CHL1
Summary: The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011].
Loading, please wait...
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:607416 Ensembl IDEnsembl:ENSG00000134121 HGNC IDHGNC:HGNC:1939 PHARMGKB IDPA26470 Map Location3p26.3 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in CHL1
Loading, please wait...
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0002020 | protease binding |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0030425 | dendrite |
| CC | IEA | GO:0045177 | apical part of cell |
| CC | HDA | GO:0070062 | extracellular exosome |
Gene expression in normal tissue: CHL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CHL1
Loading, please wait...
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-447041 | CHL1 interactions |
| wikipathways | WP4148 | Splicing factor NOVA regulated synaptic proteins |
Showing 1 to 5 of 5 rows
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CHL1
Loading, please wait...
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.