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used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum.
These data confirm that the exocyst is preferentially involved in basolateral protein translation and translocation, and may well act through the phosphorylation of Sec61beta.
Sec61beta overexpression increased tight junction modulation rates, in conjunction with enhanced delivery of claudin-4 from and to plasma membranes.
Sec61beta-KD cells also exhibited altered ATP7A cellular distribution.
SEC61beta and its autoantibody as biomarkers for colorectal cancer
Sec61beta function provides an alternative pathway for nuclear transport that can be utilized by membrane-embedded proteins such as full-length EGFR.
This indicates that EGF receptors are trafficked from the endoplasmic reticulum to the nucleus by a novel pathway that involves the Sec61 translocon.
The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript.
Sec61 complex, beta subunit
, protein translocation complex beta
, protein transport protein SEC61 beta subunit
, protein transport protein Sec61 subunit beta
, protein translocation complex beta subunit