KEGG   Homo sapiens (human): 4747
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
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)
SSDB
Motif
Pfam: Filament Filament_head DUF1664 TPR_MLP1_2
Other DBs
NCBI-GeneID: 4747
NCBI-ProteinID: NP_006149
OMIM: 162280
HGNC: 7739
Ensembl: ENSG00000277586
UniProt: P07196
Position
8:complement(24950955..24956612)
AA seq 543 aa
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSS
SGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEA
ELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQALQGEREGLEETLRNLQARYEE
EVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRA
AKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRT
TKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFG
RSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAK
KKD
NT seq 1632 nt   +upstreamnt  +downstreamnt
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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (5)   
   KEGG DISEASE (1)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (33)   
   RefSeq(nuc) (1)   
   GenBank (16)   
   EMBL (16)   
Protein domain (4)   
   Pfam (4)   
All databases (65)   

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