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P12036

- NFH_HUMAN

UniProt

P12036 - NFH_HUMAN

Protein

Neurofilament heavy polypeptide

Gene

NEFH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 4 (24 Mar 2009)
      Previous versions | rss
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    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

    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

    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. 5 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: P12036-1) [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

    MMSFGGADAL LGAPFAPLHG GGSLHYALAR KGGAGGTRSA AGSSSGFHSW     50
    TRTSVSSVSA SPSRFRGAGA ASSTDSLDTL SNGPEGCMVA VATSRSEKEQ 100
    LQALNDRFAG YIDKVRQLEA HNRSLEGEAA ALRQQQAGRS AMGELYEREV 150
    REMRGAVLRL GAARGQLRLE QEHLLEDIAH VRQRLDDEAR QREEAEAAAR 200
    ALARFAQEAE AARVDLQKKA QALQEECGYL RRHHQEEVGE LLGQIQGSGA 250
    AQAQMQAETR DALKCDVTSA LREIRAQLEG HAVQSTLQSE EWFRVRLDRL 300
    SEAAKVNTDA MRSAQEEITE YRRQLQARTT ELEALKSTKD SLERQRSELE 350
    DRHQADIASY QEAIQQLDAE LRNTKWEMAA QLREYQDLLN VKMALDIEIA 400
    AYRKLLEGEE CRIGFGPIPF SLPEGLPKIP SVSTHIKVKS EEKIKVVEKS 450
    EKETVIVEEQ TEETQVTEEV TEEEEKEAKE EEGKEEEGGE EEEAEGGEEE 500
    TKSPPAEEAA SPEKEAKSPV KEEAKSPAEA KSPEKEEAKS PAEVKSPEKA 550
    KSPAKEEAKS PPEAKSPEKE EAKSPAEVKS PEKAKSPAKE EAKSPAEAKS 600
    PEKAKSPVKE EAKSPAEAKS PVKEEAKSPA EVKSPEKAKS PTKEEAKSPE 650
    KAKSPEKAKS PEKEEAKSPE KAKSPVKAEA KSPEKAKSPV KAEAKSPEKA 700
    KSPVKEEAKS PEKAKSPVKE EAKSPEKAKS PVKEEAKTPE KAKSPVKEEA 750
    KSPEKAKSPE KAKTLDVKSP EAKTPAKEEA RSPADKFPEK AKSPVKEEVK 800
    SPEKAKSPLK EDAKAPEKEI PKKEEVKSPV KEEEKPQEVK VKEPPKKAEE 850
    EKAPATPKTE EKKDSKKEEA PKKEAPKPKV EEKKEPAVEK PKESKVEAKK 900
    EEAEDKKKVP TPEKEAPAKV EVKEDAKPKE KTEVAKKEPD DAKAKEPSKP 950
    AEKKEAAPEK KDTKEEKAKK PEEKPKTEAK AKEDDKTLSK EPSKPKAEKA 1000
    EKSSSTDQKD SKPPEKATED KAAKGK 1026
    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. 5 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

    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 1, 2014
    This is version 148 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