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Protein

Neurofilament medium polypeptide

Gene

NEFM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.

GO - Molecular functioni

  • microtubule binding Source: BHF-UCL
  • structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

  • axon development Source: InterPro
  • neurofilament bundle assembly Source: BHF-UCL
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104722-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Neurofilament medium polypeptide
Short name:
NF-M
Alternative name(s):
160 kDa neurofilament protein
Neurofilament 3
Neurofilament triplet M protein
Gene namesi
Name:NEFM
Synonyms:NEF3, NFM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:7734. NEFM.

Subcellular locationi

GO - Cellular componenti

  • axon Source: UniProtKB
  • neurofibrillary tangle Source: BHF-UCL
  • neurofilament Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament

Pathology & Biotechi

Organism-specific databases

DisGeNETi4741.
OpenTargetsiENSG00000104722.
PharmGKBiPA162397442.

Polymorphism and mutation databases

BioMutaiNEFM.
DMDMi281185500.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00000637942 – 916Neurofilament medium polypeptideAdd BLAST915

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineBy similarity1
Modified residuei30PhosphoserineBy similarity1
Modified residuei42Omega-N-methylarginineBy similarity1
Glycosylationi47O-linked (GlcNAc)By similarity1
Modified residuei99PhosphoserineBy similarity1
Modified residuei226PhosphoserineBy similarity1
Modified residuei320PhosphotyrosineBy similarity1
Modified residuei346PhosphoserineBy similarity1
Modified residuei418PhosphoserineBy similarity1
Glycosylationi431O-linked (GlcNAc)By 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

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

EPDiP07197.
MaxQBiP07197.
PaxDbiP07197.
PeptideAtlasiP07197.
PRIDEiP07197.

2D gel databases

UCD-2DPAGEP07197.

PTM databases

iPTMnetiP07197.
PhosphoSitePlusiP07197.
SwissPalmiP07197.

Expressioni

Gene expression databases

BgeeiENSG00000104722.
CleanExiHS_NEFM.
ExpressionAtlasiP07197. baseline and differential.
GenevisibleiP07197. HS.

Organism-specific databases

HPAiCAB010900.
CAB012976.
HPA022845.
HPA023138.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
JUNP054122EBI-1105035,EBI-852823
RB1P064002EBI-1105035,EBI-491274
SMAD2Q157963EBI-1105035,EBI-1040141
VIMP086703EBI-1105035,EBI-353844

GO - Molecular functioni

  • microtubule binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi110818. 42 interactors.
IntActiP07197. 22 interactors.
STRINGi9606.ENSP00000221166.

Structurei

3D structure databases

ProteinModelPortaliP07197.
SMRiP07197.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati614 – 6261Add BLAST13
Repeati627 – 6392Add BLAST13
Repeati640 – 6523Add BLAST13
Repeati653 – 6654Add BLAST13
Repeati666 – 6785Add BLAST13
Repeati679 – 6916Add BLAST13

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 104HeadAdd BLAST103
Regioni105 – 412RodAdd BLAST308
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

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IGME. Eukaryota.
ENOG410XPTM. LUCA.
GeneTreeiENSGT00830000128228.
HOGENOMiHOG000230977.
HOVERGENiHBG013015.
InParanoidiP07197.
KOiK04573.
OMAiIIEETRV.
OrthoDBiEOG091G12MK.
PhylomeDBiP07197.
TreeFamiTF330122.

Family and domain databases

InterProiIPR001664. IF.
IPR006821. Intermed_filament_DNA-bd.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
IPR027697. NF-M.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 3 hits.
PTHR23239:SF19. PTHR23239:SF19. 3 hits.
PfamiPF00038. Filament. 1 hit.
PF04732. Filament_head. 1 hit.
[Graphical view]
PRINTSiPR01248. TYPE1KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P07197-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti482V → A in CAA68276 (PubMed:3608989).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060732439P → T.Combined sources5 PublicationsCorresponds to variant rs196864dbSNPEnsembl.1
Natural variantiVAR_056024725P → Q.Corresponds to variant rs196863dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0463061 – 376Missing in isoform 2. 1 PublicationAdd BLAST376

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]
UniGeneiHs.458657.
Hs.730072.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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]
UniGeneiHs.458657.
Hs.730072.

3D structure databases

ProteinModelPortaliP07197.
SMRiP07197.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110818. 42 interactors.
IntActiP07197. 22 interactors.
STRINGi9606.ENSP00000221166.

PTM databases

iPTMnetiP07197.
PhosphoSitePlusiP07197.
SwissPalmiP07197.

Polymorphism and mutation databases

BioMutaiNEFM.
DMDMi281185500.

2D gel databases

UCD-2DPAGEP07197.

Proteomic databases

EPDiP07197.
MaxQBiP07197.
PaxDbiP07197.
PeptideAtlasiP07197.
PRIDEiP07197.

Protocols and materials databases

DNASUi4741.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4741.
DisGeNETi4741.
GeneCardsiNEFM.
H-InvDBHIX0034266.
HIX0034491.
HGNCiHGNC:7734. NEFM.
HPAiCAB010900.
CAB012976.
HPA022845.
HPA023138.
MIMi162250. gene.
neXtProtiNX_P07197.
OpenTargetsiENSG00000104722.
PharmGKBiPA162397442.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGME. Eukaryota.
ENOG410XPTM. LUCA.
GeneTreeiENSGT00830000128228.
HOGENOMiHOG000230977.
HOVERGENiHBG013015.
InParanoidiP07197.
KOiK04573.
OMAiIIEETRV.
OrthoDBiEOG091G12MK.
PhylomeDBiP07197.
TreeFamiTF330122.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104722-MONOMER.

Miscellaneous databases

ChiTaRSiNEFM. human.
GeneWikiiNEFM.
GenomeRNAii4741.
PROiP07197.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104722.
CleanExiHS_NEFM.
ExpressionAtlasiP07197. baseline and differential.
GenevisibleiP07197. HS.

Family and domain databases

InterProiIPR001664. IF.
IPR006821. Intermed_filament_DNA-bd.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
IPR027697. NF-M.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 3 hits.
PTHR23239:SF19. PTHR23239:SF19. 3 hits.
PfamiPF00038. Filament. 1 hit.
PF04732. Filament_head. 1 hit.
[Graphical view]
PRINTSiPR01248. TYPE1KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNFM_HUMAN
AccessioniPrimary (citable) accession number: P07197
Secondary accession number(s): B4DGN2, E9PBF7, Q4QRK6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: December 15, 2009
Last modified: November 30, 2016
This is version 175 of the entry and version 3 of the sequence. [Complete history]
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.

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.