Abelson helper integration site 1 (AHI1) Associated conditions: 1. Retinitis pigmentosa 2. Joubert syndrome 3. Leber congenital amaurosis 4. Nephronophthisis
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001134830.2 | NP_001128302.1 | NC_000006.12 | (135283531..135497739, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001134831.2 | NP_001128303.1 | NC_000006.12 | (135283531..135497739, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001134832.2 | NP_001128304.1 | NC_000006.12 | (135283531..135497739, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001350503.2 | NP_001337432.1 | NC_000006.12 | (135283531..135497739, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001350504.2 | NP_001337433.1 | NC_000006.12 | (135283531..135497739, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_017651.5 | NP_060121.3 | NC_000006.12 | (135283531..135497739, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | XR_001743480.3 | - | NC_000006.12 | (135283531..135497739, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | XR_007059276.1 | - | NC_000006.12 | (135283531..135497739, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | XR_007059277.1 | - | NC_000006.12 | (135283531..135497739, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | XR_007059278.1 | - | NC_000006.12 | (135283531..135497739, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Abelson helper integration site 1 (AHI1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Abelson helper integration site 1 (AHI1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | ISS | involved_in | positive regulation of receptor internalization | Process | - |
| 2 | Homo sapiens | IPI | enables | protein binding | Function | 18633336 22623184 23532844 25825872 |
| 3 | Homo sapiens | IDA | located_in | centrosome | Component | 18633336 |
| 4 | Homo sapiens | IEA | located_in | centriole | Component | - |
| 5 | Homo sapiens | ISS | located_in | centriole | Component | - |
| 6 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 7 | Homo sapiens | IDA | located_in | cell-cell junction | Component | 18633336 |
| 8 | Homo sapiens | IDA | located_in | adherens junction | Component | 18633336 |
| 9 | Homo sapiens | IEA | located_in | adherens junction | Component | - |
| 10 | Homo sapiens | IC | located_in | cilium | Component | 21959375 |
| 11 | Homo sapiens | IDA | located_in | cilium | Component | 18633336 |
| 12 | Homo sapiens | ISS | located_in | cilium | Component | - |
| 13 | Homo sapiens | ISS | involved_in | cell surface receptor protein tyrosine kinase signaling pathway | Process | - |
| 14 | Homo sapiens | ISS | involved_in | intracellular protein localization | Process | - |
| 15 | Homo sapiens | ISS | involved_in | vesicle-mediated transport | Process | - |
| 16 | Homo sapiens | IEA | involved_in | cell projection organization | Process | - |
| 17 | Homo sapiens | IEA | involved_in | cell differentiation | Process | - |
| 18 | Homo sapiens | ISS | involved_in | photoreceptor cell outer segment organization | Process | - |
| 19 | Homo sapiens | NAS | located_in | ciliary transition zone | Component | 22179047 |
| 20 | Homo sapiens | ISS | part_of | MKS complex | Component | - |
| 21 | Homo sapiens | IBA | is_active_in | ciliary basal body | Component | - |
| 22 | Homo sapiens | IDA | located_in | ciliary basal body | Component | 18633336 |
| 23 | Homo sapiens | IPI | enables | identical protein binding | Function | 23532844 |
| 24 | Homo sapiens | ISS | involved_in | negative regulation of apoptotic process | Process | - |
| 25 | Homo sapiens | IBA | involved_in | motile cilium assembly | Process | - |
| 26 | Homo sapiens | ISS | involved_in | positive regulation of transcription by RNA polymerase II | Process | - |
| 27 | Homo sapiens | ISS | involved_in | regulation of behavior | Process | - |
| 28 | Homo sapiens | IMP | involved_in | cilium assembly | Process | 21959375 |
| 29 | Homo sapiens | ISS | involved_in | cilium assembly | Process | - |
| 30 | Homo sapiens | ISS | located_in | non-motile cilium | Component | - |
| 31 | Homo sapiens | NAS | involved_in | protein localization to ciliary transition zone | Process | 22179047 |