NFASC

Neurofascin is a protein that in humans is encoded by the NFASC gene.^[5][6][7]

NFASC
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3P3Y, 3P40
Identifiers
Aliases	NFASC, NF, NRCAML, neurofascin, NEDCPMD
External IDs	OMIM: 609145; MGI: 104753; HomoloGene: 24945; GeneCards: NFASC; OMA:NFASC - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q32.1 Start 204,828,651 bp[1] End 205,022,822 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 E4|1 57.42 cM Start 132,492,428 bp[2] End 132,669,535 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior olivary nucleus lateral nuclear group of thalamus external globus pallidus corpus callosum dorsal motor nucleus of vagus nerve inferior ganglion of vagus nerve glomerulus metanephric glomerulus pars reticulata pars compacta Top expressed in neural layer of retina visual cortex primary visual cortex central gray substance of midbrain cerebellar cortex superior cervical ganglion superior frontal gyrus anterior horn of spinal cord pontine nuclei lumbar subsegment of spinal cord More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein domain specific binding protein binding protein binding involved in heterotypic cell-cell adhesion Cellular component integral component of membrane membrane focal adhesion myelin sheath plasma membrane Schwann cell microvillus intracellular anatomical structure axon paranodal junction axon initial segment paranode region of axon extracellular exosome node of Ranvier ficolin-1-rich granule membrane dendrite integral component of plasma membrane Biological process clustering of voltage-gated sodium channels peripheral nervous system development transmission of nerve impulse heterotypic cell-cell adhesion synapse organization protein localization to paranode region of axon cell adhesion paranodal junction assembly myelination protein localization to juxtaparanode region of axon axon guidance neutrophil degranulation protein localization to plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23114 269116 Ensembl ENSG00000163531 ENSMUSG00000026442 UniProt O94856 Q810U3 RefSeq (mRNA) NM_001005387 NM_001005388 NM_001005389 NM_001160331 NM_001160332 NM_001160333 NM_015090 NM_001365986 NM_001378330 NM_001378331 NM_001378329 NM_001160316 NM_001160317 NM_001160318 NM_182716 RefSeq (protein) NP_001005388 NP_001005389 NP_001153803 NP_001153804 NP_001153805 NP_055905 NP_001352915 NP_001365259 NP_001365260 NP_001365258 NP_001153788 NP_001153789 NP_001153790 NP_874385 Location (UCSC) Chr 1: 204.83 – 205.02 Mb Chr 1: 132.49 – 132.67 Mb PubMed search [3] [4]
Wikidata
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Function

Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM) involved in axon subcellular targeting and synapse formation during neural development.^[7][8]

Clinical importance

A homozygous mutation causing loss of Nfasc155 causes severe congenital hypotonia, contractures of fingers and toes and no reaction to touch or pain.^[9]