T3DB: Neurofilament heavy polypeptide

Name	Neurofilament heavy polypeptide
Synonyms	200 kDa neurofilament protein KIAA0845 Neurofilament triplet H protein NF-H NFH
Gene Name	NEFH
Organism	Human
Amino acid sequence	>lcl\|BSEQ0009025\|Neurofilament heavy polypeptide MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSA SPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEA HNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAH VRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGE LLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRL SEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASY QEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPF SLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKE EEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKS PAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKS PEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKAKS PEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKE EAKSPEKAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEA RSPADKFPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVK VKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKK EEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEK KDTKEEKAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATED KAAKGK
Number of residues	1026
Molecular Weight	112477.915
Theoretical pI	Not Available
GO Classification	Functions kinesin binding protein kinase binding dynein binding protein binding, bridging structural molecule activity toxic substance binding structural constituent of cytoskeleton microtubule binding Processes axonogenesis response to cocaine axon development neurofilament bundle assembly spinal cord development ovarian follicle atresia hippocampus development peripheral nervous system neuron axonogenesis regulation of organelle transport along microtubule axon regeneration response to acrylamide response to sodium arsenite cellular response to estradiol stimulus cerebral cortex development microtubule cytoskeleton organization cellular response to oxidative stress cell projection assembly Components neurofilament neuronal postsynaptic density axon cytoplasm mitochondrion nucleus myelin sheath neurofibrillary tangle perikaryon
General Function	Toxic substance binding
Specific Function	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.
Pfam Domain Function	Filament (PF00038 ) DUF1388 (PF07142 )
Transmembrane Regions	Not Available
GenBank Protein ID	Not Available
UniProtKB ID	P12036
UniProtKB Entry Name	NFH_HUMAN
Cellular Location	Not Available
Gene sequence	>lcl\|BSEQ0013570\|Neurofilament heavy polypeptide (NEFH) ATGATGAGCTTCGGCGGCGCGGACGCGCTGCTGGGCGCCCCGTTCGCGCCGCTGCATGGC GGCGGCAGCCTCCACTACGCGCTAGCCCGAAAGGGTGGCGCAGGCGGGACGCGCTCCGCC GCTGGCTCCTCCAGCGGCTTCCACTCGTGGACACGGACGTCCGTGAGCTCCGTGTCCGCC TCGCCCAGCCGCTTCCGTGGCGCAGGCGCCGCCTCAAGCACCGACTCGCTGGACACGCTG AGCAACGGGCCGGAGGGCTGCATGGTGGCGGTGGCCACCTCACGCAGTGAGAAGGAGCAG CTGCAGGCGCTGAACGACCGCTTCGCCGGGTACATCGACAAGGTGCGGCAGCTGGAGGCG CACAACCGCAGCCTGGAGGGCGAGGCTGCGGCGCTGCGGCAGCAGCAGGCGGGCCGCTCC GCTATGGGCGAGCTGTACGAGCGCGAGGTCCGCGAGATGCGCGGCGCGGTGCTGCGCCTG GGCGCGGCGCGCGGTCAGCTACGCCTGGAGCAGGAGCACCTGCTCGAGGACATCGCGCAC GTGCGCCAGCGCCTAGACGACGAGGCCCGGCAGCGAGAGGAGGCCGAGGCGGCGGCCCGC GCGCTGGCGCGCTTCGCGCAGGAGGCCGAGGCGGCGCGCGTGGACCTGCAGAAGAAGGCG CAGGCGCTGCAGGAGGAGTGCGGCTACCTGCGGCGCCACCACCAGGAAGAGGTGGGCGAG CTGCTCGGCCAGATCCAGGGCTCCGGCGCCGCGCAGGCGCAGATGCAGGCCGAGACGCGC GACGCCCTGAAGTGCGACGTGACGTCGGCGCTGCGCGAGATTCGCGCGCAGCTTGAAGGC CACGCGGTGCAGAGCACGCTGCAGTCCGAGGAGTGGTTCCGAGTGAGGCTGGACCGACTG TCGGAGGCAGCCAAGGTGAACACAGACGCTATGCGCTCAGCGCAGGAGGAGATAACTGAG TACCGGCGTCAGCTGCAGGCCAGGACCACAGAGCTGGAGGCACTGAAAAGCACCAAGGAC TCACTGGAGAGGCAGCGCTCTGAGCTGGAGGACCGTCATCAGGCCGACATTGCCTCCTAC CAGGAAGCCATTCAGCAGCTGGACGCTGAGCTGAGGAACACCAAGTGGGAGATGGCCGCC CAGCTGCGAGAATACCAGGACCTGCTCAATGTCAAGATGGCTCTGGATATAGAGATAGCC GCTTACAGAAAACTCCTGGAAGGTGAAGAGTGTCGGATTGGCTTTGGCCCAATTCCTTTC TCGCTTCCAGAAGGACTCCCCAAAATTCCCTCTGTGTCCACTCACATAAAGGTGAAAAGC GAAGAGAAGATCAAAGTGGTGGAGAAGTCTGAGAAAGAAACTGTGATTGTGGAGGAACAG ACAGAGGAGACCCAAGTGACTGAAGAAGTGACTGAAGAAGAGGAGAAAGAGGCCAAAGAG GAGGAGGGCAAGGAGGAAGAAGGGGGTGAAGAAGAGGAGGCAGAAGGGGGAGAAGAAGAA ACAAAGTCTCCCCCAGCAGAAGAGGCTGCATCCCCAGAGAAGGAAGCCAAGTCACCAGTA AAGGAAGAGGCAAAGTCACCGGCTGAGGCCAAGTCCCCAGAGAAGGAGGAAGCAAAATCC CCAGCCGAAGTCAAGTCCCCTGAGAAGGCCAAGTCTCCAGCAAAGGAAGAGGCAAAGTCA CCGCCTGAGGCCAAGTCCCCAGAGAAGGAGGAAGCAAAATCTCCAGCTGAGGTCAAGTCC CCCGAGAAGGCCAAGTCCCCAGCAAAGGAAGAGGCAAAGTCACCGGCTGAGGCCAAGTCT CCAGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCACCGGCTGAGGCCAAGTCC CCAGTGAAGGAAGAAGCAAAATCTCCAGCTGAGGTCAAGTCCCCGGAAAAGGCCAAGTCT CCAACGAAGGAGGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCC AAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCCTGAGAAGGCC AAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAA GAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAG AAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGACCCCCGAGAAGGCCAAGTCCCCAGTG AAGGAAGAAGCTAAGTCCCCAGAGAAGGCCAAGTCCCCAGAGAAGGCCAAGACTCTTGAT GTGAAGTCTCCAGAAGCCAAGACTCCAGCGAAGGAGGAAGCAAGGTCCCCTGCAGACAAA TTCCCTGAAAAGGCCAAAAGCCCTGTCAAGGAGGAGGTCAAGTCCCCAGAGAAGGCGAAA TCTCCCCTGAAGGAGGATGCCAAGGCCCCTGAGAAGGAGATCCCAAAAAAGGAAGAGGTG AAGTCCCCAGTGAAGGAGGAGGAGAAGCCCCAGGAGGTGAAAGTCAAAGAGCCCCCAAAG AAGGCAGAGGAAGAGAAAGCCCCTGCCACACCAAAAACAGAGGAGAAGAAGGACAGCAAG AAAGAGGAGGCACCCAAGAAGGAGGCTCCAAAGCCCAAGGTGGAGGAGAAGAAGGAACCT GCTGTCGAAAAGCCCAAAGAATCCAAAGTTGAAGCCAAGAAGGAAGAGGCTGAAGATAAG AAAAAAGTCCCCACCCCAGAGAAGGAGGCTCCTGCCAAGGTGGAGGTGAAGGAAGACGCT AAACCCAAAGAAAAGACAGAGGTAGCCAAGAAGGAACCAGATGATGCCAAGGCCAAGGAA CCCAGCAAACCAGCAGAGAAGAAGGAGGCAGCACCGGAGAAAAAAGACACCAAGGAGGAG AAGGCCAAGAAGCCTGAGGAGAAACCCAAGACAGAGGCCAAAGCCAAGGAAGATGACAAG ACCCTCTCAAAAGAGCCTAGCAAGCCTAAGGCAGAAAAGGCTGAAAAATCCTCCAGCACA GACCAAAAAGACAGCAAGCCTCCAGAGAAGGCCACAGAAGACAAGGCCGCCAAGGGGAAG TAA
GenBank Gene ID	Not Available
GeneCard ID	Not Available
GenAtlas ID	Not Available
HGNC ID	HGNC:7737
Chromosome Location	22
Locus	Not Available
References	Lees JF, Shneidman PS, Skuntz SF, Carden MJ, Lazzarini RA: The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it. EMBO J. 1988 Jul;7(7):1947-55. 3138108 Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: 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. DNA Res. 1998 Dec 31;5(6):355-64. 10048485 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 TO, 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: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. 14702039 Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al.: The DNA sequence of human chromosome 22. Nature. 1999 Dec 2;402(6761):489-95. 10591208 Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334 Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, Sunakawa H, Ono Y: PKN associates and phosphorylates the head-rod domain of neurofilament protein. J Biol Chem. 1996 Apr 19;271(16):9816-22. 8621664 Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. 24275569 Figlewicz DA, Krizus A, Martinoli MG, Meininger V, Dib M, Rouleau GA, Julien JP: Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet. 1994 Oct;3(10):1757-61. 7849698