SEC31A

Last update 08 May 2025

Basic Info

Synonyms

ABP125, ABP130, KIAA0905

+ [7]

Introduction

Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (PubMed:10788476). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity).

100 Clinical Results associated with SEC31A

100 Translational Medicine associated with SEC31A

0 Patents (Medical) associated with SEC31A

Literatures (Medical) associated with SEC31A

01 Apr 2025·Clinical Genetics

Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects

Article

Author: Alharby, Essa ; Almontashiri, Naif A. M. ; Alruqi, Haya ; Hashmi, Jamil Amjad ; Mushiba, Aziza

Biallelic loss of function variant in SEC31A is associated with lethal neurodevelopmental disorder, dysmorphic features, and skeletal defects.

01 Feb 2025·Science of The Total Environment

Quantification of heavy metal exposure in a British population cohort links total mercury levels in plasma with skin tissue-specific changes in mitochondrial-related gene expression

Article

Author: Glastonbury, Craig A ; Staff, James F ; Spector, Tim D ; Ali, Aminah Tasnim ; Bell, Jordana T ; Hodgkinson, Alan ; Valdes, Ana M ; Small, Kerrin S ; El-Sayed Moustafa, Julia S ; van de Streek, Marcel ; Morton, Jackie

Heavy metals in our direct environment have profound effects on human health and while some are essential for life, others can be toxic. In vivo studies often focus on clinical features caused by overexposure to, or by deprivation of a heavy metal. However, to understand the cellular impact of heavy metals on health, studies in healthy volunteers before symptom onset are needed. Here, we explored the impact of mercury, lead and selenium in over 800 British female twins on multi-tissue gene expression levels as an intermediate phenotype. Total mercury, lead and selenium concentrations were determined in plasma as a proxy for heavy metal exposure. We identified significant associations between total mercury levels measured in plasma, that fall within normal ranges, and expression of 873 genes within skin tissue, including PUSL1, SAMD10, ERCC1, MRPL17, NDUFB8, SELENOH, SEC31A, and KAT7P1. Functional analysis of genes associated with total mercury levels in plasma show a strong link to the mitochondrial oxidative phosphorylation pathway (p-value = 3.02 × 10^-10). Analysis of mitochondrial-specific gene expression supported involvement of genes of oxidative phosphorylation complexes (MT-ND4L, and MT-ND5), which are encoded in mitochondrial DNA. These results suggest that mercury is likely detrimental to the energy metabolism of mitochondria. We also tested for associations between total mercury levels in plasma and gene expression in adipose and whole blood samples, but did not identify significant associations in these tissues, nor with lead or selenium in any tissue. Our results demonstrate that subtoxic mercury exposure leaves a clear molecular signature. It also underscores the necessity of conducting tissue-specific association studies to accurately capture the molecular impact of environmental exposures, as only relevant tissues will manifest a response to environmental exposures.

01 Dec 2024·Pathology

ALK-positive large B-cell lymphoma: a clinicopathological and molecular characteristics analysis of seven cases

Article

Author: Zhang, Yuxiu ; Xu, Haimin ; Guo, Tuanjie ; Li, Anqi ; Wang, Xu ; Ouyang, Binshen ; Wang, Xuan ; Wang, Chaofu ; Li, Yimin ; Dong, Lei ; Yi, Hongmei ; Liu, Qingxiao

Anaplastic lymphoma kinase-positive large B-cell lymphoma (ALK⁺ LBCL) is a rare and highly aggressive lymphoma with characteristic ALK rearrangements. Various fusion genes involving ALK have been demonstrated, but the influence of the ALK fusion partners on ALK protein expression and the genetic characteristics of ALK⁺ LBCL remain relatively unknown. In this study, we conducted an extensive clinicopathological and molecular analysis on seven cases of ALK⁺ LBCL to explore the correlation between ALK fusion genes and ALK protein expression, thereby enriching the genetic characteristics of this tumour. We integrated the findings from clinical, histopathological/immunophenotypic, and molecular studies, including three samples subjected to next-generation sequencing, and six cases underwent RNA-based ALK fusion gene detection. We identified five distinct types of ALK fusion genes, including CLTC, NPM1, PABPC1, SEC31A, and TFG. Notably, only the NPM1::ALK fusion showed nuclear and cytoplasmic ALK staining, and the remaining four fusion genes resulted in cytoplasmic ALK staining. Our analysis revealed that the CLTC::ALK fusion resulted in a unique cytoplasmic perinuclear Golgi zone focal granular heterogeneous staining pattern of ALK. Additionally, we identified six potentially clinically significant gene mutations, including TET2, CHD2, DTX1, KMT2D, LRP1B, and XPO1. Furthermore, in all cases, the absence of 5-hydroxymethylcytosine (5hmC) was observed. We present seven cases of ALK⁺ LBCL, discussing the correlation between fusion genes and ALK protein expression, and enhancing our understanding of the genetic attributes of this tumour. This study also shows the loss of 5hmC in nearly all seven ALK⁺ LBCL cases, independently of TET2 mutations.

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SEC31A

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