Table 3 Top 20 Pfam domains that are often inserted or deleted among protein isoforms*.
Pfam Domain | No. of genes$ | Pfam Description of the domain | Associated GO terms | Keywords associated with the domain |
|---|---|---|---|---|
zf-C2H2 | 104 (75%) | Zinc finger, C2H2 type | Zinc ion binding | Nucleic Acid binding |
61 (48%) | ||||
PH | 59 (62%) | pleckstrin homology | Intracellular signaling/constituent of cytoskeleton | |
22 (44%) | ||||
Ank | 54 (80%) | Ankyrin repeat | Protein-protein interaction | |
25 (34%) | ||||
ig | 51 (82%) | Immunoglobulin family | Domains for cell surface recognition. | |
Not seen in asd | ||||
fn3 | 46 (77%) | Fibronectin type III domain | Multi-domain glycoproteins. | |
6 (28%) | ||||
SPRY | 46 (77%) | SPIa and the Ryanodine receptor | ||
3 (75%) | ||||
Collagen | 45 (88%) | Collagen triple helix repeat | Phosphate transport | Extracellular structural proteins |
8 (66%) | ||||
zf-C3HC4 | 44 (61%) | Zinc finger, C3HC4 type (RING finger) | Protein binding, zinc ion binding | Key role in ubiquitination pathway. |
7 (50%) | ||||
Pkinase | 44 (29%) | Protein kinase domain | ATP binding, protein kinase activity, protein amino acid phosphorylation | |
1 (2%) | ||||
PDZ | 43 (66%) | PDZ domain | Protein binding | Signaling |
18 (42%) | ||||
KRAB | 42 (46%) | Kruppel-associated box present in proteins containg C2H2 fingers. | Nucleic acid binding, intracellular, DNA-dependent regulation of transcription | Protein-protein interactions |
34 (49%) | ||||
C1-set | 41 (37%) | Immunoglobulin C1-set domain | Cell-cell recognition, cell-surface receptors, muscle structure, immune system. | |
1 (50%) | ||||
WD40 | 40 (83)% | WD or beta-transducin repeats | Signal transduction, transcription regulation, cell cycle control, apoptosis. | |
35 (38%) | ||||
EGF | 40 (83%) | Epidermal growth factor – like domain | Found in extracellular domain. | |
5 (18%) | ||||
SH3_1 | 40 (51%) | Src homology 3 | Signal transduction | |
4 (8%) | related to cytoskeletal organisation. | |||
Sushi | 39 (97%) | Complement control protein (CCP) modules, or short consensus repeats (SCR). | Complement and adhesion | |
17 (73%) | ||||
Helicase_C | 32 (62%) | Helicase conserved C-terminal domain | Nucleic acid binding | Helicase |
12 (44%) | ||||
I-set | 32 (66%) | Immunoglobulin I-set domain | Cell-cell recognition, cell-surface receptors, muscle structure, immune system | |
Not present in ASD | ||||
RRM_1 | 31 (72%) | RNA recognition motif | Nucleic Acid binding | RNA binding |
21 (46%) | ||||
C2 | 27 (61%) | Ca2+-dependent membrane-targeting module | Signal transduction/membrane trafficking | |
16 (53%) | ||||
LIM | 19 (82%) | LIM domain (Binding protein) | Zinc ion binding | Interface for protein-protein interaction |
20 (74%) | ||||
Mito_carr | 21 (91%) | Mitochondrial carrier | Transport, binding, membrane | |
19 (86%) | ||||
CH | 16 (53%) | Calponin homology domain | Cytoskeletal/signal transduction | |
12 (66%) | ||||
Hormone_receptor | 9 (32%) | Ligand-binding domain of nuclear hormone receptor | Transcription factor; regulation of transcription | Hormone binding |
12 (60%) | ||||
Trypsin | 20 (41%) | Trypsin | Proteolysis | Proteolytic enzyme |
11 (30%) |