about
P688
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactionsImpaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyModelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentAHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisNeuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype.Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiationAHI-1 interacts with BCR-ABL and modulates BCR-ABL transforming activity and imatinib response of CML stem/progenitor cellsBrainstem Hap1-Ahi1 is involved in insulin-mediated feeding controlHuntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in miceRetinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle traffickingSPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium.
P921
Q24337384-D4646AC9-C0A3-4BAF-BC96-42A145EE40F3Q28506100-9E3B36F2-B97A-42E2-A229-03CD1414ED57Q28506685-AD66BAD9-2A52-484C-94D4-0C608EFD06A8Q28509528-418B22A5-5384-408A-8D29-A60DF430F31AQ28510053-96ED5273-76B7-4C84-AEF9-F62B932023D1Q28582663-79960A5D-3361-436E-99B7-2BF86EF9CC78Q28586026-D9F7DA76-2399-43CC-964D-5A1600AE0383Q28586309-A07385B8-A446-416E-8D8C-F4527E32B972Q28587677-3FEFB01B-F3FE-4215-B07A-1CBA010B66A6Q28588396-975F6EF5-7D92-4DAC-822B-D578865A16A4Q28588535-7F5D5202-C8D1-46F9-BD97-B42E1A25B192Q64961358-6BEBEB3B-3167-46CB-A69F-A9EF149009F9
P921
description
mouse protein (annotated by UniProtKB/Swiss-Prot Q8K3E5)
@en
proteinë
@sq
proteïne
@nl
بروتين في فأر المنازل
@ar
name
Jouberin
@en
type
label
Jouberin
@en
altLabel
AHI-1
@en
Abelson helper integration site 1 protein
@en
prefLabel
Jouberin
@en
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XP_006512862.1