AutismKB 2.0

Annotation Details for NEFL


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Basic Information Top
Gene Symbol:NEFL ( CMT1F,CMT2E,FLJ53642,NF-L,NF68,NFL )
Gene Full Name: neurofilament, light polypeptide
Band: 8p21.2
Quick LinksEntrez ID:4747; OMIM: 162280; Uniprot ID:NFL_HUMAN; ENSEMBL ID: ENSG00000104725; HGNC ID: 7739
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737ISS-cytoplasm-
GO:0005829TAS-cytosol-
GO:0005883IDA-neurofilament15857389
GO:0030424IDA-axon14662745
GO:0030426IEA-growth cone-
GO:0033596IDAcolocalizes_withTSC1-TSC2 complex12226091
GO:0043209IEA-myelin sheath-
GO:1904115IEA-axon cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0005088TAS-Ras guanyl-nucleotide exchange factor activity-
GO:0005200IDA-structural constituent of cytoskeleton12432080
GO:0005515IPI-protein binding12837694
GO:0008022IPI-protein C-terminus binding12226091
GO:0019904IEA-protein domain specific binding-
GO:0030674ISS-protein binding, bridging-
GO:0042802IPI-identical protein binding12432080
GO:0043274IEA-phospholipase binding-
GO:0046982IEA-protein heterodimerization activity-
GO ID Evidence Qualifier GO_term References
GO:0000165TAS-MAPK cascade-
GO:0000226IEA-microtubule cytoskeleton organization-
GO:0008089IMP-anterograde axonal transport15857389
GO:0008090IMP-retrograde axonal transport15857389
GO:0009636IEA-response to toxic substance-
GO:0014012IEA-peripheral nervous system axon regeneration-
GO:0019896IMP-axonal transport of mitochondrion15857389
GO:0021510IEA-spinal cord development-
GO:0021766IEA-hippocampus development-
GO:0021987IEA-cerebral cortex development-
GO:0031133IEA-regulation of axon diameter-
GO:0033693IDA-neurofilament bundle assembly12432080
GO:0033693IMP-neurofilament bundle assembly15857389
GO:0040011IEA-locomotion-
GO:0043434IEA-response to peptide hormone-
GO:0043524IEA-negative regulation of neuron apoptotic process-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0045105IEA-intermediate filament polymerization or depolymerization-
GO:0045109IMP-intermediate filament organization12432080
GO:0048812IEA-neuron projection morphogenesis-
GO:0050772IEA-positive regulation of axonogenesis-
GO:0050885IEA-neuromuscular process controlling balance-
GO:0051258IEA-protein polymerization-
GO:0051412IEA-response to corticosterone-
GO:1903935IEA-response to sodium arsenite-
GO:1903937IEA-response to acrylamide-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NEFLMAP21103051902666 Reconstituted Complex
NEFLMAP21108221902666 Reconstituted Complex
NEFLNEFH1108199388258 Co-purification
NEFLNEFH1108229388258 Co-purification
SPTAN1NEFL1125873121319 Reconstituted Complex
SPTAN1NEFL1108223121319 Reconstituted Complex
PKN1NEFL1115718621664 Reconstituted Complex; Two-hybrid
PKN1NEFL1108228621664 Reconstituted Complex; Two-hybrid
TSC1NEFL11309912226091 Affinity Capture-Western; Two-hybrid
TSC1NEFL11082212226091 Affinity Capture-Western; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
NEFLNEFL_C224T, NEFL_C487T, NEFL_G163A Gene overview in PDGene
Gene Symbol Poly Names Gene overview in SZGene
NEFLrs1059111, rs2976437, rs8077 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:97313
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-060312-44'