Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54806
MIM: 608894
HGNC: 21575
Ensembl: ENSG00000135541
Variants:
dbSNP: 54806
ClinVar: 54806
TCGA: ENSG00000135541
COSMIC: AHI1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Cilium Assembly | REACTOME | R-HSA-5617833 |
| Anchoring of the basal body to the plasma membrane | REACTOME | R-HSA-5620912 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38036661 | 2024 | Abelson Helper Integration Site 1 haplotypes and peripheral blood expression associates with lithium response and immunomodulation in bipolar patients. | 0 |
| 38036661 | 2024 | Abelson Helper Integration Site 1 haplotypes and peripheral blood expression associates with lithium response and immunomodulation in bipolar patients. | 0 |
| 34191236 | 2021 | Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum. | 2 |
| 34191236 | 2021 | Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum. | 2 |
| 31786207 | 2020 | Reduction of AHI1 in the serum of Taiwanese with probable Alzheimer's disease. | 4 |
| 32335874 | 2020 | [Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome]. | 0 |
| 31786207 | 2020 | Reduction of AHI1 in the serum of Taiwanese with probable Alzheimer's disease. | 4 |
| 32335874 | 2020 | [Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome]. | 0 |
| 29409597 | 2018 | The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults. | 7 |
| 29496693 | 2018 | LINE-1 ORF1 Protein Is Up-regulated by Reactive Oxygen Species and Associated with Bladder Urothelial Carcinoma Progression. | 14 |
| 29409597 | 2018 | The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults. | 7 |
| 29496693 | 2018 | LINE-1 ORF1 Protein Is Up-regulated by Reactive Oxygen Species and Associated with Bladder Urothelial Carcinoma Progression. | 14 |
| 28334850 | 2017 | Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion. | 46 |
| 28361800 | 2017 | The product of the human AHI-1 (Abelson helper integration site) gene: experimental in vitro data point to its involvement in tumor cell invasion. | 0 |
| 28366933 | 2017 | A novel AHI-1-BCR-ABL-DNM2 complex regulates leukemic properties of primitive CML cells through enhanced cellular endocytosis and ROS-mediated autophagy. | 14 |
Citation
Dessen P
AHI1 (Abelson helper integration site 1)
Atlas Genet Cytogenet Oncol Haematol. 2012-12-01
Online version: http://atlasgeneticsoncology.org/gene/53090/ahi1
