AMOTL1
Angiomotin-like 1: A scaffold protein in tight junction and Hippo signaling
Gene Information Card
| Symbol | AMOTL1 |
|---|---|
| Full Name | angiomotin like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q21 |
| NCBI Gene ID | 154810 ncbi.nlm.nih.gov/gene/154810 |
| Ensembl ID | ENSG00000166033 |
| UniProt ID | Q6UXX9 |
| OMIM ID | 614657 |
| HGNC ID | 17812 |
| Aliases | JEAP, MGC45871, angiomotin-like protein 1 |
Description
AMOTL1 encodes angiomotin-like 1, a member of the angiomotin family of scaffold proteins. It localizes to tight junctions and regulates cell migration, polarity, and proliferation by modulating YAP1/TAZ transcriptional activity through the Hippo signaling pathway. AMOTL1 also interacts with F-actin and is involved in endothelial cell migration and angiogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung adenocarcinoma | AMOTL1 overexpression correlates with YAP1 activation and poor prognosis | PMID: 31695172 |
| Breast cancer | AMOTL1 loss promotes YAP1 nuclear translocation and tumor growth | PMID: 28846073 |
| Gastric cancer | AMOTL1 downregulation associated with lymph node metastasis | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 14.5 | Medium |
| Breast | 9.2 | Low |
| Stomach | 11.8 | Medium |
| Placenta | 20.3 | High |
| Kidney | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 12.3 | AMOTL1 expressed |
| MCF7 (breast) | 7.6 | Moderate expression |
| HEK293 (embryonic kidney) | 15.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | missense | <0.01% (gnomAD) | Unknown functional effect |
| c.1420_1421del (p.Glu474fs) | frameshift | <0.01% (COSMIC) | Predicted loss of function |
| c.788A>G (p.Asn263Ser) | missense | <0.01% (ClinVar) | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein are predicted to cause loss of function, impairing tight junction localization and YAP1 regulation.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for AMOTL1.
Dominant Negative (DN)
Missense variants in the coiled-coil domain may disrupt protein-protein interactions and exert dominant-negative effects, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005911 – cell-cell junction | • GO:0005923 – bicellular tight junction |
| • GO:0035329 – hippo signaling | • GO:0051015 – actin filament binding |
| • GO:0042802 – identical protein binding | • GO:0005515 – protein binding |
Pathways
• Hippo signaling pathway (KEGG: hsa04390)
• Tight junction (KEGG: hsa04530)
• YAP1/TAZ regulation (Reactome: R-HSA-8939211)
Protein Summary
AMOTL1 is a 675-amino-acid scaffold protein containing a coiled-coil domain and a C-terminal PDZ-binding motif. It localizes to tight junctions and binds YAP1/TAZ, retaining them in the cytoplasm and inhibiting their transcriptional co-activator function. AMOTL1 also interacts with F-actin and is involved in cell migration, polarity, and angiogenesis. Its expression is highest in placenta and lung, and dysregulation is implicated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMOTL1 Knockout HEK293 Cell Line | EDJ-KQ2176 | Human | 154810 | Details Get a Quote |
| AMOTL1 Knockout A-549 Cell Line | EDJ-KQ22387 | Human | 154810 | Details Get a Quote |
| AMOTL1 Knockout HCT 116 Cell Line | EDJ-KQ22388 | Human | 154810 | Details Get a Quote |
| AMOTL1 Knockout HeLa Cell Line | EDJ-KQ22389 | Human | 154810 | Details Get a Quote |
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