Protein transport protein Sec61 subunit alpha isoform 1
The SEC61A1 gene encodes a channel Protein of the endoplasmatic reticulum. Mutations cause autosomal dominant tubulointerstitial disease (ADTKD-SEC61A1), which is also characterized by congenital
anemia accompanied, either intrauterine growth retardation or neutropenia, and to a variable degree cleft palate or bifid uvula.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
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.
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2. |
Lloyd DJ et al. (2010) A point mutation in Sec61alpha1 leads to diabetes and hepatosteatosis in mice.
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3. |
Ruiz-Saenz A et al. (2015) Targeting HER3 by interfering with its Sec61-mediated cotranslational insertion into the endoplasmic reticulum.
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4. |
Haßdenteufel S et al. (2014) Protein transport into the human ER and related diseases, Sec61-channelopathies.
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5. |
Pfeffer S et al. (2016) Organization of the native ribosome-translocon complex at the mammalian endoplasmic reticulum membrane.
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6. |
Bolar NA et al. (2016) Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
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7. |
Schorr S et al. (2015) Co-chaperone Specificity in Gating of the Polypeptide Conducting Channel in the Membrane of the Human Endoplasmic Reticulum.
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8. |
Plumb R et al. (2015) A functional link between the co-translational protein translocation pathway and the UPR.
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9. |
Gogala M et al. (2014) Structures of the Sec61 complex engaged in nascent peptide translocation or membrane insertion.
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10. |
Becker T et al. (2009) Structure of monomeric yeast and mammalian Sec61 complexes interacting with the translating ribosome.
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11. |
Hessa T et al. (2007) Molecular code for transmembrane-helix recognition by the Sec61 translocon.
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12. |
Hessa T et al. (2005) Recognition of transmembrane helices by the endoplasmic reticulum translocon.
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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.
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14. |
Greenfield JJ et al. (1999) The Sec61 complex is located in both the ER and the ER-Golgi intermediate compartment.
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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.
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16. |
Wiertz EJ et al. (1996) Sec61-mediated transfer of a membrane protein from the endoplasmic reticulum to the proteasome for destruction.
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17. |
NCBI article
NCBI 29927
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18. |
OMIM.ORG article
Omim 609213
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19. |
Wikipedia article
Wikipedia EN (Sec61_alpha_1)
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Update: Aug. 14, 2020