined sources5 PublicationsCorresponds to variant dbSNP:rs196864Ensembl.1
Natural variantiVAR_056024725P → Q. Corresponds to variant dbSNP:rs196863EnsemblClinVar.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_0463061 – 376Missing in isoform 2. 1 PublicationAdd BLAST376

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
Y00067 Genomic DNA Translation: CAA68276.1
EF560736 mRNA Translation: ABQ59046.1
AK294681 mRNA Translation: BAG57843.1
AF106564 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63602.1
BC096757 mRNA Translation: AAH96757.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47831.1 [P07197-2]
CCDS6046.1 [P07197-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A27864

NCBI Reference Sequences

More...RefSeqi		NP_005373.2, NM_005382.2 [P07197-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000221166; ENSP00000221166; ENSG00000104722 [P07197-1]
ENST00000433454; ENSP00000412295; ENSG00000104722 [P07197-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4741

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4741

UCSC genome browser

More...UCSCi		uc003xed.5 human [P07197-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y00067 Genomic DNA Translation: CAA68276.1
EF560736 mRNA Translation: ABQ59046.1
AK294681 mRNA Translation: BAG57843.1
AF106564 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63602.1
BC096757 mRNA Translation: AAH96757.1
CCDSiCCDS47831.1 [P07197-2]
CCDS6046.1 [P07197-1]
PIRiA27864
RefSeqiNP_005373.2, NM_005382.2 [P07197-1]

3D structure databases

SMRiP07197
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110818, 52 interactors
IntActiP07197, 47 interactors
MINTiP07197
STRINGi9606.ENSP00000221166

PTM databases

iPTMnetiP07197
PhosphoSitePlusiP07197
SwissPalmiP07197

Polymorphism and mutation databases

BioMutaiNEFM
DMDMi281185500

2D gel databases

UCD-2DPAGEiP07197

Proteomic databases

EPDiP07197
jPOSTiP07197
MassIVEiP07197
MaxQBiP07197
PaxDbiP07197
PeptideAtlasiP07197
PRIDEiP07197
ProteomicsDBi19213
51962 [P07197-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		4741

Genome annotation databases

EnsembliENST00000221166; ENSP00000221166; ENSG00000104722 [P07197-1]
ENST00000433454; ENSP00000412295; ENSG00000104722 [P07197-2]
GeneIDi4741
KEGGihsa:4741
UCSCiuc003xed.5 human [P07197-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4741
DisGeNETi4741

GeneCards: human genes, protein and diseases

More...GeneCardsi		NEFM
HGNCiHGNC:7734 NEFM
HPAiCAB010900
CAB012976
HPA022845
HPA023138
MIMi162250 gene
neXtProtiNX_P07197
OpenTargetsiENSG00000104722
PharmGKBiPA162397442

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IGME Eukaryota
ENOG410XPTM LUCA
GeneTreeiENSGT00940000154418
HOGENOMiHOG000230977
InParanoidiP07197
KOiK04573
OMAiEERHNND
OrthoDBi898483at2759
PhylomeDBiP07197
TreeFamiTF330122

Enzyme and pathway databases

SIGNORiP07197

Miscellaneous databases

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

More...ChiTaRSi		NEFM human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NEFM

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

More...GenomeRNAii		4741
PharosiP07197

Protein Ontology

More...PROi		PR:P07197

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000104722 Expressed in 159 organ(s), highest expression level in dorsal root ganglion
ExpressionAtlasiP07197 baseline and differential
GenevisibleiP07197 HS

Family and domain databases

Gene3Di1.20.5.1160, 1 hit
InterProiView protein in InterPro
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR042180 IF_rod_dom_coil1B
IPR006821 Intermed_filament_DNA-bd
IPR002957 Keratin_I
IPR027697 NF-M
PANTHERiPTHR45652:SF3 PTHR45652:SF3, 2 hits
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PF04732 Filament_head, 1 hit
PRINTSiPR01248 TYPE1KERATIN
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...

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 nameiNFM_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: P07197
Secondary accession number(s): B4DGN2, E9PBF7, Q4QRK6
<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: December 15, 2009
Last modified: September 18, 2019
This is version 198 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. 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 8
    Human chromosome 8: 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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