Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.
Details on Person UniProt:P32004-1 L1CAM
| Class:Id | ReferenceIsoform:403662 |
|---|---|
| _chainChangeLog | signal peptide:1-19 added on Sat February 7 2015;chain:20-1257 added on Sat February 7 2015 |
| _displayName | UniProt:P32004-1 L1CAM |
| _timestamp | 2026-02-20 22:45:15 |
| chain | signal peptide:1-19 chain:20-1257 |
| checksum | 5EDD764DA86C0E63 |
| comment | FUNCTION Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity.SUBUNIT Interacts with SHTN1; the interaction occurs in axonal growth cones (By similarity). Interacts with isoform 2 of BSG (By similarity).INTERACTION Colocalized with SHTN1 in close apposition with actin filaments in filopodia and lamellipodia of axonalne growth cones of hippocampal neurons (By similarity). In neurons, detected predominantly in axons and cell body, weak localization to dendrites (PubMed:20621658).ALTERNATIVE PRODUCTS The disease is caused by variants affecting the gene represented in this entry. L1CAM mutations have also been found in few patients affected by hydrocephalus with Hirschsprung disease, suggesting a role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease (PubMed:22344793).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease-associated genes to cause intestinal aganglionosis.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Defects in L1CAM are associated with a wide phenotypic spectrum which varies from severe hydrocephalus and prenatal death (HYCX) to a milder phenotype (MASA). These variations may even occur within the same family. Due to the overlap of phenotypes between HYCX and MASA, many authors use the general concept of L1 syndrome which covers both ends of the spectrum.SIMILARITY Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.ONLINE INFORMATION L1CAM mutation Web Page |
| created | [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 |
| description | recommendedName: Neural cell adhesion molecule L1 shortName: N-CAM-L1 shortName: NCAM-L1 cdAntigenNameCD171/cdAntigenName |
| geneName | L1CAM CAML1 MIC5 |
| identifier | P32004 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Cell adhesion Cell membrane Cell projection Developmental protein Differentiation Direct protein sequencing Disease variant Disulfide bond Glycoprotein Hereditary spastic paraplegia Hirschsprung disease Immunoglobulin domain Intellectual disability Membrane Neurodegeneration Neurogenesis Phosphoprotein Proteomics identification Reference proteome Repeat Signal Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20 |
| name | L1CAM |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8997241] ENSEMBL:ENSG00000198910 L1CAM [Homo sapiens] |
| secondaryIdentifier | L1CAM_HUMAN A0AV65 A4ZYW4 B2RMU7 G3XAF4 Q8TA87 |
| sequenceLength | 1257 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | P32004-1 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P32004-1 L1CAM (403662)
