| Gene Information | |
|---|---|
| Gene Name | AHI1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1196 |
| Protein Names | Jouberin (Abelson helper integration site 1 protein homolog) (AHI-1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1488 ( ENSG00000135541 ) |
| Evolutionary Stage | Euk+Bac |
| AlphaFoldDB | Q8N157 |
| Gene Card | AHI1 |
| Uniprot ID | Q8N157 |
| Pfam | PF00018; PF00400 |
| In ASD | no |
| Allosteric Prediction | no (-0.413876404) |
| Ortholog in Animals | Alpaca_ AHI1 ( ortholog_one2one ) Dog_ AHI1 ( ortholog_one2one ) Macaque_ AHI1 ( ortholog_one2one ) Mouse_ Ahi1 ( ortholog_one2one ) Pig_ AHI1 ( ortholog_one2one ) Rat_ Ahi1 ( ortholog_one2one ) Rabbit_ AHI1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | DAW1, WDR43, WDR7, COP1, TBL2, POC1B, WDR88, PAFAH1B1, WDR17, NWD1, WDR62, PAK1IP1, DCAF4L1, WDR27, WDR5B, WDR5, NEDD1, MAPKBP1, TEP1, SNRNP40, WDR75, WDR81, POC1A, DCAF4L2, DCAF4, WDR38 |
| Tissue | NA |
| Tissue Specificity | Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (renal collecting duct cells) (at protein level). {ECO:0000269|PubMed:14751929, ECO:0000269|PubMed:15322546, ECO:0000269|PubMed:18633336}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4ESR (X-ray 1.53A ) |
| DBSNP | rs397514726 rs121434350 rs35433555 rs267606641 rs772989270 rs863225134 rs121434351 rs794727174 rs13312995 rs199736888 rs863225135 rs41288013 rs6940875 rs148000791 rs117447608 rs201148693 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:21623382, ECO:0000269|PubMed:23532844}. Cell junction, adherens junction {ECO:0000269|PubMed:18633336, ECO:0000269|PubMed:23532844}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:Q8K3E5}. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium. {ECO:0000250|UniProtKB:Q8K3E5}. |
| Mouse PG classification | NA |
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