Proteintransporter Sec61 Untereinheit alpha Isoform 1
Das SEC61A1-Gen kodiert ein Gen des endoplasmatischen Retikulums, welches für die Prozession sezernierter Proteine verantwortlich ist. Mutationen können eine autosomal dominante tubulointerstitielle Nierenerkrankung auslösen (ADTKD-SEC61A1). Neben der tubulointerstitiellen Nierenschädigung ist die Erkrankung durch eine kongenitale Anämie und entweder eine intrauterine Wachstumsverzögerung oder eine Neutropenie gekennzeichnet. In variablem Maße findet sich eine Kiefer-Gaumenspalte oder Uvula bifida.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Chen Y et al. (1998) Calnexin and other factors that alter translocation affect the rapid binding of ubiquitin to apoB in the Sec61 complex.
|
2. |
Lloyd DJ et al. (2010) A point mutation in Sec61alpha1 leads to diabetes and hepatosteatosis in mice.
|
3. |
Ruiz-Saenz A et al. (2015) Targeting HER3 by interfering with its Sec61-mediated cotranslational insertion into the endoplasmic reticulum.
|
4. |
Haßdenteufel S et al. (2014) Protein transport into the human ER and related diseases, Sec61-channelopathies.
|
5. |
Pfeffer S et al. (2016) Organization of the native ribosome-translocon complex at the mammalian endoplasmic reticulum membrane.
|
6. |
Bolar NA et al. (2016) Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
|
7. |
Schorr S et al. (2015) Co-chaperone Specificity in Gating of the Polypeptide Conducting Channel in the Membrane of the Human Endoplasmic Reticulum.
|
8. |
Plumb R et al. (2015) A functional link between the co-translational protein translocation pathway and the UPR.
|
9. |
Gogala M et al. (2014) Structures of the Sec61 complex engaged in nascent peptide translocation or membrane insertion.
|
10. |
Becker T et al. (2009) Structure of monomeric yeast and mammalian Sec61 complexes interacting with the translating ribosome.
|
11. |
Hessa T et al. (2007) Molecular code for transmembrane-helix recognition by the Sec61 translocon.
|
12. |
Hessa T et al. (2005) Recognition of transmembrane helices by the endoplasmic reticulum translocon.
|
13. |
Petaja-Repo UE et al. (2001) Newly synthesized human delta opioid receptors retained in the endoplasmic reticulum are retrotranslocated to the cytosol, deglycosylated, ubiquitinated, and degraded by the proteasome.
|
14. |
Greenfield JJ et al. (1999) The Sec61 complex is located in both the ER and the ER-Golgi intermediate compartment.
|
15. |
Bebök Z et al. (1998) The mechanism underlying cystic fibrosis transmembrane conductance regulator transport from the endoplasmic reticulum to the proteasome includes Sec61beta and a cytosolic, deglycosylated intermediary.
|
16. |
Wiertz EJ et al. (1996) Sec61-mediated transfer of a membrane protein from the endoplasmic reticulum to the proteasome for destruction.
|
17. |
NCBI article
NCBI 29927
|
18. |
OMIM.ORG article
Omim 609213
|
Update: 14. August 2020