General Information:

Id: 7,069
Diseases: Bardet-Biedl syndrome
Joubert syndrome
Meckel syndrome
Mus musculus
article
Reference: [PMID: 22179047]

Interaction Information:

Comment B9D1 was identified as a gene that was localized at the base of the cilia and its knockdown produced significant inhibition of Shh signalling without obvious effects on cilia integrity.
Formal Description
Interaction-ID: 69519

gene/protein

B9D1

affects_activity of

Comment Nine proteins, B9D2, Tectonic 1 (TCTN1), TCTN2, MKS1, AHI1, CC2D2A and three that were previously uncharacterized (TMEM231, TMEM17 and KCTD10), were found reproducibly associated with B9D1 and with highly significant representation in multiple experiments.
Formal Description
Interaction-ID: 69539

gene/protein

B9D2

is_part_of

complex/PPI

B9 complex

Comment Nine proteins, B9D2, Tectonic 1 (TCTN1), TCTN2, MKS1, AHI1, CC2D2A and three that were previously uncharacterized (TMEM231, TMEM17 and KCTD10), were found reproducibly associated with B9D1 and with highly significant representation in multiple experiments.
Formal Description
Interaction-ID: 69540

gene/protein

TCTN1

is_part_of

complex/PPI

B9 complex

Comment Nine proteins, B9D2, Tectonic 1 (TCTN1), TCTN2, MKS1, AHI1, CC2D2A and three that were previously uncharacterized (TMEM231, TMEM17 and KCTD10), were found reproducibly associated with B9D1 and with highly significant representation in multiple experiments.
Formal Description
Interaction-ID: 69541

gene/protein

TCTN2

is_part_of

complex/PPI

B9 complex

Comment Nine proteins, B9D2, Tectonic 1 (TCTN1), TCTN2, MKS1, AHI1, CC2D2A and three that were previously uncharacterized (TMEM231, TMEM17 and KCTD10), were found reproducibly associated with B9D1 and with highly significant representation in multiple experiments.
Formal Description
Interaction-ID: 69542

gene/protein

MKS1

is_part_of

complex/PPI

B9 complex

Comment Nine proteins, B9D2, Tectonic 1 (TCTN1), TCTN2, MKS1, AHI1, CC2D2A and three that were previously uncharacterized (TMEM231, TMEM17 and KCTD10), were found reproducibly associated with B9D1 and with highly significant representation in multiple experiments.
Formal Description
Interaction-ID: 69543

gene/protein

AHI1

is_part_of

complex/PPI

B9 complex

Comment Nine proteins, B9D2, Tectonic 1 (TCTN1), TCTN2, MKS1, AHI1, CC2D2A and three that were previously uncharacterized (TMEM231, TMEM17 and KCTD10), were found reproducibly associated with B9D1 and with highly significant representation in multiple experiments.
Formal Description
Interaction-ID: 69544

gene/protein

CC2D2A

is_part_of

complex/PPI

B9 complex

Comment Nine proteins, B9D2, Tectonic 1 (TCTN1), TCTN2, MKS1, AHI1, CC2D2A and three that were previously uncharacterized (TMEM231, TMEM17 and KCTD10), were found reproducibly associated with B9D1 and with highly significant representation in multiple experiments.
Formal Description
Interaction-ID: 69545

gene/protein

TMEM231

is_part_of

complex/PPI

B9 complex

Comment Nine proteins, B9D2, Tectonic 1 (TCTN1), TCTN2, MKS1, AHI1, CC2D2A and three that were previously uncharacterized (TMEM231, TMEM17 and KCTD10), were found reproducibly associated with B9D1 and with highly significant representation in multiple experiments.
Formal Description
Interaction-ID: 69546

gene/protein

TMEM17

is_part_of

complex/PPI

B9 complex

Comment Nine proteins, B9D2, Tectonic 1 (TCTN1), TCTN2, MKS1, AHI1, CC2D2A and three that were previously uncharacterized (TMEM231, TMEM17 and KCTD10), were found reproducibly associated with B9D1 and with highly significant representation in multiple experiments.
Formal Description
Interaction-ID: 69547

gene/protein

KCTD10

is_part_of

complex/PPI

B9 complex

Comment The study describes a protein complex containing both cytoplasmic and transmembrane proteins that is localized to the transition zone of cilia. This complex contains all three B9 domain proteins encoded in the human genome, leading the authors to designate it the B9 complex. In addition, seven members of this complex are mutated in ciliopathies, demonstrating the fundamental importance of this complex and the importance of the transition zone.
Formal Description
Interaction-ID: 69549

complex/PPI

B9 complex

is localized in

cellular component

ciliary transition zone

Comment The presence of two apparent transmembrane proteins, TMEM231 and TMEM17, in the complex indicates that the complex is anchored to a membrane. Supporting this hypothesis, western blot analysis of the membrane fraction from IMCD3 cells and murine embryonic fibroblasts (MEFs) showed that TMEM231 and TMEM17 are indeed localized to the membrane.
Formal Description
Interaction-ID: 69554

gene/protein

TMEM231

is localized in

cellular component

membrane

Comment The presence of two apparent transmembrane proteins, TMEM231 and TMEM17, in the complex indicates that the complex is anchored to a membrane. Supporting this hypothesis, western blot analysis of the membrane fraction from IMCD3 cells and murine embryonic fibroblasts (MEFs) showed that TMEM231 and TMEM17 are indeed localized to the membrane.
Formal Description
Interaction-ID: 69555

gene/protein

TMEM17

is localized in

cellular component

membrane

Comment Disruption of the B9 complex with siRNAs against either B9D1, TMEM231, TMEM17 or CC2D2A led to a significant reduction in the amount of SSTR3 localized to cilia, without significantly reducing the percentage of cilia in hippocampal neurons. These data indicate that the B9 complex is required for receptor localization to the cilia membrane.
Formal Description
Interaction-ID: 69556

complex/PPI

B9 complex

affects transport of

gene/protein

SSTR3

into the cilium
Comment Sept2 regulates the B9 complex assembly at the transition zone by localizing TMEM231 and that B9D1 and TMEM231 function downstream of Sept2 in the generation of the ciliary diffusion barrier.
Formal Description
Interaction-ID: 69557

gene/protein

SEPTIN2

affects_activity of

complex/PPI

B9 complex

Comment The B9 complex is required for Shh signalling in vivo.
Formal Description
Interaction-ID: 69558

complex/PPI

B9 complex

affects_activity of

Comment The B9 complex regulates ciliogenesis.
Formal Description
Interaction-ID: 69559

complex/PPI

B9 complex

affects_activity of

process

cilium assembly