KEGG   Homo sapiens (human): 4747
Entry
4747              CDS       T01001                                 

Gene name
NEFL, CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110
Definition
(RefSeq) neurofilament light
  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 Lectin_N DUF573
Other DBs
NCBI-GeneID: 4747
NCBI-ProteinID: NP_006149
OMIM: 162280
HGNC: 7739
Ensembl: ENSG00000277586
Vega: OTTHUMG00000134284
Pharos: P07196(Tbio)
UniProt: P07196
Position
8p21.2
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

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (5)   
   KEGG DISEASE (1)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (33)   
   RefSeq(nuc) (1)   
   GenBank (16)   
   EMBL (16)   
Protein domain (6)   
   Pfam (6)   
All databases (69)   

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