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Protein

Neurofilament heavy polypeptide

Gene

Nefh

Organism
Mus musculus (Mouse)
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. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins.

GO - Molecular functioni

GO - Biological processi

  • axon development Source: BHF-UCL
  • intermediate filament bundle assembly Source: MGI
  • intermediate filament cytoskeleton organization Source: MGI
  • microtubule cytoskeleton organization Source: MGI
  • neurofilament bundle assembly Source: MGI
  • neurofilament cytoskeleton organization Source: MGI
  • peripheral nervous system neuron axonogenesis Source: MGI
  • regulation of organelle transport along microtubule Source: MGI
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Neurofilament heavy polypeptide
Short name:
NF-H
Alternative name(s):
200 kDa neurofilament protein
Neurofilament triplet H protein
Gene namesi
Name:Nefh
Synonyms:Kiaa0845, Nfh
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 11

Organism-specific databases

MGIiMGI:97309. Nefh.

Subcellular locationi

  • Cytoplasm By similarity

GO - Cellular componenti

  • axon Source: MGI
  • cytoplasm Source: MGI
  • mitochondrion Source: MGI
  • myelin sheath Source: UniProtKB
  • neurofibrillary tangle Source: MGI
  • neurofilament Source: MGI
  • postsynaptic density Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Intermediate filament

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000638011 – 1090Neurofilament heavy polypeptideAdd BLAST1090

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei74PhosphoserineCombined sources1
Modified residuei122PhosphoserineCombined sources1
Modified residuei345PhosphoserineBy similarity1
Modified residuei416PhosphoserineCombined sources1
Modified residuei419PhosphoserineCombined sources1
Modified residuei508PhosphoserineBy similarity1
Modified residuei523PhosphoserineBy similarity1
Modified residuei529PhosphoserineCombined sources1
Modified residuei535PhosphoserineCombined sources1
Modified residuei541PhosphoserineCombined sources1
Modified residuei547PhosphoserineCombined sources1
Modified residuei553PhosphoserineCombined sources1
Modified residuei559PhosphoserineCombined sources1
Modified residuei565PhosphoserineCombined sources1
Modified residuei571PhosphoserineCombined sources1
Modified residuei577PhosphoserineCombined sources1
Modified residuei583PhosphoserineCombined sources1
Modified residuei589PhosphoserineCombined sources1
Modified residuei595PhosphoserineCombined sources1
Modified residuei601PhosphoserineCombined sources1
Modified residuei607PhosphoserineCombined sources1
Modified residuei613PhosphoserineCombined sources1
Modified residuei619PhosphoserineCombined sources1
Modified residuei625PhosphoserineCombined sources1
Modified residuei631PhosphoserineCombined sources1
Modified residuei637PhosphoserineCombined sources1
Modified residuei643PhosphoserineCombined sources1
Modified residuei649PhosphoserineCombined sources1
Modified residuei655PhosphoserineCombined sources1
Modified residuei661PhosphoserineCombined sources1
Modified residuei667PhosphoserineCombined sources1
Modified residuei673PhosphoserineCombined sources1
Modified residuei679PhosphoserineCombined sources1
Modified residuei685PhosphoserineCombined sources1
Modified residuei691PhosphoserineCombined sources1
Modified residuei697PhosphoserineCombined sources1
Modified residuei703PhosphoserineCombined sources1
Modified residuei709PhosphoserineCombined sources1
Modified residuei715PhosphoserineCombined sources1
Modified residuei721PhosphoserineBy similarity1
Modified residuei727PhosphoserineCombined sources1
Modified residuei733PhosphoserineCombined sources1
Modified residuei739PhosphoserineCombined sources1
Modified residuei745PhosphoserineCombined sources1
Modified residuei751PhosphoserineCombined sources1
Modified residuei757PhosphoserineCombined sources1
Modified residuei763PhosphoserineCombined sources1
Modified residuei769PhosphoserineCombined sources1
Modified residuei783PhosphoserineCombined sources1
Modified residuei789PhosphoserineCombined sources1
Modified residuei795PhosphoserineCombined sources1
Modified residuei809PhosphoserineBy similarity1
Modified residuei815PhosphoserineCombined sources1
Modified residuei834PhosphoserineCombined sources1
Modified residuei839PhosphothreonineBy similarity1
Modified residuei859PhosphoserineCombined sources1
Modified residuei867PhosphoserineCombined sources1
Modified residuei888PhosphoserineCombined sources1
Modified residuei947PhosphoserineBy similarity1

Post-translational modificationi

There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.
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.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP19246.
MaxQBiP19246.
PaxDbiP19246.
PeptideAtlasiP19246.
PRIDEiP19246.

2D gel databases

UCD-2DPAGEP19246.

PTM databases

iPTMnetiP19246.
PhosphoSitePlusiP19246.

Expressioni

Gene expression databases

BgeeiENSMUSG00000020396.
CleanExiMM_NEFH.
GenevisibleiP19246. MM.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi237594. 4 interactors.
IntActiP19246. 2 interactors.
MINTiMINT-4103546.
STRINGi10090.ENSMUSP00000091061.

Structurei

3D structure databases

DisProtiDP00050.
ProteinModelPortaliP19246.
SMRiP19246.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati522 – 52716
Repeati528 – 53326
Repeati534 – 53936
Repeati540 – 54546
Repeati546 – 55156
Repeati552 – 55766
Repeati558 – 56376
Repeati564 – 56986
Repeati570 – 57596
Repeati576 – 581106
Repeati582 – 587116
Repeati588 – 593126
Repeati594 – 599136
Repeati600 – 605146
Repeati606 – 611156
Repeati612 – 617166
Repeati618 – 623176
Repeati624 – 629186
Repeati630 – 635196
Repeati636 – 641206
Repeati642 – 647216
Repeati648 – 653226
Repeati654 – 659236
Repeati660 – 665246
Repeati666 – 671256
Repeati672 – 677266
Repeati678 – 683276
Repeati684 – 689286
Repeati690 – 695296
Repeati696 – 701306
Repeati702 – 707316
Repeati708 – 713326
Repeati714 – 719336
Repeati720 – 725346
Repeati726 – 731356
Repeati732 – 737366
Repeati738 – 743376
Repeati744 – 749386
Repeati750 – 755396
Repeati756 – 761406
Repeati762 – 767416
Repeati768 – 773426
Repeati774 – 77943; approximate6
Repeati782 – 787446
Repeati788 – 793456
Repeati794 – 799466
Repeati808 – 813476
Repeati814 – 819486
Repeati833 – 838496
Repeati858 – 863506
Repeati866 – 871516
Repeati887 – 892526

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 98HeadAdd BLAST97
Regioni99 – 411RodAdd BLAST313
Regioni99 – 130Coil 1AAdd BLAST32
Regioni131 – 143Linker 1Add BLAST13
Regioni144 – 242Coil 1BAdd BLAST99
Regioni243 – 264Linker 12Add BLAST22
Regioni265 – 286Coil 2AAdd BLAST22
Regioni287 – 290Linker 24
Regioni291 – 411Coil 2BAdd BLAST121
Regioni412 – 1090TailAdd BLAST679
Regioni522 – 89252 X 6 AA approximate tandem repeats of K-S-P-[AGISV]-[EATK]-[APVQ]Add BLAST371

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi439 – 520Glu-rich (acidic)Add BLAST82
Compositional biasi890 – 1090Glu/Lys-richAdd BLAST201

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IGME. Eukaryota.
ENOG410XPTM. LUCA.
GeneTreeiENSGT00830000128228.
HOGENOMiHOG000230977.
HOVERGENiHBG013015.
InParanoidiP19246.
KOiK04574.
OMAiPMKEAKS.
OrthoDBiEOG091G12MK.
PhylomeDBiP19246.
TreeFamiTF330122.

Family and domain databases

InterProiIPR010790. DUF1388.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR033183. NF-H.
[Graphical view]
PANTHERiPTHR23214:SF1. PTHR23214:SF1. 2 hits.
PfamiPF07142. DUF1388. 14 hits.
PF00038. Filament. 1 hit.
[Graphical view]
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P19246-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMSFGSADAL LGAPFAPLHG GGSLHYSLSR KAGPGGTRSA AGSSSGFHSW
60 70 80 90 100
ARTSVSSVSA SPSRFRGAAS STDSLDTLSN GPEGCVVAAV AARSEKEQLQ
110 120 130 140 150
ALNDRFAGYI DKVRQLEAHN RSLEGEAAAL RQQQAGRAAM GELYEREVRE
160 170 180 190 200
MRGAVLRLGA ARGQLRLEQE HLLEDIAHVR QRLDEEARQR EEAEAAARAL
210 220 230 240 250
ARFAQEAEAA RVELQKKAQA LQEECGYLRR HHQEEVGELL GQIQGCGAAQ
260 270 280 290 300
AQAQAEARDA LKCDVTSALR EIRAQLEGHA VQSTLQSEEW FRVRLDRLSE
310 320 330 340 350
AAKVNTDAMR SAQEEITEYR RQLQARTTEL EALKSTKESL ERQRSELEDR
360 370 380 390 400
HQADIASYQD AIQQLDSELR NTKWEMAAQL REYQDLLNVK MALDIEIAAY
410 420 430 440 450
RKLLEGEECR IGFGPSPFSL TEGLPKIPSI STHIKVKSEE MIKVVEKSEK
460 470 480 490 500
ETVIVEGQTE EIRVTEGVTE EEDKEAQGQE GEEAEEGEEK EEEEGAAATS
510 520 530 540 550
PPAEEAASPE KETKSRVKEE AKSPGEAKSP GEAKSPAEAK SPGEAKSPGE
560 570 580 590 600
AKSPGEAKSP AEPKSPAEPK SPAEAKSPAE PKSPATVKSP GEAKSPSEAK
610 620 630 640 650
SPAEAKSPAE AKSPAEAKSP AEAKSPAEAK SPAEAKSPAT VKSPGEAKSP
660 670 680 690 700
SEAKSPAEAK SPAEAKSPAE AKSPAEVKSP GEAKSPAEPK SPAEAKSPAE
710 720 730 740 750
VKSPAEAKSP AEVKSPGEAK SPAAVKSPAE AKSPAAVKSP GEAKSPGEAK
760 770 780 790 800
SPAEAKSPAE AKSPIEVKSP EKAKTPVKEG AKSPAEAKSP EKAKSPVKED
810 820 830 840 850
IKPPAEAKSP EKAKSPVKEG AKPPEKAKPL DVKSPEAQTP VQEEAKHPTD
860 870 880 890 900
IRPPEQVKSP AKEKAKSPEK EEAKTSEKVA PKKEEVKSPV KEEVKAKEPP
910 920 930 940 950
KKVEEEKTLP TPKTEAKESK KDEAPKEAPK PKVEEKKETP TEKPKDSTAE
960 970 980 990 1000
AKKEEAGEKK KAVASEEETP AKLGVKEEAK PKEKTETTKT EAEDTKAKEP
1010 1020 1030 1040 1050
SKPTETEKPK KEEMPAAPEK KDTKEEKTTE SRKPEEKPKM EAKVKEDDKS
1060 1070 1080 1090
LSKEPSKPKT EKAEKSSSTD QKESQPPEKT TEDKATKGEK
Length:1,090
Mass (Da):116,994
Last modified:May 2, 2006 - v3
Checksum:iB2A7D7D36FF2F448
GO

Sequence cautioni

The sequence AAA39813 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAA83229 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti134 – 135QA → K in AAA39813 (PubMed:3220257).Curated2
Sequence conflicti202Missing in AAA39813 (PubMed:3220257).Curated1
Sequence conflicti284T → S in AAA39813 (PubMed:3220257).Curated1
Sequence conflicti495G → L in AAA39813 (PubMed:3220257).Curated1
Sequence conflicti519E → EEAKSPG in AAA39809 (PubMed:3145094).Curated1
Sequence conflicti519E → EEAKSPG in CAA83229 (Ref. 3) Curated1
Sequence conflicti549G → R in AAA39809 (PubMed:3145094).Curated1
Sequence conflicti549G → R in CAA83229 (Ref. 3) Curated1
Sequence conflicti694 – 717Missing in AAA39809 (PubMed:3145094).CuratedAdd BLAST24
Sequence conflicti694 – 717Missing in CAA83229 (Ref. 3) CuratedAdd BLAST24
Sequence conflicti817V → M in AAA39809 (PubMed:3145094).Curated1
Sequence conflicti817V → M in CAA83229 (Ref. 3) Curated1
Sequence conflicti817V → M in ABK96805 (Ref. 6) Curated1
Sequence conflicti846 – 847KH → ND in AAA39809 (PubMed:3145094).Curated2
Sequence conflicti846 – 847KH → ND in CAA83229 (Ref. 3) Curated2
Sequence conflicti846 – 847KH → ND in ABK96805 (Ref. 6) Curated2
Sequence conflicti846 – 847KH → TV in AAA39813 (PubMed:3220257).Curated2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M35131 mRNA. Translation: AAA39809.1.
M24496
, M23349, M24494, M24495 Genomic DNA. Translation: AAA39813.1. Different initiation.
Z31012 Genomic DNA. Translation: CAA83229.1. Different initiation.
AL645522 Genomic DNA. Translation: CAI25933.1.
EF101556 mRNA. Translation: ABK96805.1.
CCDSiCCDS36099.1.
PIRiJT0368. QFMSH.
RefSeqiNP_035034.2. NM_010904.3.
UniGeneiMm.298283.

Genome annotation databases

EnsembliENSMUST00000093369; ENSMUSP00000091061; ENSMUSG00000020396.
GeneIDi380684.
KEGGimmu:380684.
UCSCiuc007hvm.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M35131 mRNA. Translation: AAA39809.1.
M24496
, M23349, M24494, M24495 Genomic DNA. Translation: AAA39813.1. Different initiation.
Z31012 Genomic DNA. Translation: CAA83229.1. Different initiation.
AL645522 Genomic DNA. Translation: CAI25933.1.
EF101556 mRNA. Translation: ABK96805.1.
CCDSiCCDS36099.1.
PIRiJT0368. QFMSH.
RefSeqiNP_035034.2. NM_010904.3.
UniGeneiMm.298283.

3D structure databases

DisProtiDP00050.
ProteinModelPortaliP19246.
SMRiP19246.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi237594. 4 interactors.
IntActiP19246. 2 interactors.
MINTiMINT-4103546.
STRINGi10090.ENSMUSP00000091061.

PTM databases

iPTMnetiP19246.
PhosphoSitePlusiP19246.

2D gel databases

UCD-2DPAGEP19246.

Proteomic databases

EPDiP19246.
MaxQBiP19246.
PaxDbiP19246.
PeptideAtlasiP19246.
PRIDEiP19246.

Protocols and materials databases

DNASUi380684.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000093369; ENSMUSP00000091061; ENSMUSG00000020396.
GeneIDi380684.
KEGGimmu:380684.
UCSCiuc007hvm.1. mouse.

Organism-specific databases

CTDi4744.
MGIiMGI:97309. Nefh.
RougeiSearch...

Phylogenomic databases

eggNOGiENOG410IGME. Eukaryota.
ENOG410XPTM. LUCA.
GeneTreeiENSGT00830000128228.
HOGENOMiHOG000230977.
HOVERGENiHBG013015.
InParanoidiP19246.
KOiK04574.
OMAiPMKEAKS.
OrthoDBiEOG091G12MK.
PhylomeDBiP19246.
TreeFamiTF330122.

Miscellaneous databases

PROiP19246.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000020396.
CleanExiMM_NEFH.
GenevisibleiP19246. MM.

Family and domain databases

InterProiIPR010790. DUF1388.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR033183. NF-H.
[Graphical view]
PANTHERiPTHR23214:SF1. PTHR23214:SF1. 2 hits.
PfamiPF07142. DUF1388. 14 hits.
PF00038. Filament. 1 hit.
[Graphical view]
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNFH_MOUSE
AccessioniPrimary (citable) accession number: P19246
Secondary accession number(s): A1E2H9, Q5SVF6, Q61959
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: May 2, 2006
Last modified: November 2, 2016
This is version 157 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. 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.