MOUSE:AHI1

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Ahi1
Protein Name(s)	Jouberin Abelson helper integration site 1 protein AHI-1
External Links
UniProt	Q8K3E5
EMBL	AY133241 BC055400 AK005991
CCDS	CCDS35860.1
RefSeq	XP_006512862.1
UniGene	Mm.253280 Mm.486431
ProteinModelPortal	Q8K3E5
SMR	Q8K3E5
IntAct	Q8K3E5
PhosphoSite	Q8K3E5
MaxQB	Q8K3E5
PaxDb	Q8K3E5
PRIDE	Q8K3E5
GeneID	52906
KEGG	mmu:52906
CTD	54806
MGI	MGI:87971
eggNOG	COG2319
HOGENOM	HOG000033864
HOVERGEN	HBG080824
InParanoid	Q8K3E5
KO	K16740
PhylomeDB	Q8K3E5
ChiTaRS	Ahi1
PRO	PR:Q8K3E5
Proteomes	UP000000589
CleanEx	MM_AHI1
Genevestigator	Q8K3E5
GO	GO:0005912 GO:0005911 GO:0005814 GO:0005813 GO:0036064 GO:0005929 GO:0031513 GO:0001750 GO:0072372 GO:0036038 GO:0034613 GO:0007417 GO:0042384 GO:0060271 GO:0035844 GO:0001947 GO:0030902 GO:0070121 GO:0070986 GO:0001738 GO:0043066 GO:0071599 GO:0035845 GO:0010628 GO:0030862 GO:0002092 GO:0045944 GO:0039023 GO:0039008 GO:0033365 GO:0050795 GO:0060041 GO:0010842 GO:0065001 GO:0007169 GO:0006903 GO:0016192
Gene3D	2.130.10.10
InterPro	IPR001452 IPR015943 IPR001680 IPR017986
Pfam	PF00018 PF00400
PRINTS	PR00452
SMART	SM00326 SM00320
SUPFAM	SSF50044 SSF50978
PROSITE	PS50002 PS50082 PS50294

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0005929	cilium	PMID:20081859^[1]	ECO:0000314			C		Figure 1 (e): Endogenous Ahi1 localization is shown in red to the base of photoreceptor connecting cillium (acetylated-tubulin: green) in Ahi1 +/- section and is absent in Ahi1 -/- Cillium.	complete CACAO 2495
	GO:0046548	retinal rod cell development	PMID:20081859^[1]	ECO:0000315			P		Supplementary figure 2 (a): Transmission electron microscopy showed complete absence of both rod and cone outer segments indicating Ahi1 role in rod and cone cell development. EM longitudinal views of representative Ahi1+/- control and multiple Ahi1-/- photoreceptor cilia demonstrate absence of outer segment disks. OS=outer segments, CC=connecting cilium (and indicated by black lines), brackets indicate OS in control and disorganized membranes in the Ahi1-/-, scale=1μm	complete CACAO 2496
	GO:0046549	retinal cone cell development	PMID:20081859^[1]	ECO:0000315			P		Supplementary figure 2 (a): Transmission electron microscopy showed complete absence of both rod and cone outer segments by P10, indicating a role for Ahi1 in rod and cone cell development.	complete CACAO 2497
	GO:0042462	eye photoreceptor cell development	PMID:20081859^[1]	ECO:0000314			P		Figure 5 (d): The photoreceptors of Nphp1- /-mice formed outer segments but underwent gradual retinal degeneration, which was slightly evident at 2 months. Figure shows Nphp1+/+ and Nphp1-/- retina at 8 wks stained for opsin and nuclei (Hoescht 33342). Scale=20μm	complete CACAO 2501
	GO:0050708	regulation of protein secretion	PMID:18636121^[2]	ECO:0000315			P		Using anti-Hap1 that recognizes endogenous Hap1 in PC12 cells of rat origin, we found that transfected Ahi1 increased the level of endogenous Hap1A and Hap1B in a dose-dependent manner (Figure 3, F and G).	complete CACAO 2782
	GO:0010976	positive regulation of neuron projection development	PMID:18636121^[2]	ECO:0000315			P		Expression of truncated Ahi1 with Hap1B inhibited neurite outgrowth of PC12 cells compared with cells coexpressing full-length Ahi1. To confirm this inhibitory effect, we transfected full-length or truncated Ahi1 alone into PC12 cells (Figure 4D). Counting of the transfected cells revealed that 55.3% ± 3.5% of full-length Ahi1 and 15% ± 2.1% (mean ± SEM;	complete CACAO 2783
	GO:0045927	positive regulation of growth	PMID:18936234^[3]	ECO:0000314			P		Figure 1 B Table I.	complete CACAO 2803
involved_in	GO:0045927	positive regulation of growth	PMID:18936234^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0042462	eye photoreceptor cell development	PMID:20081859^[1]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0010976	positive regulation of neuron projection development	PMID:18636121^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050708	regulation of protein secretion	PMID:18636121^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0046549	retinal cone cell development	PMID:20081859^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0046548	retinal rod cell development	PMID:20081859^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005929	cilium	PMID:20081859^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005929	cilium	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8N157	C		Seeded From UniProt	complete
involved_in	GO:0071599	otic vesicle development	PMID:21959375^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:F8W3V6	P		Seeded From UniProt	complete
involved_in	GO:0070986	left/right axis specification	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q07DM1	P		Seeded From UniProt	complete
involved_in	GO:0070121	Kupffer's vesicle development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q07DM1	P		Seeded From UniProt	complete
involved_in	GO:0065001	specification of axis polarity	PMID:21959375^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:F8W3V6	P		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:19625297^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050795	regulation of behavior	PMID:20956301^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:20956301^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	has_regulation_target:(UniProtKB:O35668)\|has_regulation_target:(UniProtKB:P15209)	Seeded From UniProt	complete
involved_in	GO:0043066	negative regulation of apoptotic process	PMID:20081859^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:21959375^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0039023	pronephric duct morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q07DM1	P		Seeded From UniProt	complete
involved_in	GO:0039008	pronephric nephron tubule morphogenesis	PMID:21959375^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:F8W3V6	P		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:20081859^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0001789)	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:19625297^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:19718039^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0036038	MKS complex	PMID:22179047^[8]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0035845	photoreceptor cell outer segment organization	PMID:20081859^[1]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:Q9QY53	P		Seeded From UniProt	complete
involved_in	GO:0035844	cloaca development	PMID:21959375^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:F8W3V6	P		Seeded From UniProt	complete
involved_in	GO:0034613	cellular protein localization	PMID:20081859^[1]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:Q9QY53	P	has_input:(UniProtKB:P15409)	Seeded From UniProt	complete
part_of	GO:0097730	non-motile cilium	PMID:19625297^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0097730	non-motile cilium	PMID:19718039^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0030902	hindbrain development	PMID:21959375^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:F8W3V6	P		Seeded From UniProt	complete
involved_in	GO:0030862	positive regulation of polarized epithelial cell differentiation	PMID:21959375^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0002518) occurs_in:(GO:0045177)	Seeded From UniProt	complete
involved_in	GO:0016192	vesicle-mediated transport	PMID:19625297^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0010842	retina layer formation	PMID:21959375^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:F8W3V6	P		Seeded From UniProt	complete
involved_in	GO:0007417	central nervous system development	PMID:21959375^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:F8W3V6	P		Seeded From UniProt	complete
involved_in	GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	PMID:20956301^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005929	cilium	PMID:20081859^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0001789)	Seeded From UniProt	complete
part_of	GO:0005929	cilium	PMID:21959375^[4]	ECO:0000305	curator inference used in manual assertion	GO:0060271	C		Seeded From UniProt	complete
part_of	GO:0005912	adherens junction	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8N157	C		Seeded From UniProt	complete
part_of	GO:0005911	cell-cell junction	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8N157	C		Seeded From UniProt	complete
part_of	GO:0005814	centriole	PMID:19625297^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000020)	Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8N157	C		Seeded From UniProt	complete
involved_in	GO:0002092	positive regulation of receptor internalization	PMID:20956301^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	has_regulation_target:(UniProtKB:P15209)	Seeded From UniProt	complete
involved_in	GO:0001947	heart looping	PMID:21959375^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:F8W3V6	P		Seeded From UniProt	complete
involved_in	GO:0001738	morphogenesis of a polarized epithelium	PMID:21959375^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0002518)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1905515	non-motile cilium assembly	PMID:19625297^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(EMAPA:28370)	Seeded From UniProt	complete
part_of	GO:0097730	non-motile cilium	PMID:19718039^[7]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:28370)	Seeded From UniProt	complete
part_of	GO:0097730	non-motile cilium	PMID:19625297^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:28370)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060271	cilium assembly	PMID:20592197^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4360696	P	occurs_in:(CL:0000210)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060041	retina development in camera-type eye	PMID:20592197^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4360696	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0046325	negative regulation of glucose import	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1303040	P		Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q8N157	F		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:19718039^[7]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:28370)	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:19625297^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:28370)	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q8N157	C		Seeded From UniProt	complete
part_of	GO:0036038	MKS complex	PMID:22179047^[8]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0035845	photoreceptor cell outer segment organization	PMID:20592197^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4360696	P	occurs_in:(CL:0000210)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0033365	protein localization to organelle	PMID:19625297^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0016192	vesicle-mediated transport	PMID:19625297^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(EMAPA:28370)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0010628	positive regulation of gene expression	PMID:20592197^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4360696	P	has_regulation_target:(MGI:MGI:97998)\|has_regulation_target:(MGI:MGI:95778)\|has_regulation_target:(MGI:MGI:96960)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0006903	vesicle targeting	PMID:20592197^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4360696	P	occurs_in:(CL:0000210)	Seeded From UniProt	complete
part_of	GO:0005929	cilium	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q8N157	C		Seeded From UniProt	complete
part_of	GO:0005912	adherens junction	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q8N157	C		Seeded From UniProt	complete
part_of	GO:0005911	cell-cell junction	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q8N157	C		Seeded From UniProt	complete
part_of	GO:0005814	centriole	PMID:19625297^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000020)\|part_of:(EMAPA:28370)	Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q8N157	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1303040	C		Seeded From UniProt	complete
part_of	GO:0001750	photoreceptor outer segment	PMID:20592197^[9]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000210)	Seeded From UniProt	complete
involved_in	GO:0030154	cell differentiation	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0221	P		Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C		Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0217	P		Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0206	C		Seeded From UniProt	complete
part_of	GO:0005929	cilium	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0969	C		Seeded From UniProt	complete
part_of	GO:0030054	cell junction	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0965	C		Seeded From UniProt	complete
involved_in	GO:0030030	cell projection organization	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0970	P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C		Seeded From UniProt	complete
part_of	GO:0005814	centriole	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0046	C		Seeded From UniProt	complete
part_of	GO:0005912	adherens junction	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0009	C		Seeded From UniProt	complete
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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 ^1.12 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
↑ ^2.0 ^2.1 ^2.2 ^2.3 Sheng, G et al. (2008) Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice. J. Clin. Invest. 118 2785-95 PubMed GONUTS page
↑ ^3.0 ^3.1 Zhou, LL et al. (2008) AHI-1 interacts with BCR-ABL and modulates BCR-ABL transforming activity and imatinib response of CML stem/progenitor cells. J. Exp. Med. 205 2657-71 PubMed GONUTS page
↑ ^4.00 ^4.01 ^4.02 ^4.03 ^4.04 ^4.05 ^4.06 ^4.07 ^4.08 ^4.09 ^4.10 ^4.11 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
↑ ^5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 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
↑ ^6.0 ^6.1 ^6.2 ^6.3 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
↑ ^7.0 ^7.1 ^7.2 ^7.3 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
↑ ^8.0 ^8.1 Chih, B et al. (2012) A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat. Cell Biol. 14 61-72 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 ^9.3 ^9.4 ^9.5 Westfall, JE et al. (2010) Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J. Neurosci. 30 8759-68 PubMed GONUTS page

[PMID:20081859-1] 1.00 ^1.01 ^1.02 ^1.03 ^1.04 ^1.05 ^1.06 ^1.07 ^1.08 ^1.09 ^1.10 ^1.11 ^1.12 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

[PMID:18636121-2] 2.0 ^2.1 ^2.2 ^2.3 Sheng, G et al. (2008) Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice. J. Clin. Invest. 118 2785-95 PubMed GONUTS page

[PMID:18936234-3] 3.0 ^3.1 Zhou, LL et al. (2008) AHI-1 interacts with BCR-ABL and modulates BCR-ABL transforming activity and imatinib response of CML stem/progenitor cells. J. Exp. Med. 205 2657-71 PubMed GONUTS page

[PMID:21959375-4] 4.00 ^4.01 ^4.02 ^4.03 ^4.04 ^4.05 ^4.06 ^4.07 ^4.08 ^4.09 ^4.10 ^4.11 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

[PMID:19625297-5] 5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 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

[PMID:20956301-6] 6.0 ^6.1 ^6.2 ^6.3 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

[PMID:19718039-7] 7.0 ^7.1 ^7.2 ^7.3 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

[PMID:22179047-8] 8.0 ^8.1 Chih, B et al. (2012) A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat. Cell Biol. 14 61-72 PubMed GONUTS page

[PMID:20592197-9] 9.0 ^9.1 ^9.2 ^9.3 ^9.4 ^9.5 Westfall, JE et al. (2010) Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J. Neurosci. 30 8759-68 PubMed GONUTS page

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MOUSE:AHI1

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