Jouberin (Q21983459)

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mouse protein (annotated by UniProtKB/Swiss-Prot Q8K3E5)
  • Abelson helper integration site 1 protein
  • AHI-1
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Language Label Description Also known as
English
Jouberin
mouse protein (annotated by UniProtKB/Swiss-Prot Q8K3E5)
  • Abelson helper integration site 1 protein
  • AHI-1

Statements

instance of
protein
0 references
molecular function
protein binding
determination method
IPI
5 references
retrieved
14 February 2019
stated in
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
GOA
curator
UniProt
UniProt protein ID
Q8K3E5
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IPI
retrieved
14 February 2019
stated in
Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation
GOA
curator
UniProt
UniProt protein ID
Q8K3E5
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IPI
retrieved
14 February 2019
stated in
A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain
GOA
curator
Mouse Genome Informatics
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IPI
retrieved
14 February 2019
stated in
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions
GOA
curator
IntAct protein interaction database
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IPI
retrieved
14 February 2019
stated in
Brainstem Hap1-Ahi1 is involved in insulin-mediated feeding control
GOA
curator
IntAct protein interaction database
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IPI
cell component
ciliary basal body
determination method
IDA
ISO
6 references
retrieved
14 February 2019
stated in
GOA
curator
Mouse Genome Informatics
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
ISO
retrieved
14 February 2019
stated in
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
GOA
curator
UniProt
UniProt protein ID
Q8K3E5
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IDA
retrieved
14 February 2019
stated in
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy
GOA
curator
UniProt
UniProt protein ID
Q8K3E5
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IDA
retrieved
14 February 2019
stated in
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking
GOA
curator
UniProt
UniProt protein ID
Q8K3E5
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IDA
retrieved
14 February 2019
stated in
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy
GOA
curator
Mouse Genome Informatics
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IDA
retrieved
14 February 2019
stated in
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking
GOA
curator
Mouse Genome Informatics
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IDA
cilium
determination method
IC
IDA
IEA
ISO
ISS
6 references
retrieved
14 February 2019
stated in
GOA
curator
UniProt
UniProt protein ID
Q8K3E5
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
ISS
retrieved
14 February 2019
stated in
GOA
curator
Mouse Genome Informatics
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
ISO
retrieved
14 February 2019
stated in
GOA
curator
UniProt
UniProt protein ID
Q8K3E5
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IEA
retrieved
14 February 2019
stated in
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
GOA
curator
UniProt
UniProt protein ID
Q8K3E5
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IDA
retrieved
14 February 2019
stated in
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
GOA
curator
Community Assessment of Community Annotation with Ontologies
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IDA
retrieved
14 February 2019
stated in
Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development
GOA
curator
UniProt
UniProt protein ID
Q8K3E5
reference URL
http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8K3E5
determination method
IC
biological process

Identifiers

 
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