PEF1


Description

The PEF1 (penta-EF-hand domain containing 1) is a protein-coding gene located on chromosome 1.

PEF1 encodes Peflin, a calcium-binding protein belonging to the penta-EF hand (PEF) protein family. This family includes CAPNS1 (calpain small subunit), sorcin (SRI), grancalcin (GCA), and ALG2 (PDCD6). PEF1 interacts with PDCD6.

PEF1 is a calcium-binding protein that acts as an adapter to bridge unrelated proteins or stabilize weak protein-protein interactions in response to calcium. PEF1 forms a heterodimer with PDCD6, acting as a calcium-dependent adapter for the BCR(KLHL12) complex, which regulates endoplasmic reticulum (ER)-Golgi transport by controlling COPII coat size. Upon cytosolic calcium increase, the PEF1-PDCD6 heterodimer interacts with and bridges the BCR(KLHL12) complex and SEC31, promoting monoubiquitination of SEC31 and subsequent collagen export, essential for neural crest specification. The precise role of PEF1 within the heterodimer remains unclear. Some evidence suggests PEF1 collaborates with PDCD6 to promote the association of PDCD6 and SEC31 in the presence of calcium. Conversely, other reports indicate that PEF1 dissociates from PDCD6 in the presence of calcium, potentially acting as a negative regulator of PDCD6. PEF1 may also serve as a negative regulator of ER-Golgi transport, possibly by inhibiting the interaction between PDCD6 and SEC31.

PEF1 is also known as ABP32, PEF1A.

Associated Diseases



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