tudor domain-containing protein 7; PCTAIRE2-binding protein; tudor repeat associator with PCTAIRE 2; trap (TDRD7, PCTAIRE2BP)

Function

• component of specific cytoplasmic RNA granules involved in post-transcriptional regulation of specific genes
• probably acts by binding to specific mRNAs & regulating their translation.
• required for lens transparency during lens development, by regulating translation of genes such as CRYBB3 & HSPB1 in the developing lens
• also required during spermatogenesis
• found in a mRNP complex, composed of at least TDRD1, TDRD6, TDRD7 & DDX4
• found in a complex containing CABLES1, CDK16 & CDK17
• interacts with CABLES1, CDK17 & PIWIL1

Structure

• belongs to the TDRD7 family
• contains 3 HTH OST-type domains
• contains 2 Tudor domains

Compartment

• cytoplasm
• localizes to cytoplasmic RNA granules
• present in chromatoid body of spermatids
• detected in the intermitochondrial cementin in pachytene spermatocytes

Alternative splicing

named isoforms=3

Pathology

• defects in TDRD7 are the cause of cataract congenital autosomal recessive type 4

More general terms

• tudor domain-containing protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=23424
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:23424
• OMIM: https://mirror.omim.org/entry/611258
• OMIM: https://mirror.omim.org/entry/613887
• UniProt: http://www.uniprot.org/uniprot/Q8NHU6.html