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P12036

- NFH_HUMAN

UniProt

P12036 - NFH_HUMAN

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Protein

Neurofilament heavy polypeptide

Gene

NEFH

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. dynein binding Source: BHF-UCL
  2. kinesin binding Source: BHF-UCL
  3. microtubule binding Source: BHF-UCL
  4. protein binding, bridging Source: BHF-UCL
  5. protein kinase binding Source: BHF-UCL
  6. structural constituent of cytoskeleton Source: BHF-UCL
  7. structural molecule activity Source: BHF-UCL

GO - Biological processi

  1. axon development Source: BHF-UCL
  2. axonogenesis Source: BHF-UCL
  3. cell death Source: UniProtKB-KW
  4. cell projection assembly Source: BHF-UCL
  5. microtubule cytoskeleton organization Source: Ensembl
  6. neurofilament bundle assembly Source: BHF-UCL
  7. peripheral nervous system neuron axonogenesis Source: Ensembl
  8. regulation of organelle transport along microtubule Source: BHF-UCL
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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:7737. NEFH.

Subcellular locationi

GO - Cellular componenti

  1. axon Source: UniProtKB
  2. cytoplasm Source: BHF-UCL
  3. mitochondrion Source: Ensembl
  4. neurofibrillary tangle Source: BHF-UCL
  5. neurofilament Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament

Pathology & Biotechi

Involvement in diseasei

Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti796 – 7961Missing in ALS. 1 Publication
VAR_023063

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease mutation, Neurodegeneration

Organism-specific databases

MIMi105400. phenotype.
Orphaneti803. Amyotrophic lateral sclerosis.
PharmGKBiPA31540.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10261026Neurofilament heavy polypeptidePRO_0000063800Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei532 – 5321PhosphoserineBy similarity
Modified residuei546 – 5461PhosphoserineBy similarity
Modified residuei560 – 5601PhosphoserineBy similarity
Modified residuei566 – 5661PhosphoserineBy similarity
Modified residuei580 – 5801PhosphoserineBy similarity
Modified residuei594 – 5941PhosphoserineBy similarity
Modified residuei600 – 6001PhosphoserineBy similarity
Modified residuei606 – 6061PhosphoserineBy similarity
Modified residuei614 – 6141PhosphoserineBy similarity
Modified residuei620 – 6201PhosphoserineBy similarity
Modified residuei628 – 6281PhosphoserineBy similarity
Modified residuei634 – 6341PhosphoserineBy similarity
Modified residuei640 – 6401PhosphoserineBy similarity
Modified residuei648 – 6481PhosphoserineBy similarity
Modified residuei654 – 6541PhosphoserineBy similarity
Modified residuei660 – 6601PhosphoserineBy similarity
Modified residuei674 – 6741PhosphoserineBy similarity
Modified residuei682 – 6821PhosphoserineBy similarity
Modified residuei688 – 6881PhosphoserineBy similarity
Modified residuei696 – 6961PhosphoserineBy similarity
Modified residuei702 – 7021PhosphoserineBy similarity
Modified residuei710 – 7101PhosphoserineBy similarity
Modified residuei724 – 7241PhosphoserineBy similarity
Modified residuei769 – 7691PhosphoserineBy similarity
Modified residuei801 – 8011PhosphoserineBy similarity
Modified residuei828 – 8281PhosphoserineBy similarity

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.1 Publication
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.1 Publication
Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP12036.
PRIDEiP12036.

2D gel databases

UCD-2DPAGEP12036.

PTM databases

PhosphoSiteiP12036.

Expressioni

Gene expression databases

BgeeiP12036.
CleanExiHS_NEFH.
GenevestigatoriP12036.

Organism-specific databases

HPAiCAB007786.

Interactioni

Protein-protein interaction databases

BioGridi110819. 13 interactions.
IntActiP12036. 14 interactions.
STRINGi9606.ENSP00000311997.

Structurei

3D structure databases

ProteinModelPortaliP12036.
SMRiP12036. Positions 93-245, 266-408.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati525 – 53061
Repeati531 – 53662
Repeati539 – 54463
Repeati545 – 55064
Repeati559 – 56465
Repeati573 – 57866
Repeati579 – 58467
Repeati593 – 59868
Repeati599 – 60469
Repeati613 – 618610
Repeati627 – 632611
Repeati633 – 638612
Repeati647 – 652613
Repeati653 – 658614
Repeati667 – 672615
Repeati673 – 678616
Repeati681 – 686617
Repeati687 – 692618
Repeati695 – 700619
Repeati701 – 706620
Repeati709 – 714621
Repeati715 – 720622
Repeati723 – 728623
Repeati729 – 734624
Repeati743 – 748625
Repeati751 – 756626
Repeati768 – 773627
Repeati792 – 797628
Repeati800 – 805629
Repeati827 – 832630

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 100100HeadAdd
BLAST
Regioni101 – 413313RodAdd
BLAST
Regioni101 – 13232Coil 1AAdd
BLAST
Regioni133 – 14513Linker 1Add
BLAST
Regioni146 – 24499Coil 1BAdd
BLAST
Regioni245 – 26622Linker 12Add
BLAST
Regioni267 – 28822Coil 2AAdd
BLAST
Regioni289 – 2924Linker 2
Regioni293 – 413121Coil 2BAdd
BLAST
Regioni414 – 1026613TailAdd
BLAST
Regioni525 – 83230830 X 6 AA repeats of K-S-P-[AEPV]-[EAK]-[AEVK]Add
BLAST

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000230977.
HOVERGENiHBG013015.
InParanoidiP12036.
KOiK04574.
OrthoDBiEOG7GQXVW.
PhylomeDBiP12036.
TreeFamiTF330122.

Family and domain databases

InterProiIPR010790. DUF1388.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
[Graphical view]
PfamiPF07142. DUF1388. 3 hits.
PF00038. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P12036) [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
MMSFGGADAL LGAPFAPLHG GGSLHYALAR KGGAGGTRSA AGSSSGFHSW
60 70 80 90 100
TRTSVSSVSA SPSRFRGAGA ASSTDSLDTL SNGPEGCMVA VATSRSEKEQ
110 120 130 140 150
LQALNDRFAG YIDKVRQLEA HNRSLEGEAA ALRQQQAGRS AMGELYEREV
160 170 180 190 200
REMRGAVLRL GAARGQLRLE QEHLLEDIAH VRQRLDDEAR QREEAEAAAR
210 220 230 240 250
ALARFAQEAE AARVDLQKKA QALQEECGYL RRHHQEEVGE LLGQIQGSGA
260 270 280 290 300
AQAQMQAETR DALKCDVTSA LREIRAQLEG HAVQSTLQSE EWFRVRLDRL
310 320 330 340 350
SEAAKVNTDA MRSAQEEITE YRRQLQARTT ELEALKSTKD SLERQRSELE
360 370 380 390 400
DRHQADIASY QEAIQQLDAE LRNTKWEMAA QLREYQDLLN VKMALDIEIA
410 420 430 440 450
AYRKLLEGEE CRIGFGPIPF SLPEGLPKIP SVSTHIKVKS EEKIKVVEKS
460 470 480 490 500
EKETVIVEEQ TEETQVTEEV TEEEEKEAKE EEGKEEEGGE EEEAEGGEEE
510 520 530 540 550
TKSPPAEEAA SPEKEAKSPV KEEAKSPAEA KSPEKEEAKS PAEVKSPEKA
560 570 580 590 600
KSPAKEEAKS PPEAKSPEKE EAKSPAEVKS PEKAKSPAKE EAKSPAEAKS
610 620 630 640 650
PEKAKSPVKE EAKSPAEAKS PVKEEAKSPA EVKSPEKAKS PTKEEAKSPE
660 670 680 690 700
KAKSPEKAKS PEKEEAKSPE KAKSPVKAEA KSPEKAKSPV KAEAKSPEKA
710 720 730 740 750
KSPVKEEAKS PEKAKSPVKE EAKSPEKAKS PVKEEAKTPE KAKSPVKEEA
760 770 780 790 800
KSPEKAKSPE KAKTLDVKSP EAKTPAKEEA RSPADKFPEK AKSPVKEEVK
810 820 830 840 850
SPEKAKSPLK EDAKAPEKEI PKKEEVKSPV KEEEKPQEVK VKEPPKKAEE
860 870 880 890 900
EKAPATPKTE EKKDSKKEEA PKKEAPKPKV EEKKEPAVEK PKESKVEAKK
910 920 930 940 950
EEAEDKKKVP TPEKEAPAKV EVKEDAKPKE KTEVAKKEPD DAKAKEPSKP
960 970 980 990 1000
AEKKEAAPEK KDTKEEKAKK PEEKPKTEAK AKEDDKTLSK EPSKPKAEKA
1010 1020
EKSSSTDQKD SKPPEKATED KAAKGK
Length:1,026
Mass (Da):112,479
Last modified:March 24, 2009 - v4
Checksum:i0879B6A08D208C17
GO
Isoform 2 (identifier: P12036-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     750-812: Missing.

Note: No experimental confirmation available.

Show »
Length:963
Mass (Da):105,639
Checksum:i6E272AB8F3FBF5EA
GO

Sequence cautioni

The sequence BAA74868.2 differs from that shown. Reason: Erroneous initiation.
The sequence BAG63896.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti647 – 6526Missing in CAA33366. (PubMed:3138108)Curated
Sequence conflicti647 – 6526Missing in AC000035. (PubMed:10591208)Curated

Polymorphismi

The number of repeats is shown to vary between 29 and 30.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti575 – 5751P → S.
Corresponds to variant rs6006164 [ dbSNP | Ensembl ].
VAR_054787
Natural varianti615 – 6151P → L.
Corresponds to variant rs5763269 [ dbSNP | Ensembl ].
VAR_056025
Natural varianti796 – 7961Missing in ALS. 1 Publication
VAR_023063
Natural varianti811 – 8111E → A.1 Publication
Corresponds to variant rs165602 [ dbSNP | Ensembl ].
VAR_026163

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei750 – 81263Missing in isoform 2. 1 PublicationVSP_036706Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X15306
, X15307, X15308, X15309 Genomic DNA. Translation: CAA33366.1.
AF203032 mRNA. Translation: AAF13722.1.
AB020652 mRNA. Translation: BAA74868.2. Different initiation.
AK302660 mRNA. Translation: BAG63896.1. Different initiation.
AC000035 Genomic DNA. No translation available.
BC008648 mRNA. Translation: AAH08648.1.
BC073969 mRNA. Translation: AAH73969.1.
PIRiS00979. QFHUH.
RefSeqiNP_066554.2. NM_021076.3.
UniGeneiHs.198760.

Genome annotation databases

EnsembliENST00000310624; ENSP00000311997; ENSG00000100285.
GeneIDi4744.
KEGGihsa:4744.
UCSCiuc003afo.3. human. [P12036-2]

Polymorphism databases

DMDMi226726294.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database
Alsod

ALS genetic mutations db

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X15306
, X15307 , X15308 , X15309 Genomic DNA. Translation: CAA33366.1 .
AF203032 mRNA. Translation: AAF13722.1 .
AB020652 mRNA. Translation: BAA74868.2 . Different initiation.
AK302660 mRNA. Translation: BAG63896.1 . Different initiation.
AC000035 Genomic DNA. No translation available.
BC008648 mRNA. Translation: AAH08648.1 .
BC073969 mRNA. Translation: AAH73969.1 .
PIRi S00979. QFHUH.
RefSeqi NP_066554.2. NM_021076.3.
UniGenei Hs.198760.

3D structure databases

ProteinModelPortali P12036.
SMRi P12036. Positions 93-245, 266-408.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110819. 13 interactions.
IntActi P12036. 14 interactions.
STRINGi 9606.ENSP00000311997.

PTM databases

PhosphoSitei P12036.

Polymorphism databases

DMDMi 226726294.

2D gel databases

UCD-2DPAGE P12036.

Proteomic databases

PaxDbi P12036.
PRIDEi P12036.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000310624 ; ENSP00000311997 ; ENSG00000100285 .
GeneIDi 4744.
KEGGi hsa:4744.
UCSCi uc003afo.3. human. [P12036-2 ]

Organism-specific databases

CTDi 4744.
GeneCardsi GC22P029876.
H-InvDB HIX0016351.
HGNCi HGNC:7737. NEFH.
HPAi CAB007786.
MIMi 105400. phenotype.
162230. gene.
neXtProti NX_P12036.
Orphaneti 803. Amyotrophic lateral sclerosis.
PharmGKBi PA31540.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
HOGENOMi HOG000230977.
HOVERGENi HBG013015.
InParanoidi P12036.
KOi K04574.
OrthoDBi EOG7GQXVW.
PhylomeDBi P12036.
TreeFami TF330122.

Miscellaneous databases

GenomeRNAii 4744.
NextBioi 18288.
PROi P12036.
SOURCEi Search...

Gene expression databases

Bgeei P12036.
CleanExi HS_NEFH.
Genevestigatori P12036.

Family and domain databases

InterProi IPR010790. DUF1388.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
[Graphical view ]
Pfami PF07142. DUF1388. 3 hits.
PF00038. Filament. 1 hit.
[Graphical view ]
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it."
    Lees J.F., Shneidman P.S., Skuntz S.F., Carden M.J., Lazzarini R.A.
    EMBO J. 7:1947-1955(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-811.
  2. "Molecular Cloning of human hSTE cDNA."
    Zhu Y., Han Y.
    Beijing Yi Ke Da Xue Xue Bao 31:531-531(1999)
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  5. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 606-1026 (ISOFORM 2).
    Tissue: Eye.
  7. "PKN associates and phosphorylates the head-rod domain of neurofilament protein."
    Mukai H., Toshimori M., Shibata H., Kitagawa M., Shimakawa M., Miyahara M., Sunakawa H., Ono Y.
    J. Biol. Chem. 271:9816-9822(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION BY PKN1.
  8. "Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis."
    Figlewicz D.A., Krizus A., Martinoli M.G., Meininger V., Dib M., Rouleau G.A., Julien J.-P.
    Hum. Mol. Genet. 3:1757-1761(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALS LYS-796 DEL.

Entry informationi

Entry nameiNFH_HUMAN
AccessioniPrimary (citable) accession number: P12036
Secondary accession number(s): B4DYY4
, Q96HF8, Q9UJS7, Q9UQ14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: March 24, 2009
Last modified: October 29, 2014
This is version 149 of the entry and version 4 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, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: 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

External Data

Dasty 3