General Information:

Id: 7,085
Diseases: Senior-Loken syndrome 9 - [OMIM]
Mus musculus
article
Reference: [PMID: 21945076]

Interaction Information:

Comment A Traf3ip1 mutant mouse line was generated. Traf3ip1 mutant cells are unable to form cilia. Homozygous Traf3ip1 mutant mice are not viable and have both neural developmental defects and polydactyly, phenotypes typical of mouse mutants with ciliary assembly defects.
Formal Description
Interaction-ID: 69602

gene/protein

TRAF3IP1

affects_activity of

process

cilium assembly

Comment In Traf3ip1 mutants the hedgehog pathway is disrupted, as evidenced by abnormal dorsal-ventral neural tube patterning and diminished expression of a hedgehog reporter.
Formal Description
Interaction-ID: 69721

gene/protein

TRAF3IP1

affects_activity of

Comment Analysis of the canonical Wnt pathway indicates that it was largely unaffected; however, specific domains in the pharyngeal arches have elevated levels of reporter activity. Interestingly, Traf3ip1 mutant embryos and cells failed to show alterations in IL-13 signaling, one of the pathways associated with its initial discovery.
Formal Description
Interaction-ID: 69722

gene/protein

TRAF3IP1

NOT affects_activity of

Comment Analysis of the canonical Wnt pathway indicates that it was largely unaffected; however, specific domains in the pharyngeal arches have elevated levels of reporter activity. Interestingly, Traf3ip1 mutant embryos and cells failed to show alterations in IL-13 signaling, one of the pathways associated with its initial discovery.
Formal Description
Interaction-ID: 69723

gene/protein

TRAF3IP1

NOT affects_activity of

Comment Novel phenotypes observed in Traf3ip1 mutant cells include elevated cytosolic levels of acetylated microtubules and a marked increase in cell size in culture. The enlarged Traf3ip1 mutant cell size was associated with elevated basal mTor pathway activity.
Formal Description
Interaction-ID: 69724

gene/protein

TRAF3IP1

affects_acetylation of

process

microtubule

Comment Novel phenotypes observed in Traf3ip1 mutant cells include elevated cytosolic levels of acetylated microtubules and a marked increase in cell size in culture. The enlarged Traf3ip1 mutant cell size was associated with elevated basal mTor pathway activity.
Formal Description
Interaction-ID: 69725

gene/protein

TRAF3IP1

affects_activity of

Comment Novel phenotypes observed in Traf3ip1 mutant cells include elevated cytosolic levels of acetylated microtubules and a marked increase in cell size in culture. The enlarged Traf3ip1 mutant cell size was associated with elevated basal mTor pathway activity.
Formal Description
Interaction-ID: 69726

gene/protein

TRAF3IP1

affects_activity of

process

TOR signaling