| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4747 |
Name | NEFL |
Synonym | CMT1F|CMT2E|NF-L|NF68|NFL;neurofilament, light polypeptide;NEFL;neurofilament, light polypeptide |
Definition | 68 kDa neurofilament protein|light molecular weight neurofilament protein|neurofilament light polypeptide|neurofilament protein, light chain|neurofilament subunit NF-L|neurofilament triplet L protein|neurofilament, light polypeptide 68kDa|neurofilament-li |
Position | 8p21 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Amyotrophic lateral sclerosis (ALS);KEGG PATHWAY;hsa05014 |
Pathway | Synaptic Transmission;Reactome;REACT:13685 |
Disease | Amyotrophic lateral sclerosis;FunDO |
Disease | Central nervous system disease;FunDO |
Disease | Charcot-Marie-Tooth disease;FunDO |
Disease | Myopathy;FunDO |
Disease | Neurodegenerative disorder;FunDO |
Disease | Charcot-Marie-Tooth disease, type 2E;OMIM |
Disease | Charcot-Marie-Tooth disease, type 1F;OMIM |
Disease | HIV infection;FunDO |
External Links | |
Links to Entrez Gene | 4747 |
Links to all GeneRIF Items | 4747 |
Links to iHOP | 4747 |
Sequence Information | |
Nucleotide Sequence | >4747 : length: 1632 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 |
Protein Sequence | >4747 : length: 543 MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSS SGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEA ELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQALQGEREGLEETLRNLQARYEE EVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRA AKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRT TKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFG RSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAK KKD |