KEGG   Homo sapiens (human): 4744
Entry
4744              CDS       T01001                                 
Symbol
NEFH, CMT2CC, NFH
Name
(RefSeq) neurofilament heavy chain
  KO
K04574  neurofilament heavy polypeptide
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06541  Cytoskeleton in neurons
  Element
N01853  Neurofilament structure
N01855  Neurofilament regulation, ubiqutination by Gigaxonin
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    4744 (NEFH)
   05022 Pathways of neurodegeneration - multiple diseases
    4744 (NEFH)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4744 (NEFH)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type IV
     4744 (NEFH)
SSDB
Motif
Pfam: Filament DUF1388 RasGAP_C
Other DBs
NCBI-GeneID: 4744
NCBI-ProteinID: NP_066554
OMIM: 162230
HGNC: 7737
Ensembl: ENSG00000100285
UniProt: P12036
Position
22:29480218..29491390
AA seq 1020 aa
MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSA
SPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEA
HNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAH
VRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGE
LLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRL
SEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASY
QEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPF
SLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKE
EEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKS
PAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKS
PEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKEEA
KSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPE
KAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEARSPADK
FPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVKVKEPPK
KAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKKEEAEDK
KKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEE
KAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK
NT seq 3063 nt   +upstreamnt  +downstreamnt
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

  All links  
Disease (3)   
   OMIM (3)   
Gene (115)   
   RefGene (107)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (24)   
   RefSeq(nuc) (2)   
   GenBank (11)   
   EMBL (11)   
Protein domain (3)   
   Pfam (3)   
All databases (149)   

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