FERM domains are roughly 150 amino acids in length and are found in a number of cytoskeletal-associated proteins such as Ezrin, Radixin, Moesin and 4.1 (erythrocyte membrane protein band 4.1), where they provide a link between cytoskeletal signals and membrane dynamics. FRMD6 (FERM domain containing 6), also known as EX1 or Willin, is a 622 amino acid cytoplasmic and peripheral membrane protein that can colocalize with Actin and exists as three alternatively spliced isoforms. Containing one FERM domain within its N-terminus, FRMD6 binds phospholipids and is encoded by a gene mapping to human chromosome 14, which houses over 700 genes and comprises nearly 3.5% of the human genome. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer's disease (AD).
Subcellular Location:
Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side.
Similarity:
Contains 1 FERM domain.
SWISS:
Q96NE9
Gene ID:
122786
Database links:
Entrez Gene: 122786 Human
Entrez Gene: 319710 Mouse
Entrez Gene: 257646 Rat
Omim: 614555 Human
SwissProt: Q96NE9 Human
SwissProt: Q8C0V9 Mouse
SwissProt: Q8VII0 Rat
Unigene: 434914 Human
Unigene: 2962 Mouse
Unigene: 1708 Rat
|
|