AMIGO1: Adhesion Molecule with Ig-like Domain 1
A transmembrane protein involved in neuronal development and cell adhesion
Gene Information Card
| Symbol | AMIGO1 |
|---|---|
| Full Name | Adhesion Molecule with Ig-like Domain 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 154796 ncbi.nlm.nih.gov/gene/154796 |
| Ensembl ID | ENSG00000134202 |
| UniProt ID | Q86WK6 |
| OMIM ID | 615689 |
| HGNC ID | 20673 |
| Aliases | ALI1, AMIGO, KIAA1851 |
Description
AMIGO1 (Adhesion Molecule with Ig-like Domain 1) encodes a type I transmembrane protein containing leucine-rich repeats and an immunoglobulin-like domain. It is primarily expressed in the nervous system and plays a role in neuronal development, axon guidance, and cell adhesion. The protein may also be involved in tumorigenesis through modulation of cell-cell interactions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered AMIGO1 expression may affect synaptic adhesion and neural connectivity, contributing to disease pathology. | Association studies (PMID: 21497193) |
| Bipolar Disorder | Dysregulation of AMIGO1 in prefrontal cortex linked to synaptic dysfunction. | Expression analysis (PMID: 22476612) |
| Colorectal Cancer | AMIGO1 overexpression promotes cell proliferation and invasion via adhesion signaling. | In vitro studies (PMID: 25636849) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.2 | Medium |
| Cerebellum | 10.8 | Medium |
| Spinal cord | 8.3 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.7 | High expression |
| U-87 MG (glioblastoma) | 14.2 | Medium expression |
| HEK 293 (embryonic kidney) | 6.5 | Low expression |
| HCT 116 (colorectal carcinoma) | 22.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.782G>A (p.Arg261His) | Missense | 0.005% (gnomAD) | Predicted benign |
| c.1234_1235insA (p.Thr412AsnfsTer2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr412AsnfsTer2) likely lead to truncated protein and loss of adhesion function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) |
| • neuron projection development (GO:0031175) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) |
Pathways
• Cell adhesion molecules (CAMs) - Homo sapiens (hsa04514)
• Axon guidance (hsa04360)
Protein Summary
The AMIGO1 protein is a 509-amino-acid type I transmembrane glycoprotein with an N-terminal signal peptide, six leucine-rich repeats, a cysteine-rich flanking region, an immunoglobulin-like domain, a transmembrane domain, and a cytoplasmic tail. It forms homodimers and mediates calcium-independent homophilic cell adhesion. In neurons, it promotes neurite outgrowth and fasciculation. The protein is also implicated in cancer cell adhesion and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMIGO1 Knockout HEK293 Cell Line | EDJ-KQ12339 | Human | 57463 | Details Get a Quote |
| AMIGO1 Knockout A-549 Cell Line | EDJ-KQ41188 | Human | 57463 | Details Get a Quote |
| AMIGO1 Knockout HeLa Cell Line | EDJ-KQ41189 | Human | 57463 | Details Get a Quote |
| AMIGO1 Knockout HCT 116 Cell Line | EDJ-KQ73792 | Human | 57463 | Details Get a Quote |
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