VPS25
Description
The VPS25 (vacuolar protein sorting 25 homolog) is a protein-coding gene located on chromosome 17.
VPS25 is a protein encoded by the VPS25 gene in humans. It is a key component of the ESCRT-II complex, which is vital for sorting ubiquitinated transmembrane receptors to lysosomes through multivesicular bodies (MVBs). ESCRT-II plays a role in recruiting the machinery responsible for protein sorting at MVBs. The human ESCRT-II complex has been shown to interact with RNA polymerase II elongation factor ELL, suggesting a role in transcriptional control. ESCRT-II interacts transiently with the endosomal membrane, initiating the formation of the ESCRT-III complex, which functions immediately downstream of ESCRT-II during MVB cargo sorting. ESCRT-II functions downstream of ESCRT-I, which binds to ubiquitinated endosomal cargo. ESCRT-II is a trilobal complex composed of two copies of VPS25, one copy of VPS22, and the C-terminal region of VPS36. The crystal structure of VPS25 revealed two winged-helix domains, with the N-terminal domain interacting with VPS22 and VPS36.
VPS25 is a component of the ESCRT-II complex, which is essential for the formation of multivesicular bodies (MVBs) and the sorting of endosomal cargo proteins into these vesicles. MVBs are crucial for the delivery of transmembrane proteins to the lysosome for degradation. The ESCRT-II complex likely recruits the ESCRT-III complex, another essential component of the MVB pathway. VPS25 may also play a role in transcriptional regulation through its interaction with the ELL protein. Furthermore, it has been suggested that the ESCRT-II complex may be involved in the budding of some RNA viruses.
VPS25 is also known as DERP9, EAP20, FAP20.
Associated Diseases
- syndactyly type 4
- mesomelic dwarfism-cleft palate-camptodactyly syndrome
- polydactyly of a triphalangeal thumb
- synpolydactyly type 1
- syndactyly-polydactyly-ear lobe syndrome
- polydactyly, postaxial, type A1
- Jawad syndrome
- autosomal recessive omodysplasia
- acromesomelic dysplasia 2B
- polysyndactyly 4
- laurin-Sandrow syndrome
- spondyloepimetaphyseal dysplasia, aggrecan type
- Richieri Costa-Pereira syndrome
- chondrodysplasia punctata, tibial-metacarpal type