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68 results

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SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.
Wang MJ, Wang YC, Masson E, Wang YH, Yu D, Qian YY, Tang XY, Deng SJ, Hu LH, Wang L, Wang LJ, Rebours V, Cooper DN, Férec C, Li ZS, Chen JM, Zou WB, Liao Z. Wang MJ, et al. Adv Sci (Weinh). 2024 Oct;11(38):e2402550. doi: 10.1002/advs.202402550. Epub 2024 Aug 9. Adv Sci (Weinh). 2024. PMID: 39119875 Free PMC article.
Through trio exome sequencing, a de novo SEC16A frameshift variant in a Chinese teenage CP patient is identified. Subsequent targeted next-generation sequencing of the SEC16A gene in 1,061 Chinese CP patients and 1,196 controls reveals a higher allele frequency of r …
Through trio exome sequencing, a de novo SEC16A frameshift variant in a Chinese teenage CP patient is identified. Subsequent targeted …
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah … See abstract for full author list ➔ Monies D, et al. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28600779 Free PMC article.
Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT …
Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CA …
SEC16A is a RAB10 effector required for insulin-stimulated GLUT4 trafficking in adipocytes.
Bruno J, Brumfield A, Chaudhary N, Iaea D, McGraw TE. Bruno J, et al. J Cell Biol. 2016 Jul 4;214(1):61-76. doi: 10.1083/jcb.201509052. Epub 2016 Jun 27. J Cell Biol. 2016. PMID: 27354378 Free PMC article.
RAB10 is a regulator of insulin-stimulated translocation of the GLUT4 glucose transporter to the plasma membrane (PM) of adipocytes, which is essential for whole-body glucose homeostasis. We establish SEC16A as a novel RAB10 effector in this process. Colocalization of S …
RAB10 is a regulator of insulin-stimulated translocation of the GLUT4 glucose transporter to the plasma membrane (PM) of adipocytes, which i …
Sec16A is critical for both conventional and unconventional secretion of CFTR.
Piao H, Kim J, Noh SH, Kweon HS, Kim JY, Lee MG. Piao H, et al. Sci Rep. 2017 Jan 9;7:39887. doi: 10.1038/srep39887. Sci Rep. 2017. PMID: 28067262 Free PMC article.
Notably, during unconventional secretion, Sec16A was redistributed to cell periphery and associated with GRASP55 in mammalian cells. Molecular and morphological analyses revealed that IRE1alpha-mediated signaling is an upstream regulator of Sec16A during ER-to-Golgi …
Notably, during unconventional secretion, Sec16A was redistributed to cell periphery and associated with GRASP55 in mammalian cells. …
Sec16A, a key protein in COPII vesicle formation, regulates the stability and localization of the novel ubiquitin ligase RNF183.
Wu Y, Guo XP, Kanemoto S, Maeoka Y, Saito A, Asada R, Matsuhisa K, Ohtake Y, Imaizumi K, Kaneko M. Wu Y, et al. PLoS One. 2018 Jan 4;13(1):e0190407. doi: 10.1371/journal.pone.0190407. eCollection 2018. PLoS One. 2018. PMID: 29300766 Free PMC article.
RNF183 colocalized with Sec16A and interacted through the central conserved domain (CCD) of Sec16A. Although Sec16A is not a substrate for RNF183, RNF183 was more rapidly degraded by the ER-associated degradation (ERAD) in the absence of Sec16A. ...The …
RNF183 colocalized with Sec16A and interacted through the central conserved domain (CCD) of Sec16A. Although Sec16A is …
Phosphorylation-coupled autoregulation of TANGO1 and Sec16A maintains functional ER exit sites.
Maeda M, Arakawa M, Wakabayashi M, Komatsu Y, Saito K. Maeda M, et al. Nat Commun. 2025 Nov 25;16(1):10434. doi: 10.1038/s41467-025-65409-4. Nat Commun. 2025. PMID: 41290577 Free PMC article.
We previously demonstrated that the interaction between TANGO1 and Sec16A is critical for ERES formation. In this study, we reveal that the phosphorylation of TANGO1 and Sec16A is regulated by a FAM83A/CK1alpha-mediated negative feedback loop. Conversely, their deph …
We previously demonstrated that the interaction between TANGO1 and Sec16A is critical for ERES formation. In this study, we reveal th …
Nbeal2 interacts with Dock7, Sec16a, and Vac14.
Mayer L, Jasztal M, Pardo M, Aguera de Haro S, Collins J, Bariana TK, Smethurst PA, Grassi L, Petersen R, Nurden P, Favier R, Yu L, Meacham S, Astle WJ, Choudhary J, Yue WW, Ouwehand WH, Guerrero JA. Mayer L, et al. Blood. 2018 Mar 1;131(9):1000-1011. doi: 10.1182/blood-2017-08-800359. Epub 2017 Nov 29. Blood. 2018. PMID: 29187380 Free PMC article.
We present here the interactome of Nbeal2 with additional validation by reverse immunoprecipitation of Dock7, Sec16a, and Vac14 as interactors of Nbeal2. We show that GPS-causing mutations in its BEACH domain have profound and possible effects on the interaction with Dock7 …
We present here the interactome of Nbeal2 with additional validation by reverse immunoprecipitation of Dock7, Sec16a, and Vac14 as in …
Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9.
Hu Y, Zeng Z, Ming X, Yin S, Guan Y, Gao L, Li D. Hu Y, et al. Animal Model Exp Med. 2025 Oct 17. doi: 10.1002/ame2.70082. Online ahead of print. Animal Model Exp Med. 2025. PMID: 41104514 Free article.
BACKGROUND: SEC16A is a pivotal protein that facilitates the transport of proteins from the endoplasmic reticulum to the Golgi apparatus. Utilizing the protein structure function database, a potentially pathogenic mutation site (NM_014866.1: c.4606C>G(p.L1536V)) was pin …
BACKGROUND: SEC16A is a pivotal protein that facilitates the transport of proteins from the endoplasmic reticulum to the Golgi appara …
[Clinical value of plasma scaffold protein SEC16A in evaluating hepatitis B-related liver cirrhosis and hepatocellular carcinoma].
Dong C, Chang CD, Zhao DD, Zhang XX, Guo PL, Dou Y, Zhao SX, Nan YM. Dong C, et al. Zhonghua Gan Zang Bing Za Zhi. 2023 Jun 20;31(6):621-626. doi: 10.3760/cma.j.cn501113-20230220-00067. Zhonghua Gan Zang Bing Za Zhi. 2023. PMID: 37400387 Free PMC article. Chinese.
SEC16A, age, and AFP were independent risk factors for the occurrence of HBV-LC and HCC. ...Conclusion: Plasma SEC16A can be used as a diagnostic marker for hepatitis B-related liver cirrhosis and hepatocellular carcinoma. ...
SEC16A, age, and AFP were independent risk factors for the occurrence of HBV-LC and HCC. ...Conclusion: Plasma SEC16A can be u …
KMT2A-MLLT1 and the Novel SEC16A-KMT2A in a Cryptic 3-Way Translocation t(9;11;19) Present in an Infant With Acute Lymphoblastic Leukemia.
de Matos RRC, Ferreira GM, Meyer C, Marschalek R, Larghero P, Ribeiro RC, Liehr T, Othman M, Bizarro MTSM, Sobral da Costa E, Land MGP, Abdelhay E, Binato R, Silva MLM. de Matos RRC, et al. J Pediatr Hematol Oncol. 2022 Apr 1;44(3):e719-e722. doi: 10.1097/MPH.0000000000002386. J Pediatr Hematol Oncol. 2022. PMID: 34966090
Interestingly, long-distance inverse polymerase chain reaction sequencing revealed a KMT2A-MLLT1 and the yet unreported out-of-frame SEC16A-KMT2A fusion, associated with low SEC16A expression and KMT2A overexpression, in an infant with B-acute lymphoblastic leukemia …
Interestingly, long-distance inverse polymerase chain reaction sequencing revealed a KMT2A-MLLT1 and the yet unreported out-of-frame SEC1 …
68 results