Homo sapiens (human): 4747
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Entry
4747 CDS
T01001
Symbol
NEFL, CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110
Name
(RefSeq) neurofilament light chain
KO
K04572
neurofilament light 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
N01854
Neurofilament regulation, ubiqutination by TRIM2
N01855
Neurofilament regulation, ubiqutination by Gigaxonin
Disease
H00264
Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09160 Human Diseases
09164 Neurodegenerative disease
05014 Amyotrophic lateral sclerosis
4747 (NEFL)
05022 Pathways of neurodegeneration - multiple diseases
4747 (NEFL)
09180 Brite Hierarchies
09181 Protein families: metabolism
01009 Protein phosphatases and associated proteins [BR:
hsa01009
]
4747 (NEFL)
09183 Protein families: signaling and cellular processes
04812 Cytoskeleton proteins [BR:
hsa04812
]
4747 (NEFL)
Protein phosphatases and associated proteins [BR:
hsa01009
]
Protein serine/threonine phosphatases
Phosphoprotein phosphatases (PPPs)
Protein phosphatase-1
PP1-interacting proteins (PIPs)
4747 (NEFL)
Cytoskeleton proteins [BR:
hsa04812
]
Eukaryotic cytoskeleton proteins
Intermediate filaments
Intermediate filaments
Type IV
4747 (NEFL)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Filament
Filament_head
DUF1664
TPR_MLP1_2
T2SSM_b
Motif
Other DBs
NCBI-GeneID:
4747
NCBI-ProteinID:
NP_006149
OMIM:
162280
HGNC:
7739
Ensembl:
ENSG00000277586
UniProt:
P07196
LinkDB
All DBs
Position
8:complement(24950955..24956612)
Genome browser
AA seq
543 aa
AA seq
DB search
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSS
SGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEA
ELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQALQGEREGLEETLRNLQARYEE
EVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRA
AKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRT
TKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFG
RSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAK
KKD
NT seq
1632 nt
NT seq
+upstream
nt +downstream
nt
atgagttccttcagctacgagccgtactactcgacctcctacaagcggcgctacgtggag
acgccccgggtgcacatctccagcgtgcgcagcggctacagcaccgcacgctcagcttac
tccagctactcggcgccggtgtcttcctcgctgtccgtgcgccgcagctactcctccagc
tctggatcgttgatgcccagtctggagaacctcgacctgagccaggtagccgccatcagc
aacgacctcaagtccatccgcacgcaggagaaggcgcagctccaggacctcaatgaccgc
ttcgccagcttcatcgagcgcgtgcacgagctggagcagcagaacaaggtcctggaagcc
gagctgctggtgctgcgccagaagcactccgagccatcccgcttccgggcgctgtacgag
caggagatccgcgacctgcgcctggcggcggaagatgccaccaacgagaagcaggcgctc
cagggcgagcgcgaagggctggaggagaccctgcgcaacctgcaggcgcgctatgaagag
gaggtgctgagccgcgaggacgccgagggccggctgatggaagcgcgcaaaggcgccgac
gaggcggcgctcgctcgcgccgagctcgagaagcgcatcgacagcttgatggacgaaatc
tcttttctgaagaaagtgcacgaagaggagatcgccgaactgcaggcgcagatccagtac
gcgcagatctccgtggagatggacgtgaccaagcccgacctttccgccgcgctcaaggac
atccgcgcgcagtacgagaagctggccgccaagaacatgcagaacgctgaggaatggttc
aagagccgcttcaccgtgctgaccgagagcgccgccaagaacaccgacgccgtgcgcgcc
gccaaggacgaggtgtccgagagccgtcgtctgctcaaggccaagaccctggaaatcgaa
gcatgccggggcatgaatgaagcgctggagaagcagctgcaggagctggaggacaagcag
aacgccgacatcagcgctatgcaggacacgatcaacaaattagaaaatgaattgaggacc
acaaagagtgaaatggcacgatacctaaaagaataccaagacctcctcaacgtgaagatg
gctttggatattgagattgcagcttacaggaaactcttggaaggcgaggagacccgactc
agtttcaccagcgtgggaagcataaccagtggctactcccagagctcccaggtctttggc
cgatctgcctacggcggtttacagaccagctcctatctgatgtccacccgctccttcccg
tcctactacaccagccatgtccaagaggagcagatcgaagtggaggaaaccattgaggct
gccaaggctgaggaagccaaggatgagcccccctctgaaggagaagccgaggaggaggag
aaggacaaggaagaggccgaggaagaggaggcagctgaagaggaagaagctgccaaggaa
gagtctgaagaagcaaaagaagaagaagaaggaggtgaaggtgaagaaggagaggaaacc
aaagaagctgaagaggaggagaagaaagttgaaggtgctggggaggaacaagcagctaag
aagaaagattga
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integrated database retrieval system
