KEGG   Homo sapiens (human): 4747Help
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 (ALS)
Disease
H00264  Charcot-Marie-Tooth disease (CMT)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Human Diseases
  Neurodegenerative diseases
   05014 Amyotrophic lateral sclerosis (ALS)
    4747 (NEFL)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein Ser/ Thr 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 OrthologParalogGFIT
Motif
Pfam: Filament Filament_head DUF1664 TPR_MLP1_2 Lectin_N DUF573
Motif
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 AA seqDB search
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSS
SGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEA
ELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQALQGEREGLEETLRNLQARYEE
EVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRA
AKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRT
TKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFG
RSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAK
KKD
NT seq 1632 nt NT seq  +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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