General Information:

Id: 7,202
Diseases: Joubert syndrome 1 - [OMIM]
Mus musculus
article
Reference: [PMID: 27998989]

Interaction Information:

Comment Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly. Inpp5e-/- embryos exhibit aberrant Hedgehog-dependent patterning with reduced Hedgehog signaling.
Formal Description
Interaction-ID: 70910

gene/protein

INPP5E

affects_activity of

Comment INPP5E regulates phosphoinositide-dependent cilia transition zone function.
Formal Description
Interaction-ID: 70989

gene/protein

INPP5E

affects_activity of

cellular component

ciliary transition zone

Comment Cilia accumulation and cilia tip localization of the Hh signal transducers SMO and GLI2, respectively, are reduced in response to Hh pathway activation with Inpp5e deletion.
Formal Description
Interaction-ID: 70990

gene/protein

INPP5E

affects_activity of

gene/protein

SMO

Drugbank entries Show/Hide entries for SMO
Comment Cilia accumulation and cilia tip localization of the Hh signal transducers SMO and GLI2, respectively, are reduced in response to Hh pathway activation with Inpp5e deletion.
Formal Description
Interaction-ID: 70991

gene/protein

INPP5E

affects_activity of

gene/protein

GLI2

Comment INPP5E regulates phosphoinositide signals at the cilia transition zone.
Formal Description
Interaction-ID: 70992

gene/protein

INPP5E

affects_activity of

at the ciliary transition zone
Comment Endogenous MKS1 (and recombinant Emerald-MKS1), TCTN1, TMEM231, and B9D1 localized to the TZ at steady state in Inpp5e+/+ and Inpp5e -/- pMEFs and in SAG-treated Inpp5e+/+ pMEFs but showed reduced or absent TZ localization in SAG-treated Inpp5e-/- pMEFs, consistent with the contention that Inpp5e ablation impairs the TZ localization of scaffolding proteins after Hh pathway activation.
Formal Description
Interaction-ID: 70993

gene/protein

INPP5E

affects_activity of

Comment Endogenous MKS1 (and recombinant Emerald-MKS1), TCTN1, TMEM231, and B9D1 localized to the TZ at steady state in Inpp5e+/+ and Inpp5e -/- pMEFs and in SAG-treated Inpp5e+/+ pMEFs but showed reduced or absent TZ localization in SAG-treated Inpp5e-/- pMEFs, consistent with the contention that Inpp5e ablation impairs the TZ localization of scaffolding proteins after Hh pathway activation.
Formal Description
Interaction-ID: 70994

gene/protein

MKS1

is localized in

cellular component

ciliary transition zone

Comment Endogenous MKS1 (and recombinant Emerald-MKS1), TCTN1, TMEM231, and B9D1 localized to the TZ at steady state in Inpp5e+/+ and Inpp5e -/- pMEFs and in SAG-treated Inpp5e+/+ pMEFs but showed reduced or absent TZ localization in SAG-treated Inpp5e-/- pMEFs, consistent with the contention that Inpp5e ablation impairs the TZ localization of scaffolding proteins after Hh pathway activation.
Formal Description
Interaction-ID: 70995

gene/protein

TCTN1

is localized in

cellular component

ciliary transition zone

Comment Endogenous MKS1 (and recombinant Emerald-MKS1), TCTN1, TMEM231, and B9D1 localized to the TZ at steady state in Inpp5e+/+ and Inpp5e -/- pMEFs and in SAG-treated Inpp5e+/+ pMEFs but showed reduced or absent TZ localization in SAG-treated Inpp5e-/- pMEFs, consistent with the contention that Inpp5e ablation impairs the TZ localization of scaffolding proteins after Hh pathway activation.
Formal Description
Interaction-ID: 70996

gene/protein

TMEM231

is localized in

cellular component

ciliary transition zone

Comment Endogenous MKS1 (and recombinant Emerald-MKS1), TCTN1, TMEM231, and B9D1 localized to the TZ at steady state in Inpp5e+/+ and Inpp5e -/- pMEFs and in SAG-treated Inpp5e+/+ pMEFs but showed reduced or absent TZ localization in SAG-treated Inpp5e-/- pMEFs, consistent with the contention that Inpp5e ablation impairs the TZ localization of scaffolding proteins after Hh pathway activation.
Formal Description
Interaction-ID: 70997

gene/protein

B9D1

is localized in

cellular component

ciliary transition zone