Sequence Detail

ID/Version

Q8K3E5 Q9CVY1 Q7TNV2 (UniProt | EBI)

Last sequence update: 2005-08-30
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Jouberin;AltName: Full=Abelson helper integration site 1 protein; Short=AHI-1;

Provider

SWISS-PROT

Sequence

Polypeptide 1047 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Ahi1	Abelson helper integration site 1	67	111	3	22

Sequence references in MGI

J:84771 Jiang X, et al., Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations. J Virol. 2002 Sep;76(18):9046-59
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:152919 Hsiao YC, et al., Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. Hum Mol Genet. 2009 Oct 15;18(20):3926-41
J:162721 Eley L, et al., Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int. 2008 Nov;74(9):1139-49
J:172420 Lancaster MA, et al., Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med. 2011 Jun;17(6):726-31
J:173396 Sang L, et al., Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011 May 13;145(4):513-28
J:178978 Chih B, et al., A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol. 2011;14(1):61-72
J:197136 Weng L, et al., Loss of Ahi1 Affects Early Development by Impairing BM88/Cend1-Mediated Neuronal Differentiation. J Neurosci. 2013 May 8;33(19):8172-8184
J:264617 Dharmat R, et al., SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. J Cell Biol. 2018 Aug 6;217(8):2851-2865
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89