background:
The EF-hand domain is a twelve amino acid loop motif that is commonly found in proteins that participate in calcium-binding events within the cell. EF-hand domains generally exist in a pair that, together, form a stable four-helix bundle that enables the binding of calcium ions. EF-HA1 (EF-hand domain family, member A1) is a 434 amino acid protein that contains four EF-hand domains, suggesting a role in calcium-mediated events throughout the cell. The gene encoding EF-HA1 maps to human chromosome 13, which houses over 400 genes, such as BRCA2 and RB1, and comprises nearly 4% of the human genome. Trisomy 13, also known as Patau syndrome, is deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections.
Similarity:
Contains 4 EF-hand domains.
Database links:
Entrez Gene: 221154 Human
Entrez Gene: 68514 Mouse
Entrez Gene: 171433 Rat
Omim: 610632 Human
SwissProt: Q8IYU8 Human
SwissProt: Q8CD10 Mouse
SwissProt: Q99P63 Rat
Unigene: 412103 Human
Unigene: 26834 Mouse
Unigene: 64644 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|