AHI1
Gene Information
- Official Symbol: AHI1
- Official Name: Abelson helper integration site 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 54806
- UniProt: Q8N157
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008].
- UniProt Summary: N/A
Pfam Domains GO Terms
Pfam Domains
| SH3 1 |
| SH3 2 |
| WD40 |
GO Terms
| pronephric nephron morphogenesis |
| pronephric duct development |
| pronephric nephron tubule morphogenesis |
| positive regulation of polarized epithelial cell differentiation |
| pronephric duct morphogenesis |
| Kupffers vesicle development |
| pronephric nephron tubule development |
| regulation of polarized epithelial cell differentiation |
| pronephric nephron development |
| pronephros morphogenesis |
| cloaca development |
| specification of axis polarity |
| pronephros development |
| photoreceptor cell outer segment organization |
| nephric duct morphogenesis |
| left/right axis specification |
| MKS complex |
| otic vesicle development |
| nephric duct development |
| left/right pattern formation |
| retina layer formation |
| positive regulation of receptor internalization |
| non-motile cilium |
| positive regulation of morphogenesis of an epithelium |
| morphogenesis of a polarized epithelium |
| photoreceptor cell development |
| digestive tract morphogenesis |
| retina morphogenesis in camera-type eye |
| positive regulation of receptor-mediated endocytosis |
| regulation of receptor internalization |
| photoreceptor cell differentiation |
| neural retina development |
| positive regulation of epithelial cell differentiation |
| heart looping |
| adherens junction |
| nephron tubule morphogenesis |
| embryonic heart tube morphogenesis |
| determination of heart left/right asymmetry |
| nephron epithelium morphogenesis |
| nephron morphogenesis |
| renal tubule morphogenesis |
| regulation of behavior |
| embryonic heart tube development |
| nephron tubule development |
| renal tubule development |
| kidney morphogenesis |
| axis specification |
| ciliary basal body-plasma membrane docking |
| nephron epithelium development |
| positive regulation of endocytosis |
| regulation of receptor-mediated endocytosis |
| camera-type eye morphogenesis |
| determination of left/right symmetry |
| determination of bilateral symmetry |
| specification of symmetry |
| nephron development |
| kidney epithelium development |
| digestive tract development |
| ciliary basal body |
| retina development in camera-type eye |
| centriole |
| regulation of epithelial cell differentiation |
| digestive system development |
| eye morphogenesis |
| hindbrain development |
| organelle localization by membrane tethering |
| cell-cell junction |
| membrane docking |
| regulation of morphogenesis of an epithelium |
| inner ear development |
| cilium |
| regulation of endocytosis |
| ear development |
| heart morphogenesis |
| sensory organ morphogenesis |
| regulation of animal organ morphogenesis |
| kidney development |
| renal system development |
| embryonic organ morphogenesis |
| epithelial tube morphogenesis |
| camera-type eye development |
| urogenital system development |
| regionalization |
| cilium assembly |
| eye development |
| visual system development |
| sensory system development |
| cilium organization |
| morphogenesis of an epithelium |
| embryonic organ development |
| pattern specification process |
| plasma membrane bounded cell projection assembly |
| cell projection assembly |
| centrosome |
| transmembrane receptor protein tyrosine kinase signaling pathway |
| heart development |
| sensory organ development |
| regulation of vesicle-mediated transport |
| tissue morphogenesis |
| embryonic morphogenesis |
| organelle localization |
| tube morphogenesis |
| enzyme linked receptor protein signaling pathway |
| brain development |
| organelle assembly |
| head development |
| neuron development |
| tube development |
| circulatory system development |
| negative regulation of apoptotic process |
| anatomical structure formation involved in morphogenesis |
| negative regulation of programmed cell death |
| animal organ morphogenesis |
| positive regulation of cell differentiation |
| embryo development |
| central nervous system development |
| positive regulation of transport |
| negative regulation of cell death |
| neuron differentiation |
| regulation of anatomical structure morphogenesis |
| identical protein binding |
| epithelium development |
| plasma membrane bounded cell projection organization |
| cell projection organization |
| positive regulation of cellular component organization |
| positive regulation of transcription by RNA polymerase II |
| positive regulation of developmental process |
| generation of neurons |
| positive regulation of transcription, DNA-templated |
| regulation of apoptotic process |
| regulation of programmed cell death |
| cellular protein localization |
| cellular macromolecule localization |
| neurogenesis |
| positive regulation of nucleic acid-templated transcription |
| positive regulation of RNA biosynthetic process |
| cell development |
| regulation of cell death |
| positive regulation of RNA metabolic process |
| tissue development |
| regulation of cell differentiation |
| regulation of transport |
| positive regulation of nucleobase-containing compound metabolic process |
| positive regulation of macromolecule biosynthetic process |
| vesicle-mediated transport |
| positive regulation of cellular biosynthetic process |
| positive regulation of gene expression |
| positive regulation of biosynthetic process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
| Screen | Score |
|---|---|
| Nocodazole 0.2μM R00 exp24 | -1.97 |
| 5-Fluorouracil 2μM R00 exp1 | -1.81 |
| Geldanamycin 0.015 to 0.05μM on day4 R07 exp317 | -1.78 |
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/28 |
| bone | 0/26 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/16 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/16 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 18319
- Expression level (log2 read counts): 6.29
Expression Distribution
AHI1 Expression in NALM6 Cells: 6.29
