ELMO1

Last update 08 May 2025

Basic Info

Synonyms

CED-12, CED12, ELMO-1

+ [5]

Introduction

Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.

100 Clinical Results associated with ELMO1

100 Translational Medicine associated with ELMO1

0 Patents (Medical) associated with ELMO1

214

Literatures (Medical) associated with ELMO1

01 Jun 2025·Gene

Genomic and cellular context-dependent expression of the human ELMO1 gene transcript variants

Article

Author: Nassar-Guifarro, Melanie ; Johnson, Lance A ; Taylor, Lauren S ; Li, Feng ; Monawar, Mohamed-Yahia S ; Maeda, Nobuyo ; Kayashima, Yukako ; Dunn, Sierra M ; Devanney, Nicholas A

Engulfment and cell motility protein 1 (Elmo1) forms a complex with Dedicator of cytokinesis (Dock) 1-5 and promotes GTP-loading of Rac1, the major agent of cell movement. While the pathophysiological roles of Elmo1 have expanded from apoptotic cell engulfment to cancer, inflammation, diabetic nephropathy and cardiomyopathy, little information is available on its transcriptional regulation. Genome databases indicate at least five transcript variants for human ELMO1: the variants V1, V4 and V5 encode a full-length 727 aa protein, whereas V2 and V3 encode a truncated Elmo1 of 247 aa that lacks N-terminal domains. A CpG island promoter drives the major V1 transcript, while an LTR12 drives V5 in intron 1, one of the three LTR12 family of retroviral elements in ELMO1. In contrast, the short-forms V2 and V3 contain CAT-TATA type promoters. Examination of various cell lines by RT-qPCR designed to detect individual transcripts showed that basal transcriptions of the variants were very low to undetectable in cultured cells. However, treatments with Trichostatin A, a histone deacetylase inhibitor, or with 5-Aza-2'-deoxycytidine, a DNA methyl transferase inhibitor, significantly upregulated V1, V4, V5 and V2 expression in a cell line-specific manner, indicating that these transcripts are epigenetically regulated. Another LTR12D transposon in intron 13 also drives an unannotated transcript stimulated by these inhibitors. Finally, we found the levels of V2 transcripts in the mouse and human brain exceed those of V1, suggesting a brain-specific regulation and role of V2 protein.

23 Apr 2025·Archives of endocrinology and metabolism

The rs3844492/ARHGAP22 and rs741301/ELMO1 polymorphisms are associated with changes in laboratory markers of renal damage among patients with type 2 diabetes mellitus.

Article

Author: Vieira, Anna Carolina Meireles ; Canani, Luís Henrique ; Crispim, Daisy ; Dieter, Cristine ; Girardi, Eliandra ; Lemos, Natália Emerim ; Moretto, Luciane ; Brondani, Letícia de Almeida ; Fiegenbaum, Marilu

OBJECTIVETo investigate the association between the rs3844492/ARHGAP22 and rs741301/ELMO1 polymorphisms and diabetic kidney disease in patients with type 2 diabetes mellitus.METHODSThe sample consisted of 740 patients with type 2 diabetes mellitus and diabetic kidney disease (cases) and 303 patients with type 2 diabetes mellitus, but no diabetic kidney disease (controls). The genotyping of the polymorphisms was conducted using real-time polymerase chain reaction with Taqman probes.RESULTSThe frequency of the rs3844492/ARHGAP22 G/G genotype was 16.8% in the control group and 15.7% in cases (p = 0.069). After adjusting for covariables, the presence of the G allele was associated with risk for diabetic kidney disease (OR = 1.435, 95% CI 1.023 - 2.011; p = 0.036), as well as with a decreased estimated glomerular filtration rate (p = 0.012) and elevated creatinine levels (p = 0.009). No difference was observed in the rs741301/ELMO1 genotype frequencies between groups (p = 0.800). However, the presence of the C allele appears to be associated with higher creatinine levels in patients with type 2 diabetes mellitus (p = 0.064).CONCLUSIONThe rs3844492/ARHGAP22 and rs741301/ELMO1 polymorphisms are associated with alterations in renal function markers among patients with type 2 diabetes mellitus.

01 Apr 2025·Clinical Gastroenterology and Hepatology

Multimodal Pancreatic Cancer Detection Using Methylated DNA Biomarkers in Pancreatic Juice and Plasma CA 19-9: A Prospective Multicenter Study

Article

Author: van Hooft, Jeanin E ; Mahoney, Douglas W ; Majumder, Shounak ; Kisiel, John B. ; Delgado, Adriana M. ; Foote, Patrick H. ; Burger, Kelli N. ; De La Fuente, Jaime ; Storm, Andrew C. ; Doering, Karen A ; Storm, Andrew C ; Gleeson, Ferga C ; Doering, Karen A. ; Berger, Calise K. ; Law, Ryan J. ; Chandrasekhara, Vinay ; Vargas Valls, Eric J ; Engels, Megan M.L. ; Kumbhari, Vivek ; Hoogenboom, Sanne A ; Abu Dayyeh, Barham K. ; Klatte, Derk C.F. ; Wallace, Michael B ; Gomez, Victoria ; Engels, Megan M L ; Wallace, Michael B. ; Burger, Kelli N ; Taylor, William R. ; Gandhi, Sonal ; Hoogenboom, Sanne A. ; Vargas Valls, Eric J. ; Sarwal, Dhruv ; Raimondo, Massimo ; Gleeson, Ferga C. ; van Hooft, Jeanin E. ; Rajan, Elizabeth ; Berger, Calise K ; Brahmbhatt, Bhaumik ; Law, Ryan J ; Abu Dayyeh, Barham K ; Lukens, Frank J ; Delgado, Adriana M ; Kisiel, John B ; Klatte, Derk C F ; Mahoney, Douglas W. ; Taylor, William R ; Bofill-Garcia, Aliana ; Lukens, Frank J. ; Foote, Patrick H

BACKGROUND AND AIMSIn previous studies, methylated DNA markers (MDMs) have been identified in pancreatic juice (PJ) for detecting pancreatic ductal adenocarcinoma (PDAC). In this prospective multicenter study, the sensitivity and specificity characteristics of this panel of PJ-MDMs was evaluated standalone and in combination with plasma carbohydrate antigen 19-9 (CA 19-9).METHODSPaired PJ and plasma were assayed from 88 biopsy-proven treatment-naïve PDAC cases and 134 controls (53 with normal pancreas, 23 with chronic pancreatitis [CP], 58 with intraductal papillary mucinous neoplasm). Bisulfite-converted DNA from buffered PJ was analyzed using long-probe quantitative amplified signal assay targeting 14 MDMs (NDRG4, BMP3, TBX15, C13orf18, PRKCB, CLEC11A, CD1D, ELMO1, IGF2BP1, RYR2, ADCY1, FER1L4, EMX1, and LRRC4) and a reference gene (methylated B3GALT6). Logistic regression was used to fit the previously identified 3-MDM PJ panel (FER1L4, C13orf18, and BMP3). Discrimination accuracy was summarized using area under the receiver-operating characteristic curve (AUROC) with corresponding 95% confidence interval (CI).RESULTSMethylated FER1L4 had the highest individual AUROC of 0.83 (95% CI, 0.78-0.89). The AUROC for the 3-MDM PJ + plasma CA 19-9 model (0.95; 95% CI, 0.92-0.98) was higher than both the 3-MDM PJ panel (0.87; 95% CI, 0.82-0.92)) and plasma CA 19-9 alone (0.91; 95% CI, 0.87-0.96) (P = .0002 and .0135, respectively). At a specificity of 88% (95% CI, 81%-93%), the sensitivity of this model was 89% (95% CI, 80%-94%) for all PDAC stages and 83% (95% CI, 64%-94%) for stage I/II PDAC.CONCLUSIONSA panel combining PJ-MDMs and plasma CA 19-9 discriminates PDAC from both healthy and disease control groups with high accuracy. This provides support for combining PJ and blood-based biomarkers for enhancing diagnostic sensitivity and successful early PDAC detection.

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ELMO1

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