NFASC
Summary: This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| neurofascin | MIM:609145 | Ensembl:ENSG00000163531 | HGNC:HGNC:29866 | PA128395771 | 1q32.1 |
GO terms in NFASC
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0002175 | protein localization to paranode region of axon |
| BP | IEA | GO:0007411 | axon guidance |
| BP | ISS | GO:0007422 | peripheral nervous system development |
| BP | IEA | GO:0019226 | transmission of nerve impulse |
| BP | IEA | GO:0030913 | paranodal junction assembly |
| BP | IEA | GO:0034113 | heterotypic cell-cell adhesion |
| BP | ISS | GO:0042552 | myelination |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IEA | GO:0045162 | clustering of voltage-gated sodium channels |
| BP | IEA | GO:0050808 | synapse organization |
| BP | IEA | GO:0071205 | protein localization to juxtaparanode region of axon |
| BP | IEA | GO:0072659 | protein localization to plasma membrane |
| CC | ISS | GO:0005622 | intracellular |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | HDA | GO:0005925 | focal adhesion |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0030425 | dendrite |
| CC | IEA | GO:0033010 | paranodal junction |
| CC | ISS | GO:0033268 | node of Ranvier |
| CC | TAS | GO:0033268 | node of Ranvier |
| CC | IEA | GO:0033270 | paranode region of axon |
| CC | ISS | GO:0043194 | axon initial segment |
| CC | IEA | GO:0043209 | myelin sheath |
| CC | IEA | GO:0097454 | Schwann cell microvillus |
| CC | TAS | GO:0101003 | ficolin-1-rich granule membrane |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0019904 | protein domain specific binding |
| MF | IEA | GO:0086080 | protein binding involved in heterotypic cell-cell adhesion |
Gene expression in normal tissue: NFASC
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NFASC
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-445095 | Interaction between L1 and Ankyrins |
| reactome | R-HSA-447043 | Neurofascin interactions |
| reactome | R-HSA-447043 | Neurofascin interactions |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| kegg | hsa04514 | Cell adhesion molecules (CAMs) - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NFASC
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