DMAC1

Last update 08 May 2025

Basic Info

Synonyms

C9orf123, distal membrane arm assembly component 1, Distal membrane-arm assembly complex protein 1

+ [4]

Introduction

Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I.

100 Clinical Results associated with DMAC1

100 Translational Medicine associated with DMAC1

0 Patents (Medical) associated with DMAC1

Literatures (Medical) associated with DMAC1

01 Nov 2021·AtherosclerosisQ2 · MEDICINE

Genome-wide association study revealed novel candidate gene loci associated with soluble E-selectin levels in a Taiwanese population

Q2 · MEDICINE

Article

Author: Hsu, Lung-An ; Wu, Semon ; Ko, Yu-Lin ; Teng, Ming-Sheng ; Chou, Hsin-Hua ; Tzeng, I-Shiang

BACKGROUND AND AIMSIncrease soluble E-selectin (sE-selectin) levels are associated with various inflammation and cardiometabolic disorders.METHODSThis study aimed to investigate the genetic determinants of circulating sE-selectin levels by genome-wide association study (GWAS) in 4,525 Taiwan Biobank (TWB) participants and genotype-phenotype association analysis for sE-selectin level-determining alleles in over 80,000 TWB participants.RESULTSBy GWAS, ABO, SELE, and FUT6 gene variants were identified as the determinants of sE-selectin levels, which reach genome-wide significance (maximum p = 3.25 × 10^-271, 4.81 × 10^-14, and 9.64 × 10^-12, respectively). After further adjustment for the lead ABO rs2519093 genotypes, three novel gene loci, EVI5, FER and DMAC1, were associated with sE-selectin levels at p < 5 × 10^-7. Three other previously reported gene loci, CELSR2, ST3GAL6-AS1, and HNF1A-AS1, also showed supportive evidence for the association with sE-selectin levels (maximum p < 0.0073). A multivariate analysis revealed age, body mass index, current smoking, hemoglobin A1C, hematocrit, leukocyte and platelet counts, serum alanine aminotransferase, triglycerides, and uric acid levels were independently associated with sE-selectin levels, in which the above ten gene loci contribute to 27.68% of the variance. For genotype-phenotype association analysis, a pleiotropic effect was demonstrated with genome-wide significant association between ABO gene variants and total and low-density-lipoprotein cholesterol levels, leukocyte counts and hematocrit.CONCLUSIONSOur data provide novel insight into the regulation of sE-selectin levels. These results may open new avenues in understanding the critical role of E-selectin on the pathogenesis of inflammatory and cardiometabolic disorders.

01 Aug 2018·CellQ1 · BIOLOGY

Mapping the Genetic Landscape of Human Cells

Q1 · BIOLOGY

Article

Author: Weissman, Jonathan S ; Horlbeck, Max A ; Fischbach, Michael A ; Nakamura, Ken ; Wang, Min ; Chow, Eric D ; Peterson, Tim R ; Bennett, Neal K ; Park, Chong Y ; Bogdanoff, Derek ; Gilbert, Luke A ; Adamson, Britt ; Xu, Albert ; Kampmann, Martin

Seminal yeast studies have established the value of comprehensively mapping genetic interactions (GIs) for inferring gene function. Efforts in human cells using focused gene sets underscore the utility of this approach, but the feasibility of generating large-scale, diverse human GI maps remains unresolved. We developed a CRISPR interference platform for large-scale quantitative mapping of human GIs. We systematically perturbed 222,784 gene pairs in two cancer cell lines. The resultant maps cluster functionally related genes, assigning function to poorly characterized genes, including TMEM261, a new electron transport chain component. Individual GIs pinpoint unexpected relationships between pathways, exemplified by a specific cholesterol biosynthesis intermediate whose accumulation induces deoxynucleotide depletion, causing replicative DNA damage and a synthetic-lethal interaction with the ATR/9-1-1 DNA repair pathway. Our map provides a broad resource, establishes GI maps as a high-resolution tool for dissecting gene function, and serves as a blueprint for mapping the genetic landscape of human cells.

01 Oct 2016·Nature

Accessory subunits are integral for assembly and function of human mitochondrial complex I

Article

Author: Reljic, Boris ; Beilharz, Traude H ; Formosa, Luke E ; Thorburn, David R ; Ryan, Michael T ; Surgenor, Elliot E ; Salim, Agus ; Osellame, Laura D ; Frazier, Ann E ; Dibley, Marris G ; Stroud, David A ; Stait, Tegan

Complex I (NADH:ubiquinone oxidoreductase) is the first enzyme of the mitochondrial respiratory chain and is composed of 45 subunits in humans, making it one of the largest known multi-subunit membrane protein complexes. Complex I exists in supercomplex forms with respiratory chain complexes III and IV, which are together required for the generation of a transmembrane proton gradient used for the synthesis of ATP. Complex I is also a major source of damaging reactive oxygen species and its dysfunction is associated with mitochondrial disease, Parkinson's disease and ageing. Bacterial and human complex I share 14 core subunits that are essential for enzymatic function; however, the role and necessity of the remaining 31 human accessory subunits is unclear. The incorporation of accessory subunits into the complex increases the cellular energetic cost and has necessitated the involvement of numerous assembly factors for complex I biogenesis. Here we use gene editing to generate human knockout cell lines for each accessory subunit. We show that 25 subunits are strictly required for assembly of a functional complex and 1 subunit is essential for cell viability. Quantitative proteomic analysis of cell lines revealed that loss of each subunit affects the stability of other subunits residing in the same structural module. Analysis of proteomic changes after the loss of specific modules revealed that ATP5SL and DMAC1 are required for assembly of the distal portion of the complex I membrane arm. Our results demonstrate the broad importance of accessory subunits in the structure and function of human complex I. Coupling gene-editing technology with proteomics represents a powerful tool for dissecting large multi-subunit complexes and enables the study of complex dysfunction at a cellular level.

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DMAC1

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