# Mapping the CPLANE interactome, an extensive protein interaction network underlying human ciliopathies

> **NIH NIH R01** · UNIVERSITY OF TEXAS AT AUSTIN · 2020 · $509,504

## Abstract

ABSTRACT
Cilia are essential organelles, with functions ranging from cell-cell signaling to the generation of homeostatic
fluid flow in tubular organs. Consequently, an array of human congenital diseases has been characterized as
“ciliopathies,” because they share an etiology of defective cilia structure or function. Despite manifest roles in
the disruption of the central nervous system, limbs, axial skeleton, kidneys, airway, brain, and reproductive
tracts, our understanding of the mechanisms that govern ciliogenesis and cilia-mediated developmental
patterning remain incomplete. We propose here to study the roles of a novel multi-protein complex that
controls three crucial mechanisms: basal body docking, IntraFlagellar Transport (IFT) recruitment, and Planar
Cell Polarity (PCP). We will do so using a combination of proteomics, in vivo cell biology, mouse genetics and
human disease modeling. By focusing on proteins with demonstrated importance in development and disease,
but for which no mechanism of action is yet known, experiments proposed here will provide important new
breadth and depth to our understanding cilia-mediated developmental patterning, basal body docking, and
novel cell biological processes in ciliary biology. In turn, these findings should provide greater insight to a range
of congenital diseases including both the relatively mild Oral-Facial-Digital syndrome and the wholly lethal
Short Rib Polydactyly.

## Key facts

- **NIH application ID:** 9962434
- **Project number:** 5R01HD085901-05
- **Recipient organization:** UNIVERSITY OF TEXAS AT AUSTIN
- **Principal Investigator:** EDWARD M MARCOTTE
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $509,504
- **Award type:** 5
- **Project period:** 2016-09-05 → 2021-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9962434

## Citation

> US National Institutes of Health, RePORTER application 9962434, Mapping the CPLANE interactome, an extensive protein interaction network underlying human ciliopathies (5R01HD085901-05). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9962434. Licensed CC0.

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