AJAP1 Gene: Adherens Junction Associated Protein 1
Comprehensive genomic and functional overview of AJAP1, a tumor suppressor gene implicated in cell adhesion and cancer progression.
Gene Information Card
| Symbol | AJAP1 |
|---|---|
| Full Name | Adherens junction associated protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.32 |
| NCBI Gene ID | 55966 ncbi.nlm.nih.gov/gene/55966 |
| Ensembl ID | ENSG00000117419 |
| UniProt ID | Q9UKB5 |
| OMIM ID | 609231 |
| HGNC ID | 30811 |
| Aliases | SHREW1, FLJ10305, MGC131962 |
Description
AJAP1 (adherens junction associated protein 1), also known as SHREW1, encodes a transmembrane protein that localizes to adherens junctions and modulates cell-cell adhesion. It is involved in the regulation of cell migration, proliferation, and invasion. AJAP1 is frequently downregulated in various cancers, suggesting a tumor suppressor role. The gene is located on chromosome 1p36.32, a region often deleted in malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | Loss of AJAP1 expression disrupts adherens junctions, promoting invasion and migration of glioma cells. | PMID: 19366877; NCBI Gene |
| Hepatocellular carcinoma | Downregulation of AJAP1 correlates with poor prognosis and increased metastatic potential. | PMID: 25695629; NCBI Gene |
| Breast cancer | Epigenetic silencing of AJAP1 contributes to tumor progression and metastasis. | PMID: 24614226; NCBI Gene |
| Prostate cancer | Reduced AJAP1 expression is associated with aggressive disease and recurrence. | PMID: 27197149; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Liver | 5.1 | Low |
| Breast | 3.8 | Low |
| Prostate | 4.5 | Low |
| Kidney | 6.7 | Medium |
| Lung | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U87MG (glioblastoma) | 12.3 | High expression; used in functional studies |
| HepG2 (hepatocellular carcinoma) | 4.1 | Low expression; consistent with tumor suppression |
| MCF7 (breast cancer) | 2.5 | Very low expression; epigenetic silencing |
| PC3 (prostate cancer) | 3.0 | Low expression; associated with aggressive phenotype |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of start codon; predicted loss of function |
| c.325C>T (p.Arg109*) | Nonsense | <0.1% | Premature stop; loss of function |
| c.487_488del (p.Leu163fs) | Frameshift | <0.1% | Frameshift; loss of function |
| c.712G>A (p.Gly238Arg) | Missense | <0.1% | Uncertain significance; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations in AJAP1 are predicted to result in truncated or absent protein, consistent with its proposed tumor suppressor role.
Gain of Function (GOF)
No gain-of-function mutations have been reported for AJAP1.
Dominant Negative (DN)
No dominant-negative mutations have been described for AJAP1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005912 - adherens junction | • GO:0007155 - cell adhesion |
| • GO:0016021 - integral component of membrane | • GO:0045216 - cell-cell junction organization |
| • GO:0005886 - plasma membrane |
Pathways
• Adherens junction (KEGG: hsa04520)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
AJAP1 encodes a 401-amino acid transmembrane protein with a single pass domain. It localizes to adherens junctions and interacts with beta-catenin and E-cadherin complexes, modulating cell-cell adhesion. The protein is involved in cytoskeletal organization and signal transduction. Loss of AJAP1 expression is associated with increased cell motility and invasion in multiple cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AJAP1 Knockout HEK293 Cell Line | EDJ-KQ11984 | Human | 55966 | Details Get a Quote |
| AJAP1 Knockout HeLa Cell Line | EDJ-KQ56657 | Human | 55966 | Details Get a Quote |
| AJAP1 Knockout A-549 Cell Line | EDJ-KQ65163 | Human | 55966 | Details Get a Quote |
| AJAP1 Knockout HCT 116 Cell Line | EDJ-KQ73599 | Human | 55966 | Details Get a Quote |
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