Homo sapiens (human): 4744
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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
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Filament
DUF1388
RasGAP_C
Motif
Other DBs
NCBI-GeneID:
4744
NCBI-ProteinID:
NP_066554
OMIM:
162230
HGNC:
7737
Ensembl:
ENSG00000100285
Pharos:
P12036
(Tbio)
UniProt:
P12036
LinkDB
All DBs
Position
22:29480218..29491390
Genome browser
AA seq
1020 aa
AA seq
DB search
MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSA
SPSRFRGAGAASSTDSLDTLSNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEA
HNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRLGAARGQLRLEQEHLLEDIAH
VRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGE
LLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRL
SEAAKVNTDAMRSAQEEITEYRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASY
QEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIAAYRKLLEGEECRIGFGPIPF
SLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKE
EEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKS
PAEVKSPEKAKSPAKEEAKSPPEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKSPAEAKS
PEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKSPTKEEAKSPEKAKSPEKEEA
KSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPE
KAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEARSPADK
FPEKAKSPVKEEVKSPEKAKSPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVKVKEPPK
KAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEPAVEKPKESKVEAKKEEAEDK
KKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEE
KAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK
NT seq
3063 nt
NT seq
+upstream
nt +downstream
nt
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
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