P12036 (NFH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neurofilament heavy polypeptide
Short name=NF-H

Alternative name(s):
200 kDa neurofilament protein
Neurofilament triplet H protein

Gene names

Name:	NEFH
Synonyms:	KIAA0845, NFH

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1026 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Post-translational modification	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. Ref.7 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. Ref.7
Polymorphism	The number of repeats is shown to vary between 29 and 30.
Involvement in disease	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. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.8
Sequence similarities	Belongs to the intermediate filament family.
Sequence caution	The sequence BAA74868.2 differs from that shown. Reason: Erroneous initiation. The sequence BAG63896.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Intermediate filament
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Amyotrophic lateral sclerosis Disease mutation Neurodegeneration
Domain	Coiled coil Repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW intermediate filament bundle assembly Inferred from electronic annotation. Source: Compara microtubule cytoskeleton organization Inferred from electronic annotation. Source: Compara nervous system development Non-traceable author statement. Source: UniProtKB neurofilament cytoskeleton organization Inferred from electronic annotation. Source: Compara
Cellular_component	mitochondrion Inferred from electronic annotation. Source: Compara neurofilament Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P12036-1)

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.

Isoform 2 (identifier: P12036-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1026	1026	Neurofilament heavy polypeptide		PRO_0000063800
Regions
	Repeat	525 – 530	6	1
	Repeat	531 – 536	6	2
	Repeat	539 – 544	6	3
	Repeat	545 – 550	6	4
	Repeat	559 – 564	6	5
	Repeat	573 – 578	6	6
	Repeat	579 – 584	6	7
	Repeat	593 – 598	6	8
	Repeat	599 – 604	6	9
	Repeat	613 – 618	6	10
	Repeat	627 – 632	6	11
	Repeat	633 – 638	6	12
	Repeat	647 – 652	6	13
	Repeat	653 – 658	6	14
	Repeat	667 – 672	6	15
	Repeat	673 – 678	6	16
	Repeat	681 – 686	6	17
	Repeat	687 – 692	6	18
	Repeat	695 – 700	6	19
	Repeat	701 – 706	6	20
	Repeat	709 – 714	6	21
	Repeat	715 – 720	6	22
	Repeat	723 – 728	6	23
	Repeat	729 – 734	6	24
	Repeat	743 – 748	6	25
	Repeat	751 – 756	6	26
	Repeat	768 – 773	6	27
	Repeat	792 – 797	6	28
	Repeat	800 – 805	6	29
	Repeat	827 – 832	6	30
	Region	1 – 100	100	Head
	Region	101 – 413	313	Rod
	Region	101 – 132	32	Coil 1A
	Region	133 – 145	13	Linker 1
	Region	146 – 244	99	Coil 1B
	Region	245 – 266	22	Linker 12
	Region	267 – 288	22	Coil 2A
	Region	289 – 292	4	Linker 2
	Region	293 – 413	121	Coil 2B
	Region	414 – 1026	613	Tail
	Region	525 – 832	308	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]-[AEVK]
Amino acid modifications
	Modified residue	61	1	Phosphoserine By similarity
	Modified residue	503	1	Phosphoserine By similarity
	Modified residue	526	1	Phosphoserine By similarity
	Modified residue	532	1	Phosphoserine By similarity
	Modified residue	540	1	Phosphoserine By similarity
	Modified residue	546	1	Phosphoserine By similarity
	Modified residue	552	1	Phosphoserine By similarity
	Modified residue	560	1	Phosphoserine By similarity
	Modified residue	566	1	Phosphoserine By similarity
	Modified residue	574	1	Phosphoserine By similarity
	Modified residue	600	1	Phosphoserine By similarity
	Modified residue	606	1	Phosphoserine By similarity
	Modified residue	614	1	Phosphoserine By similarity
	Modified residue	620	1	Phosphoserine By similarity
	Modified residue	628	1	Phosphoserine By similarity
	Modified residue	634	1	Phosphoserine By similarity
	Modified residue	640	1	Phosphoserine By similarity
	Modified residue	648	1	Phosphoserine By similarity
	Modified residue	654	1	Phosphoserine By similarity
	Modified residue	660	1	Phosphoserine By similarity
	Modified residue	668	1	Phosphoserine By similarity
	Modified residue	674	1	Phosphoserine By similarity
	Modified residue	682	1	Phosphoserine By similarity
	Modified residue	688	1	Phosphoserine By similarity
	Modified residue	696	1	Phosphoserine By similarity
	Modified residue	702	1	Phosphoserine By similarity
	Modified residue	710	1	Phosphoserine By similarity
	Modified residue	724	1	Phosphoserine By similarity
	Modified residue	769	1	Phosphoserine By similarity
	Modified residue	774	1	Phosphothreonine By similarity
	Modified residue	801	1	Phosphoserine By similarity
	Modified residue	828	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	750 – 812	63	Missing in isoform 2.		VSP_036706
	Natural variant	575	1	P → S. Corresponds to variant rs6006164 [ dbSNP | Ensembl ].		VAR_054787
	Natural variant	615	1	P → L. Corresponds to variant rs5763269 [ dbSNP | Ensembl ].		VAR_056025
	Natural variant	796	1	Missing in ALS. Ref.8		VAR_023063
	Natural variant	811	1	E → A. Ref.1 Corresponds to variant rs165602 [ dbSNP | Ensembl ].		VAR_026163
Experimental info
	Sequence conflict	647 – 652	6	Missing in CAA33366. Ref.1
	Sequence conflict	647 – 652	6	Missing in AC000035. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 24, 2009. Version 4. Checksum: 0879B6A08D208C17	FASTA	1,026	112,479
	10 20 30 40 50 60 MMSFGGADAL LGAPFAPLHG GGSLHYALAR KGGAGGTRSA AGSSSGFHSW TRTSVSSVSA 70 80 90 100 110 120 SPSRFRGAGA ASSTDSLDTL SNGPEGCMVA VATSRSEKEQ LQALNDRFAG YIDKVRQLEA 130 140 150 160 170 180 HNRSLEGEAA ALRQQQAGRS AMGELYEREV REMRGAVLRL GAARGQLRLE QEHLLEDIAH 190 200 210 220 230 240 VRQRLDDEAR QREEAEAAAR ALARFAQEAE AARVDLQKKA QALQEECGYL RRHHQEEVGE 250 260 270 280 290 300 LLGQIQGSGA AQAQMQAETR DALKCDVTSA LREIRAQLEG HAVQSTLQSE EWFRVRLDRL 310 320 330 340 350 360 SEAAKVNTDA MRSAQEEITE YRRQLQARTT ELEALKSTKD SLERQRSELE DRHQADIASY 370 380 390 400 410 420 QEAIQQLDAE LRNTKWEMAA QLREYQDLLN VKMALDIEIA AYRKLLEGEE CRIGFGPIPF 430 440 450 460 470 480 SLPEGLPKIP SVSTHIKVKS EEKIKVVEKS EKETVIVEEQ TEETQVTEEV TEEEEKEAKE 490 500 510 520 530 540 EEGKEEEGGE EEEAEGGEEE TKSPPAEEAA SPEKEAKSPV KEEAKSPAEA KSPEKEEAKS 550 560 570 580 590 600 PAEVKSPEKA KSPAKEEAKS PPEAKSPEKE EAKSPAEVKS PEKAKSPAKE EAKSPAEAKS 610 620 630 640 650 660 PEKAKSPVKE EAKSPAEAKS PVKEEAKSPA EVKSPEKAKS PTKEEAKSPE KAKSPEKAKS 670 680 690 700 710 720 PEKEEAKSPE KAKSPVKAEA KSPEKAKSPV KAEAKSPEKA KSPVKEEAKS PEKAKSPVKE 730 740 750 760 770 780 EAKSPEKAKS PVKEEAKTPE KAKSPVKEEA KSPEKAKSPE KAKTLDVKSP EAKTPAKEEA 790 800 810 820 830 840 RSPADKFPEK AKSPVKEEVK SPEKAKSPLK EDAKAPEKEI PKKEEVKSPV KEEEKPQEVK 850 860 870 880 890 900 VKEPPKKAEE EKAPATPKTE EKKDSKKEEA PKKEAPKPKV EEKKEPAVEK PKESKVEAKK 910 920 930 940 950 960 EEAEDKKKVP TPEKEAPAKV EVKEDAKPKE KTEVAKKEPD DAKAKEPSKP AEKKEAAPEK 970 980 990 1000 1010 1020 KDTKEEKAKK PEEKPKTEAK AKEDDKTLSK EPSKPKAEKA EKSSSTDQKD SKPPEKATED KAAKGK
	Isoform 2 [UniParc]. Checksum: 6E272AB8F3FBF5EA	FASTA	963	105,639
	10 20 30 40 50 60 MMSFGGADAL LGAPFAPLHG GGSLHYALAR KGGAGGTRSA AGSSSGFHSW TRTSVSSVSA 70 80 90 100 110 120 SPSRFRGAGA ASSTDSLDTL SNGPEGCMVA VATSRSEKEQ LQALNDRFAG YIDKVRQLEA 130 140 150 160 170 180 HNRSLEGEAA ALRQQQAGRS AMGELYEREV REMRGAVLRL GAARGQLRLE QEHLLEDIAH 190 200 210 220 230 240 VRQRLDDEAR QREEAEAAAR ALARFAQEAE AARVDLQKKA QALQEECGYL RRHHQEEVGE 250 260 270 280 290 300 LLGQIQGSGA AQAQMQAETR DALKCDVTSA LREIRAQLEG HAVQSTLQSE EWFRVRLDRL 310 320 330 340 350 360 SEAAKVNTDA MRSAQEEITE YRRQLQARTT ELEALKSTKD SLERQRSELE DRHQADIASY 370 380 390 400 410 420 QEAIQQLDAE LRNTKWEMAA QLREYQDLLN VKMALDIEIA AYRKLLEGEE CRIGFGPIPF 430 440 450 460 470 480 SLPEGLPKIP SVSTHIKVKS EEKIKVVEKS EKETVIVEEQ TEETQVTEEV TEEEEKEAKE 490 500 510 520 530 540 EEGKEEEGGE EEEAEGGEEE TKSPPAEEAA SPEKEAKSPV KEEAKSPAEA KSPEKEEAKS 550 560 570 580 590 600 PAEVKSPEKA KSPAKEEAKS PPEAKSPEKE EAKSPAEVKS PEKAKSPAKE EAKSPAEAKS 610 620 630 640 650 660 PEKAKSPVKE EAKSPAEAKS PVKEEAKSPA EVKSPEKAKS PTKEEAKSPE KAKSPEKAKS 670 680 690 700 710 720 PEKEEAKSPE KAKSPVKAEA KSPEKAKSPV KAEAKSPEKA KSPVKEEAKS PEKAKSPVKE 730 740 750 760 770 780 EAKSPEKAKS PVKEEAKTPE KAKSPVKEEA KAPEKEIPKK EEVKSPVKEE EKPQEVKVKE 790 800 810 820 830 840 PPKKAEEEKA PATPKTEEKK DSKKEEAPKK EAPKPKVEEK KEPAVEKPKE SKVEAKKEEA 850 860 870 880 890 900 EDKKKVPTPE KEAPAKVEVK EDAKPKEKTE VAKKEPDDAK AKEPSKPAEK KEAAPEKKDT 910 920 930 940 950 960 KEEKAKKPEE KPKTEAKAKE DDKTLSKEPS KPKAEKAEKS SSTDQKDSKP PEKATEDKAA KGK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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.
+	Additional computationally mapped references.

Web resources

Human Intermediate Filament Mutation Database

Alsod

ALS genetic mutations db

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00386758. IPI00910602.
PIR	QFHUH. S00979.
RefSeq	NP_066554.2. NM_021076.3.
UniGene	Hs.198760.
3D structure databases
ProteinModelPortal	P12036.
ModBase	Search...
Protein-protein interaction databases
IntAct	P12036. 13 interactions.
STRING	9606.ENSP00000311997.
PTM databases
PhosphoSite	P12036.
Polymorphism databases
DMDM	226726294.
2D gel databases
UCD-2DPAGE	P12036.
Proteomic databases
PaxDb	P12036.
PRIDE	P12036.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310624; ENSP00000311997; ENSG00000100285.
GeneID	4744.
KEGG	hsa:4744.
Organism-specific databases
CTD	4744.
GeneCards	GC22P029876.
H-InvDB	HIX0016351.
HGNC	HGNC:7737. NEFH.
HPA	CAB007786.
MIM	105400. phenotype. 162230. gene.
neXtProt	NX_P12036.
Orphanet	803. Amyotrophic lateral sclerosis.
PharmGKB	PA31540.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOGENOM	HOG000230977.
HOVERGEN	HBG013015.
InParanoid	P12036.
KO	K04574.
OrthoDB	EOG4NS3BW.
Gene expression databases
Bgee	P12036.
CleanEx	HS_NEFH.
Genevestigator	P12036.
GermOnline	ENSG00000100285. Homo sapiens.
Family and domain databases
InterPro	IPR010790. DUF1388. IPR016044. F. IPR018039. Intermediate_filament_CS. [Graphical view]
Pfam	PF07142. DUF1388. 3 hits. PF00038. Filament. 1 hit. [Graphical view]
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4744.
NextBio	18288.
SOURCE	Search...

Entry information

Entry name

NFH_HUMAN

Accession

Primary (citable) accession number: P12036
Secondary accession number(s): B4DYY4 , Q96HF8, Q9UJS7, Q9UQ14

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1989
Last sequence update:	March 24, 2009
Last modified:	May 1, 2013
This is version 136 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.