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Details on Person UniProt:O94856-7 NFASC
| Class:Id | ReferenceIsoform:239489 |
|---|---|
| _chainChangeLog | signal peptide:1-24 added on Sat February 7 2015;chain:25-1347 added on Sat February 7 2015 |
| _displayName | UniProt:O94856-7 NFASC |
| _timestamp | 2024-11-03 19:52:50 |
| chain | signal peptide:1-24 chain:25-1347 |
| checksum | 4DC555E5AA06C223 |
| comment | FUNCTION Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.SUBUNIT Horseshoe-shaped homodimer. Probable constituent of a NFASC/NRCAM/ankyrin-G complex. Associates with the sodium channel beta-1 (SCN1B) and beta-3 (SCN3B) subunits. Interacts with GLDN/gliomedin (By similarity). Interacts with MYOC.INTERACTION Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS May be due to intron retention.MISCELLANEOUS May be due to intron retention.SIMILARITY Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Neurofascin |
| geneName | NFASC KIAA0756 |
| identifier | O94856 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Cell adhesion Cell junction Cell membrane Disease variant Disulfide bond Glycoprotein Immunoglobulin domain Membrane Phosphoprotein Proteomics identification Reference proteome Repeat Signal Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | NFASC |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9002493] ENSEMBL:ENSG00000163531 NFASC [Homo sapiens] |
| secondaryIdentifier | NFASC_HUMAN B2RNN8 B3KQZ1 B5MDP6 B5MDR6 B7ZMD8 Q149P5 Q5T2F0 Q5T2F1 Q5T2F2 Q5T2F3 Q5T2F4 Q5T2F5 Q5T2F6 Q5T2F7 Q5T2F9 Q5T2G0 Q5W9F8 Q68DH3 Q6ZQV6 Q7Z3K1 Q96HT1 Q96K50 |
| sequenceLength | 1347 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | O94856-7 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:O94856-7 NFASC (239489)
