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MGI:Ahi1
Contents |
| Species (Taxon ID) | Mus musculus (house mouse) (taxon:10090) | |
| Gene Name(s) | Ahi1 ( synonyms: Ahi-1, D10Bwg0629e, Jouberin ) | |
| Protein Name(s) | Abelson helper integration site 1, | |
| External Links | ||
| MGI | MGI:87971 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0001738 |
morphogenesis of a polarized epithelium |
MGI:MGI:5306539 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0001947 |
heart looping |
MGI:MGI:5306539 |
IGI: Inferred from Genetic Interaction |
P |
From MGI |
|||
| GO:0002092 |
positive regulation of receptor internalization |
MGI:MGI:4840150 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0005515 |
protein binding |
MGI:MGI:5013991 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0963 |
C |
From MGI |
||
| GO:0005813 |
centrosome |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005814 |
centriole |
MGI:MGI:4360424 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005856 |
cytoskeleton |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0206 |
C |
From MGI |
||
| GO:0005911 |
cell-cell junction |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005912 |
adherens junction |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005929 |
cilium |
MGI:MGI:4437526 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005929 |
cilium |
MGI:MGI:5306539 |
IC: Inferred by Curator |
GO:0042384 |
C |
From MGI |
||
| GO:0005932 |
microtubule basal body |
MGI:MGI:4360424 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005932 |
microtubule basal body |
MGI:MGI:4367647 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005932 |
microtubule basal body |
MGI:MGI:4437526 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005932 |
microtubule basal body |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0007169 |
transmembrane receptor protein tyrosine kinase signaling pathway |
MGI:MGI:4840150 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0007417 |
central nervous system development |
MGI:MGI:5306539 |
IGI: Inferred from Genetic Interaction |
P |
From MGI |
|||
| GO:0010842 |
retina layer formation |
MGI:MGI:5306539 |
IGI: Inferred from Genetic Interaction |
P |
From MGI |
|||
| GO:0016192 |
vesicle-mediated transport |
MGI:MGI:4360424 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0030030 |
cell projection organization |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0970 |
P |
From MGI |
||
| GO:0030054 |
cell junction |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0965 |
C |
From MGI |
||
| GO:0030862 |
positive regulation of polarized epithelial cell differentiation |
MGI:MGI:5306539 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0030902 |
hindbrain development |
MGI:MGI:5306539 |
IGI: Inferred from Genetic Interaction |
P |
From MGI |
|||
| GO:0031513 |
nonmotile primary cilium |
MGI:MGI:4360424 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0031513 |
nonmotile primary cilium |
MGI:MGI:4367647 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0033365 |
protein localization to organelle |
MGI:MGI:4360424 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0034613 |
cellular protein localization |
MGI:MGI:4437526 |
IGI: Inferred from Genetic Interaction |
P |
From MGI |
|||
| GO:0035844 |
cloaca development |
MGI:MGI:5306539 |
IGI: Inferred from Genetic Interaction |
P |
From MGI |
|||
| GO:0035845 |
photoreceptor cell outer segment organization |
MGI:MGI:4437526 |
IGI: Inferred from Genetic Interaction |
P |
From MGI |
|||
| GO:0036038 |
TCTN-B9D complex |
MGI:MGI:5300833 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0039008 |
pronephric nephron tubule morphogenesis |
MGI:MGI:5306539 |
IGI: Inferred from Genetic Interaction |
P |
From MGI |
|||
| GO:0042384 |
cilium assembly |
MGI:MGI:5306539 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0042995 |
cell projection |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0966 |
C |
From MGI |
||
| GO:0043066 |
negative regulation of apoptotic process |
MGI:MGI:4437526 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0045944 |
positive regulation of transcription from RNA polymerase II promoter |
MGI:MGI:4840150 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0050795 |
regulation of behavior |
MGI:MGI:4840150 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0060271 |
cilium morphogenesis |
MGI:MGI:4360424 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0065001 |
specification of axis polarity |
MGI:MGI:5306539 |
IGI: Inferred from Genetic Interaction |
P |
From MGI |
|||
| GO:0071599 |
otic vesicle development |
MGI:MGI:5306539 |
IGI: Inferred from Genetic Interaction |
P |
From MGI |
|||
| GO:0072372 |
primary cilium |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
| ||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 Simms RJ et al. (2012) Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development. Cell Mol Life Sci 69: 993-1009 PubMed GONUTS page
- ↑ 2.0 2.1 2.2 2.3 Xu X et al. (2010) Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype. Proc Natl Acad Sci U S A 107: 19126-31 PubMed GONUTS page
- ↑ Sang L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145: 513-28 PubMed GONUTS page
- ↑ 4.0 4.1 4.2 4.3 4.4 4.5 Hsiao YC et al. (2009) Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. Hum Mol Genet 18: 3926-41 PubMed GONUTS page
- ↑ 5.0 5.1 5.2 5.3 5.4 Louie CM et al. (2010) AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet 42: 175-80 PubMed GONUTS page
- ↑ 6.0 6.1 Lancaster MA et al. (2009) Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy. Nat Med 15: 1046-54 PubMed GONUTS page
- ↑ Chih B et al. (2011) A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol 14: 61-72 PubMed GONUTS page
