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Protein

Neurofilament medium polypeptide

Gene

NEFM

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

Enzyme and pathway databases

SIGNORiP07197

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

EuPathDBiHostDB:ENSG00000104722.13
HGNCiHGNC:7734 NEFM
MIMi162250 gene
neXtProtiNX_P07197

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

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) 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

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
ProteomicsDBi51962

2D gel databases

UCD-2DPAGEiP07197

PTM databases

iPTMnetiP07197
PhosphoSitePlusiP07197
SwissPalmiP07197

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiCAB010900
CAB012976
HPA022845
HPA023138

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110818, 50 interactors
IntActiP07197, 24 interactors
MINTiP07197
STRINGi9606.ENSP00000221166

Structurei

3D structure databases

ProteinModelPortaliP07197
SMRiP07197
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini101 – 412IF rodPROSITE-ProRule annotationAdd BLAST312
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 – 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.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IGME Eukaryota
ENOG410XPTM LUCA
GeneTreeiENSGT00910000143989
HOGENOMiHOG000230977
HOVERGENiHBG013015
InParanoidiP07197
KOiK04573
OMAiEERHNND
OrthoDBiEOG091G12MK
PhylomeDBiP07197
TreeFamiTF330122

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR006821 Intermed_filament_DNA-bd
IPR002957 Keratin_I
IPR027697 NF-M
PANTHERiPTHR23239 PTHR23239, 2 hits
PTHR23239:SF19 PTHR23239:SF19, 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

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

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 '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

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:
E7EMV2E7EMV2_HUMAN
Neurofilament medium polypeptide
NEFM
698Annotation score:

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 → 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
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

Similar proteinsi

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, 50 interactors
IntActiP07197, 24 interactors
MINTiP07197
STRINGi9606.ENSP00000221166

PTM databases

iPTMnetiP07197
PhosphoSitePlusiP07197
SwissPalmiP07197

Polymorphism and mutation databases

BioMutaiNEFM
DMDMi281185500

2D gel databases

UCD-2DPAGEiP07197

Proteomic databases

EPDiP07197
MaxQBiP07197
PaxDbiP07197
PeptideAtlasiP07197
PRIDEiP07197
ProteomicsDBi51962

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
EuPathDBiHostDB:ENSG00000104722.13
GeneCardsiNEFM
H-InvDBiHIX0034266
HIX0034491
HGNCiHGNC:7734 NEFM
HPAiCAB010900
CAB012976
HPA022845
HPA023138
MIMi162250 gene
neXtProtiNX_P07197
OpenTargetsiENSG00000104722
PharmGKBiPA162397442
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGME Eukaryota
ENOG410XPTM LUCA
GeneTreeiENSGT00910000143989
HOGENOMiHOG000230977
HOVERGENiHBG013015
InParanoidiP07197
KOiK04573
OMAiEERHNND
OrthoDBiEOG091G12MK
PhylomeDBiP07197
TreeFamiTF330122

Enzyme and pathway databases

SIGNORiP07197

Miscellaneous databases

ChiTaRSiNEFM human
GeneWikiiNEFM
GenomeRNAii4741
PROiPR:P07197
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR006821 Intermed_filament_DNA-bd
IPR002957 Keratin_I
IPR027697 NF-M
PANTHERiPTHR23239 PTHR23239, 2 hits
PTHR23239:SF19 PTHR23239:SF19, 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
ProtoNetiSearch...

Entry informationi

Entry nameiNFM_HUMAN
AccessioniPrimary (citable) accession number: P07197
Secondary accession number(s): B4DGN2, E9PBF7, Q4QRK6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: December 15, 2009
Last modified: November 7, 2018
This is version 190 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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