LIN7A: A Scaffold Protein in Cell Polarity and Signaling
Comprehensive genomic and proteomic overview of LIN7A, a member of the LIN-7 family involved in epithelial and neuronal cell junction organization.
Gene Information Card
| Symbol | LIN7A |
|---|---|
| Full Name | lin-7 homolog A, crumbs cell polarity complex component |
| Gene Type | protein-coding |
| Chromosomal Location | 12q21.31 |
| NCBI Gene ID | 8825 ncbi.nlm.nih.gov/gene/8825 |
| Ensembl ID | ENSG00000111052 |
| UniProt ID | O14910 |
| OMIM ID | 603380 |
| HGNC ID | 17787 |
| Aliases | MALS-1, Veli1, LIN-7A, TIP-33 |
Description
LIN7A (lin-7 homolog A) is a member of the LIN-7 family of scaffold proteins that localize to cell-cell junctions in epithelial and neuronal tissues. It forms a complex with CASK and APBA1 to regulate polarized protein targeting and synaptic vesicle exocytosis. LIN7A is essential for maintaining epithelial polarity and neuronal connectivity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | LIN7A overexpression may disrupt epithelial polarity and promote invasion | PMID: 21573172 |
| Colorectal cancer | Reduced LIN7A expression correlates with loss of cell adhesion and metastasis | PMID: 23431179 |
| Schizophrenia | LIN7A variants implicated in synaptic dysfunction | PMID: 20468064 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Liver | 2.4 | Low |
| Heart | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.8 | Moderate expression |
| SH-SY5Y | 18.1 | Neuronal cell line, high expression |
| MCF7 | 7.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70Trp) | Missense | 0.01% (gnomAD) | May alter PDZ domain binding |
| c.341G>A (p.Gly114Asp) | Missense | 0.005% (gnomAD) | Unknown functional impact |
| c.472_473insA (p.Thr158Asnfs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, disrupting scaffold function.
Gain of Function (GOF)
Not reported for LIN7A.
Dominant Negative (DN)
Missense mutations in the PDZ domain may interfere with normal protein interactions.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell junction organization (Reactome: R-HSA-446728)
• Synaptic vesicle cycle (Reactome: R-HSA-112310)
• Tight junction interactions (KEGG: hsa04530)
Protein Summary
LIN7A is a 233-amino-acid scaffold protein containing a PDZ domain and an L27 domain. It localizes to basolateral membranes in epithelial cells and to presynaptic terminals in neurons. Through interactions with CASK, APBA1, and other partners, LIN7A links cell adhesion molecules to the cytoskeleton and vesicle trafficking machinery, playing a key role in cell polarity and neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIN7A Knockout HEK293 Cell Line | EDJ-KQ6375 | Human | 8825 | Details Get a Quote |
| LIN7A Knockout A-549 Cell Line | EDJ-KQ30369 | Human | 8825 | Details Get a Quote |
| LIN7A Knockout HCT 116 Cell Line | EDJ-KQ30370 | Human | 8825 | Details Get a Quote |
| LIN7A Knockout HeLa Cell Line | EDJ-KQ55015 | Human | 8825 | Details Get a Quote |
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