AJAP1

Chr 1

adherens junctions associated protein 1

Also known as: MOT8, SHREW-1, SHREW1

NCBI Gene: 55966ENSG00000196581UniProt: Q9UKB5

AJAP1 encodes a protein that enables beta-catenin binding and regulates cell adhesion and migration, particularly in epithelial cell differentiation and cell-matrix interactions. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early childhood. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.19), indicating that complete protein loss is poorly tolerated.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
2
Pubs (1 yr)
75
P/LP submissions
0%
P/LP missense
—
LOEUF
LOF
Mechanism· predicted
Clinical Summary— AJAP1
📋
ClinVar Variants
75 unique Pathogenic / Likely Pathogenic· 65 VUS of 158 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

DN
0.3991th %ile
GOF
0.4875th %ile
LOF
0.77top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

158 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic74
Likely Pathogenic1
VUS65
Likely Benign3
Benign3
74
Pathogenic
1
Likely Pathogenic
65
VUS
3
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
74
0
74
Likely Pathogenic
0
0
1
0
1
VUS
0
60
5
0
65
Likely Benign
0
2
1
0
3
Benign
0
2
1
0
3
Total064820146

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

AJAP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
A novel hypoxia-stimulated lncRNA HIF1A-AS3 binds with YBX1 to promote ovarian cancer tumorigenesis by suppressing p21 and AJAP1 transcription.
Xie W et al.·Mol Carcinog
2023
Silencing of AJAP1 expression by promoter methylation activates the Wnt/β-catenin signaling pathway to promote tumor proliferation and metastasis in salivary adenoid cystic carcinoma.
Jiang L et al.·Gland Surg
2023Open Access
Based on disulfidptosis, revealing the prognostic and immunological characteristics of renal cell carcinoma with tumor thrombus of vena cava and identifying potential therapeutic target AJAP1.
Yang L et al.·J Cancer Res Clin Oncol
2023
Hypermethylation in the promoter region inhibits AJAP1 expression and activates the JAK/STAT pathway to promote prostate cancer cell migration and stem cell sphere formation.
Chen L et al.·Pathol Res Pract
2023
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients