ARL17B

Last update 08 May 2025

Basic Info

Synonyms

ADP ribosylation factor like GTPase 17B, ADP-ribosylation factor 7 variant, ADP-ribosylation factor-like protein 17

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Introduction

GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus (By similarity).

100 Clinical Results associated with ARL17B

100 Translational Medicine associated with ARL17B

0 Patents (Medical) associated with ARL17B

Literatures (Medical) associated with ARL17B

01 Dec 2024·Alzheimer's & Dementia

A deep learning‐based deconvolution framework identifies human brain cell‐type specific expression quantitative trait loci (eQTLs) and pathobiology in Alzheimer’s disease

Article

Author: Xu, Jielin ; Hou, Yuan ; Cheng, Feixiong ; Dou, Lijun

AbstractBackgroundCell‐type specific expression quantitative trait loci (eQTLs) can help dissect cellular heterogeneity in the impact of genetic variation on gene expression for Alzheimer’s disease (AD) and AD‐related dementia (ADRD). However, due to the high cost and stringent sample collection criteria, it is challenging to obtain large single‐nuclei RNA sequencing (snRNA‐seq) data with sufficient cohort size to match genotyping data to systematically identify human brain‐specific eQTLs for AD/ADRD.MethodIn this study, we presented a deep learning‐based deconvolution framework on large‐scale bulk RNA sequencing (RNA‐seq) data to infer cell‐type specific eQTLs in the human brains with AD/ADRD. Specifically, we first predicted the brain cell‐type specific gene expression for the harmonized bulk RNA dataset (n = 1,092) from Religious Orders Study and Memory and Aging Project (ROS/MAP). We then incorporated the inferred cell‐type specific gene expression with matched whole genome sequencing (WGS) data from ROS/MAP to identify the brain cell‐type specific eQTLs. These cell‐type specific eQTLs were further colocalized with AD genome‐wide association study (GWAS) findings to discover potential risk genes and druggable targets for AD.ResultWe identified 44,504 genome‐wide significant cell‐type specific cis‐eQTLs (window size = 1Mb, p < 5 × 10‐8) from eight brain cell types, including excitatory neurons, inhibitory neurons, microglia, oligodendrocytes, oligodendrocyte precursor cells, astrocytes, and endothelium. Approximate 2,732 eQTLs in astrocytes and 7,628 in excitatory neurons are identical to the results from a large existing snRNA‐seq data, associated with the regulation of multiple genes (eGenes, e.g., ARL17B, LRRC37A2, ERAP2, PILRB, ZNF266). We illustrated that the GWAS variant rs199456 (AD GWAS: p = 2.57 × 10‐9) co‐localized with its regulatory effect on LRRC37A2, LRRC37A and ARL17B gene expression in excitatory neurons.ConclusionIn summary, this study presented comprehensive brain cell type‐specific eQTL analysis and identified potential eQTL‐regulated likely causal genes from AD GWAS findings using a deep learning‐based deconvolution framework. It offers an opportunity to efficiently discover the effect of GWAS loci on gene expression at cell type‐specific manners using genotyping data and matched bulk RNA‐seq data instead of costly snRNA‐seq data. Functional validation of candidate eQTLs and associated genes are warranted in the future.

01 Oct 2023·Movement disorders : official journal of the Movement Disorder Society

Shared Genetics and Comorbid Genes of Amyotrophic Lateral Sclerosis and Parkinson's Disease.

Article

Author: Ma, Guochen ; Tian, Ye ; Zhou, Siquan ; Xiong, Jingyuan ; Cheng, Guo ; Xu, Yujie ; Wang, Xiaoyu ; Shan, Shufang ; Li, Haoqi ; Zeng, Yaxian

BACKGROUNDComorbidity exists between amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD), but the role of genetic factors is unclear.OBJECTIVEWe aim to investigate genetic correlation, causal relationship, and comorbid genes between ALS and PD.METHODSLeveraging the largest genome-wide association study data (ALS: 27,205 cases, 110,881 controls; PDG: 33,674 cases, 449,056 controls), we used linkage disequilibrium score regression and Mendelian randomization analysis for genetic correlation and causal inference. We performed genome-wide cross-trait analysis via Multi-Trait Analysis of Genome-Wide Association Studies and Cross-Phenotype Association to identify specific single-nucleotide polymorphisms, followed by functional mapping and annotation. Integrating expression quantitative trait loci data from 13 brain regions, we conducted a transcriptome-wide association study via functional summary-based imputation and joint-tissue imputation to explore comorbid genes, followed by pathway enrichment analysis.RESULTSWe found that PD positively correlates with ALS (r_g = 0.144, P = 0.026) and confers a causal effect (odds ratio = 1.09, 95% confidence interval: 1.03-1.15, P = 3.00 × 10^-3 ). We identified nine single-nucleotide polymorphisms (eight new), associating with three risk loci (chromosomes 4, 10, and 17) and seven genes (TMEM175, MAPT, NSF, LRRC37A2, ARHGAP27, GAK, and FGFRL1). In transcriptome-wide association study analysis, we showed six previously unreported pleiotropic genes (KANSL1, ARL17B, EFNA1, WNT3, ERCC8, and ADAM15), and we found these candidate genes are mainly enriched in negative regulation of neuron projection development (GO:0010977).CONCLUSIONSOur work demonstrates shared genetic architecture between ALS and PD, reports new pleiotropic genes, and sheds light on the comorbid mechanism. © 2023 International Parkinson and Movement Disorder Society.

01 Oct 2023·DNA and cell biology

Altered G-Protein Transduction Protein Gene Expression in the Testis of Infertile Patients with Nonobstructive Azoospermia.

Article

Author: Azizi, Hossein ; Skutella, Thomas ; Hashemi Karoii, Danial

Recent studies have shown that several members of the G-protein-coupled receptors (GPCR) superfamily play crucial roles in the maintenance of ion-water homeostasis of the sperm and Sertoli cells, development of the germ cells, formation of the blood barrier, and maturation of sperm. The GPCR, guanyl-nucleotide exchange factor, membrane traffic protein, and small GTPase genes were analyzed by microarray and bioinformatics (3513 sperm and Sertoli cell genes). In the microarray analyses of three human cases with different nonobstructive azoospermia sperm, the expression of GOLGA8IP, OR2AT4, PHKA1, A2M, OR56A1, SEMA3G, LRRC17, APP, ARHGAP33, RABGEF1, NPY2R, GHRHR, LTB4R2, GRIK5, OR6K6, NAPG, OR6C65, VPS35, FPR3, and ARL4A was upregulated, while expression of MARS, SIRPG, OGFR, GPR150, LRRK1, and NGEF was downregulated. There was an increase in GBP3, GBP3, TNF, TGFB3, and CLTC expression in the Sertoli cells of three human cases with NOA, whereas expression of PAQR4, RRAGD, RAC2, SERPINB8, IRPB1, MRGPRF, RASA2, SIRPG, RGS2, RAP2A, RAB2B, ARL17, SERINC4, XIAP, DENND4C, ANKRA2, CSTA, STX18, and SNAP23 were downregulated. A combined analysis of Enrich Shiny Gene Ontology (GO), STRING, and Cytoscape was used to predict proteins' molecular interactions and then to recognize master pathways. Functional enrichment analysis showed that the biological process (BP), regulation of protein metabolic process, regulation of small GTPase-mediated signal transduction were significantly expressed in up-/downregulated differentially expressed genes (DEGs) in sperm. In molecular function (MF) experiments of DEGs that were up-/downregulated, it was found that GPCR activity, guanyl ribonucleotide binding, GTPase activity and nucleoside-triphosphatase activity were overexpressed. An analysis of GO enrichment findings of Sertoli cells showed BP and MF to be common DEGs. When these gene mutations have been validated, they can be used to create new GPCR antagonists or agonists that are receptor-selective.

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ARL17B

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