InterPro domain: IPR008010
General Information
- Identifier IPR008010
- Description Tapt1 family
- Number of genes 174
- Gene duplication stats Loading...
Abstract
This family of membrane proteins is conserved in eukaryotes. It includes Tapt1 (transmembrane anterior posterior transformation 1) and homologues. Analysis of mouse Tapt1 has shown it to be involved in patterning of the vertebrate axial skeleton [ 1 ]. Its cellular function is not known, but defective Tapt1 disrupts Golgi morphology and trafficking, and normal primary cilium formation [ 2 ].
The homologues in yeast, endoplasmic reticulum membrane protein 65, and Arabidopsis, POD1, seem to be involved in protein folding in the endoplasmic reticulum [ 3 , 4 ].
1. Mutation of a ubiquitously expressed mouse transmembrane protein (Tapt1) causes specific skeletal homeotic transformations. Genetics 175, 699-707
2. Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. Am. J. Hum. Genet. 97, 521-34
3. Comprehensive characterization of genes required for protein folding in the endoplasmic reticulum. Science 323, 1693-7
4. POD1 regulates pollen tube guidance in response to micropylar female signaling and acts in early embryo patterning in Arabidopsis. Plant Cell 23, 3288-302