Table 1.
List of Pfam domains affected by germline and somatic mutations in the DDR family.
| Pfam ID | Description | Cellular functions of domain |
|---|---|---|
| PF05192 | MutS_III | DNA mismatch repair and recombination |
| PF05190 | MutS domain IV | Involved in mismatch repair |
| PF00488 | MutS domain V | Involved in mismatch repair and DNA binding |
| PF00634 | BRCA2 repeat | Involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double strand breaks. Breast cancer susceptibility protein |
| PF09169 | BRCA-2_helical | Binds DSS1 protein |
| PF09103 | BRCA-2_OB1 (BRCA2 oligonucleotide/oligosaccharide-binding domain 1) | Binds DSS1 protein |
| PF09121 | Tower domain | Essential for appropriate binding of BRCA2 to DNA. Has an important role in the tumour suppressor function of BRCA2 |
| PF09104 | BRCA-2_OB3 (BRCA2, oligonucleotide/oligosaccharide-binding domain 3) | Binds DSS1 protein |
| PF10409 | PTEN-C2 | Plays a central role in membrane binding, productively positions the catalytic part of the protein onto the membrane |
| PF00870 | P53 | DNA-binding domain |
| PF07710 | P53 tetramer | |
| PF00097 | zf-C3HC4 (Zinc finger RING type) | Zinc fingers bind DNA, RNA, protein and/or lipid substrates. RING fingers play a key role in the ubiquitination pathway |
| PF12820 | BRCT_assoc (serine-rich associated with BRCT) | No specified function |
| PF00533 | BRCT (BRCA1 C-terminus) | Involved in cell cycle checkpoint functions responsive to DNA damage. A marker of breast cancer susceptibility |
| PF11640 | TAN (Telomere-length maintenance and DNA damage repair) | Regulates responses to DNA double-strand breaks (EC:2.7.11.1) |
| PF02259 | FAT (A novel domain in PIK-related proteins; i.e. FRAP, ATM, and TRRAP) | Still need to be elucidated experimentally. Usually involved in protein–protein interactions |
| PF00454 | PI3_PI4_kinase (Phosphatidylinositol 3- and 4-kinase) | Involved in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking, which in turn are involved in cancer |
| PF02260 | FATC (A novel motif at the extreme C-terminus of PIK-related proteins) | Still need to be elucidated experimentally. Usually involved in protein–protein interactions |
| PF00730 | HhH-GPD (HHH-GPD superfamily base excision DNA repair protein) | Involved in DNA repair functions (i.e. endonuclease III, DNA glycosylase, and methyl-CPG binding protein) |
| PF00633 | HHH (Helix-hairpin-helix motif) | DNA-binding domain |
| PF14815 | NUDIX_4 (NUDIX domain) | A/G‐specific adenine glycosylases. Involved in DNA base‐pair mismatch repair |