AHI1 (Abelson Helper Integration Site 1) Gene
Key regulator in Joubert syndrome and ciliary function
Gene Information Card
| Symbol | AHI1 |
|---|---|
| Full Name | Abelson helper integration site 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q23.3 |
| NCBI Gene ID | 54806 ncbi.nlm.nih.gov/gene/54806 |
| Ensembl ID | ENSG00000135541 |
| UniProt ID | Q8N157 |
| OMIM ID | 608894 |
| HGNC ID | 21575 |
| Aliases | JBTS3, ORF1, dJ71N10.1 |
Description
AHI1 encodes a protein involved in ciliary function and neurodevelopment. It is essential for the formation of primary cilia and plays a role in the Hedgehog signaling pathway. Mutations in AHI1 are a major cause of Joubert syndrome type 3, a ciliopathy characterized by cerebellar vermis hypoplasia, developmental delay, and oculomotor apraxia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome 3 | Loss of function disrupts ciliary signaling and cerebellar development | OMIM #608894 |
| Nephronophthisis | Ciliary dysfunction leads to renal tubulointerstitial fibrosis | ClinVar |
| Retinitis pigmentosa | Impaired photoreceptor cilia function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.1 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HEK293 | 10.8 | Embryonic kidney |
| HeLa | 7.5 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2174G>A (p.Arg725Gln) | Missense | Rare | Loss of ciliary function |
| c.754C>T (p.Arg252*) | Nonsense | Rare | Premature truncation |
| c.1921_1922delAG | Frameshift | Rare | Loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Most AHI1 mutations are loss-of-function, leading to ciliary defects and Joubert syndrome.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ciliary basal body | • protein binding |
| • cell projection | • Hedgehog signaling pathway |
| • photoreceptor cell maintenance |
Pathways
• Hedgehog signaling pathway
• Ciliopathy pathway
Protein Summary
The AHI1 protein localizes to the base of primary cilia and interacts with proteins such as NPHP1 and NPHP4. It is critical for ciliogenesis and neuronal migration. The protein contains an SH3 domain and multiple WD40 repeats, mediating protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AHI1 Knockout HEK293 Cell Line | EDJ-KQ12317 | Human | 54806 | Details Get a Quote |
| AHI1 Knockout A-549 Cell Line | EDJ-KQ41151 | Human | 54806 | Details Get a Quote |
| AHI1 Knockout HCT 116 Cell Line | EDJ-KQ41152 | Human | 54806 | Details Get a Quote |
| AHI1 Knockout HeLa Cell Line | EDJ-KQ41153 | Human | 54806 | Details Get a Quote |
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