General Information:

Id: 7,065
Diseases: Nephronophthisis
Senior-Loken syndrome 3 - [OMIM]
Mus musculus
article
Reference: [PMID: 21565611]

Interaction Information:

Comment NPHP1, NPHP4, and NPHP8 interact and localize to cell-cell contacts and the ciliary transition zone. NPHP4 directly binds both NPHP1 and NPHP8 in vitro and can bridge the interaction between NPHP1 and NPHP8, whereas NPHP1 and NPHP8 do not appear to bind directly.
Formal Description
Interaction-ID: 69475

gene/protein

NPHP1

is_part_of

complex/PPI

NPHP1-NPHP4-RPGRIP1L complex

Comment NPHP1, NPHP4, and NPHP8 interact and localize to cell-cell contacts and the ciliary transition zone. NPHP4 directly binds both NPHP1 and NPHP8 in vitro and can bridge the interaction between NPHP1 and NPHP8, whereas NPHP1 and NPHP8 do not appear to bind directly.
Formal Description
Interaction-ID: 69476

gene/protein

NPHP4

is_part_of

complex/PPI

NPHP1-NPHP4-RPGRIP1L complex

Comment NPHP1, NPHP4, and NPHP8 interact and localize to cell-cell contacts and the ciliary transition zone. NPHP4 directly binds both NPHP1 and NPHP8 in vitro and can bridge the interaction between NPHP1 and NPHP8, whereas NPHP1 and NPHP8 do not appear to bind directly.
Formal Description
Interaction-ID: 69477

gene/protein

RPGRIP1L

is_part_of

complex/PPI

NPHP1-NPHP4-RPGRIP1L complex

Comment NPHP1, NPHP4, and NPHP8 interact and localize to cell-cell contacts and the ciliary transition zone. NPHP4 directly binds both NPHP1 and NPHP8 in vitro and can bridge the interaction between NPHP1 and NPHP8, whereas NPHP1 and NPHP8 do not appear to bind directly.
Formal Description
Interaction-ID: 69478

complex/PPI

NPHP1-NPHP4-RPGRIP1L complex

is localized in

cellular component

ciliary transition zone

Comment NPHP1, NPHP4, and NPHP8 interact and localize to cell-cell contacts and the ciliary transition zone. NPHP4 directly binds both NPHP1 and NPHP8 in vitro and can bridge the interaction between NPHP1 and NPHP8, whereas NPHP1 and NPHP8 do not appear to bind directly.
Formal Description
Interaction-ID: 69479

complex/PPI

NPHP1-NPHP4-RPGRIP1L complex

is localized in

cellular component

cell-cell contact zone

Comment The study did validate that NPHP1 interacts with NPHP3 by coimmunoprecipitation.
Formal Description
Interaction-ID: 69481

gene/protein

NPHP1

interacts (colocalizes) with

gene/protein

NPHP3

Comment NPHP5 and NPHP6 form a complex and localize to the centrosome.
Formal Description
Interaction-ID: 69482

gene/protein

IQCB1

is_part_of

complex/PPI

CEP290-IQCB1 complex

Comment NPHP5 and NPHP6 form a complex and localize to the centrosome.
Formal Description
Interaction-ID: 69483

gene/protein

CEP290

is_part_of

complex/PPI

CEP290-IQCB1 complex

Comment NPHP5 and NPHP6 form a complex and localize to the centrosome.
Formal Description
Interaction-ID: 69484

complex/PPI

CEP290-IQCB1 complex

is localized in

cellular component

centrosome

Comment NPHP5 also interacts with other NPHP proteins. The authors observed copurification of NPHP5 with NPHP1-4-8 only in NIH 3T3 cells and with NPHP2 only in IMCD3 cells. These interactions were validated by co-IP in HEK293T cells but likely require additional proteins to bridge the interactions because NPHP5 does not bind directly to NPHP1, NPHP4, NPHP8, or NPHP2 in vitro.
Formal Description
Interaction-ID: 69485

gene/protein

IQCB1

interacts (colocalizes) with

complex/PPI

NPHP1-NPHP4-RPGRIP1L complex

in NIH 3T3 cells
Comment NPHP5 also interacts with other NPHP proteins. The authors observed copurification of NPHP5 with NPHP1-4-8 only in NIH 3T3 cells and with NPHP2 only in IMCD3 cells. These interactions were validated by co-IP in HEK293T cells but likely require additional proteins to bridge the interactions because NPHP5 does not bind directly to NPHP1, NPHP4, NPHP8, or NPHP2 in vitro.
Formal Description
Interaction-ID: 69486

gene/protein

IQCB1

interacts (colocalizes) with

gene/protein

INVS

in IMCD3 cells
Comment NPHP5 copurified with proteins previously linked to ciliogenesis. In all three cell lines, NPHP5 copurifies with Sec3; in IMCD3 cells, NPHP5 also copurified with Sec8 and Sec10. Sec3, Sec8, and Sec10 are components of the exocyst complex, a protein complex that is important in membrane trafficking and was shown to be required for ciliogenesis. NPHP5 at the basal body may help to recruit the exocyst to a membrane compartment at the cilia base.
Formal Description
Interaction-ID: 69487

gene/protein

IQCB1

interacts (colocalizes) with

gene/protein

EXOC1

Comment NPHP5 copurified with proteins previously linked to ciliogenesis. In all three cell lines, NPHP5 copurifies with Sec3; in IMCD3 cells, NPHP5 also copurified with Sec8 and Sec10. Sec3, Sec8, and Sec10 are components of the exocyst complex, a protein complex that is important in membrane trafficking and was shown to be required for ciliogenesis. NPHP5 at the basal body may help to recruit the exocyst to a membrane compartment at the cilia base.
Formal Description
Interaction-ID: 69488

gene/protein

IQCB1

interacts (colocalizes) with

gene/protein

EXOC4

in IMCD3 cells
Comment NPHP5 copurified with proteins previously linked to ciliogenesis. In all three cell lines, NPHP5 copurifies with Sec3; in IMCD3 cells, NPHP5 also copurified with Sec8 and Sec10. Sec3, Sec8, and Sec10 are components of the exocyst complex, a protein complex that is important in membrane trafficking and was shown to be required for ciliogenesis. NPHP5 at the basal body may help to recruit the exocyst to a membrane compartment at the cilia base.
Formal Description
Interaction-ID: 69489

gene/protein

IQCB1

interacts (colocalizes) with

gene/protein

EXOC5

in IMCD3 cells
Comment In IMCD3 cells, copurification of NPHP5 with Ataxin 10 was observed, a protein that is linked to Spinocerebellar Ataxia, a disease with distinctive deficiencies in cerebellar signaling and function. The authors validated the NPHP5-Ataxin10 interaction by co-IP, but this interaction does not appear to be direct based on in vitro binding.
Formal Description
Interaction-ID: 69490

gene/protein

IQCB1

interacts (colocalizes) with

gene/protein

ATXN10

in IMCD3 cells
Comment Mks1 binds to proteins that are important for neural tube closure, including Mks6 and tectonic.
Formal Description
Interaction-ID: 69492

gene/protein

MKS1

is_part_of

complex/PPI

MKS1-CC2D2A-TCTN2 complex

Comment Mks1 binds to proteins that are important for neural tube closure, including Mks6 and tectonic.
Formal Description
Interaction-ID: 69494

gene/protein

CC2D2A

is_part_of

complex/PPI

MKS1-CC2D2A-TCTN2 complex

Comment Mks1 binds to proteins that are important for neural tube closure, including Mks6 and tectonic.
Formal Description
Interaction-ID: 69495

gene/protein

TCTN2

is_part_of

complex/PPI

MKS1-CC2D2A-TCTN2 complex

Comment Depletion of centrosomal proteins Nphp5 and Nphp6, along with Mks1, led to ciliogenesis defects. In contrast, normal numbers of cilia were observed in cells depleted of Nphp1, Nphp4, Nphp8, Nphp2, Nphp3, or Ahi1.
Formal Description
Interaction-ID: 69496

gene/protein

IQCB1

increases_activity of

process

cilium assembly

Comment Depletion of centrosomal proteins Nphp5 and Nphp6, along with Mks1, led to ciliogenesis defects. In contrast, normal numbers of cilia were observed in cells depleted of Nphp1, Nphp4, Nphp8, Nphp2, Nphp3, or Ahi1.
Formal Description
Interaction-ID: 69497

gene/protein

CEP290

increases_activity of

process

cilium assembly

Comment Depletion of centrosomal proteins Nphp5 and Nphp6, along with Mks1, led to ciliogenesis defects. In contrast, normal numbers of cilia were observed in cells depleted of Nphp1, Nphp4, Nphp8, Nphp2, Nphp3, or Ahi1.
Formal Description
Interaction-ID: 69498

gene/protein

MKS1

increases_activity of

process

cilium assembly

Comment Depletion of centrosomal proteins Nphp5 and Nphp6, along with Mks1, led to ciliogenesis defects. In contrast, normal numbers of cilia were observed in cells depleted of Nphp1, Nphp4, Nphp8, Nphp2, Nphp3, or Ahi1.
Formal Description
Interaction-ID: 69499

gene/protein

NPHP1

NOT affects_activity of

process

cilium assembly

Comment Depletion of centrosomal proteins Nphp5 and Nphp6, along with Mks1, led to ciliogenesis defects. In contrast, normal numbers of cilia were observed in cells depleted of Nphp1, Nphp4, Nphp8, Nphp2, Nphp3, or Ahi1.
Formal Description
Interaction-ID: 69500

gene/protein

NPHP4

NOT affects_activity of

process

cilium assembly

Comment Depletion of centrosomal proteins Nphp5 and Nphp6, along with Mks1, led to ciliogenesis defects. In contrast, normal numbers of cilia were observed in cells depleted of Nphp1, Nphp4, Nphp8, Nphp2, Nphp3, or Ahi1.
Formal Description
Interaction-ID: 69502

gene/protein

RPGRIP1L

NOT affects_activity of

process

cilium assembly

Comment Depletion of centrosomal proteins Nphp5 and Nphp6, along with Mks1, led to ciliogenesis defects. In contrast, normal numbers of cilia were observed in cells depleted of Nphp1, Nphp4, Nphp8, Nphp2, Nphp3, or Ahi1.
Formal Description
Interaction-ID: 69503

gene/protein

INVS

NOT affects_activity of

process

cilium assembly

Comment Depletion of centrosomal proteins Nphp5 and Nphp6, along with Mks1, led to ciliogenesis defects. In contrast, normal numbers of cilia were observed in cells depleted of Nphp1, Nphp4, Nphp8, Nphp2, Nphp3, or Ahi1.
Formal Description
Interaction-ID: 69504

gene/protein

NPHP3

NOT affects_activity of

process

cilium assembly

Comment Depletion of centrosomal proteins Nphp5 and Nphp6, along with Mks1, led to ciliogenesis defects. In contrast, normal numbers of cilia were observed in cells depleted of Nphp1, Nphp4, Nphp8, Nphp2, Nphp3, or Ahi1.
Formal Description
Interaction-ID: 69505

gene/protein

AHI1

NOT affects_activity of

process

cilium assembly

Comment Tctn2 regulates Hh signaling and ciliogenesis.
Formal Description
Interaction-ID: 69506

gene/protein

TCTN2

decreases_activity of

process

cilium assembly

Comment Tctn2 regulates Hh signaling and ciliogenesis.
Formal Description
Interaction-ID: 69507

gene/protein

TCTN2

decreases_activity of