AP1G1

更新于：2025-05-07

基本信息

别名

Adaptor protein complex AP-1 subunit gamma-1、adaptor related protein complex 1 subunit gamma 1、Adaptor-related protein complex 1 subunit gamma-1

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简介

Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. In association with AFTPH/aftiphilin in the aftiphilin/p200/gamma-synergin complex, involved in the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025).

关联

100 项与 AP1G1 相关的临床结果

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100 项与 AP1G1 相关的转化医学

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0 项与 AP1G1 相关的专利（医药）

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项与 AP1G1 相关的文献（医药）

2025-01-01·Developmental Medicine & Child Neurology

Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases

Article

作者: Grimes, Hannah ; Dallosso, Anthony R. ; Berry, Ian ; Low, Karen J. ; Bowman, Pamela ; Rankin, Julia ; Mullin, Stephen

AbstractFirst‐line genetic investigations for rare neurological and developmental conditions have limitations in their ability to detect and characterize copy number variants (CNVs). Whole genome sequencing (WGS) offers potential advantages over other methods of CNV analysis. We aimed to demonstrate the utility of CNV detection using WGS through description of three clinical cases. WGS analysis was undertaken in three patients presenting to a national rare disease service, in whom a genetic aetiology remained uncertain after gene panel testing or microarray based comparative genomic hybridization (array CGH). In all three cases, WGS identified CNVs and confirmed zygosity and pathogenicity, resulting in genetic diagnoses of PRKN‐related Parkinson disease, TAOK1‐related neurodevelopmental disorder, and AP1G1‐related Usmani‐Riazuddin syndrome. This case series demonstrates the value of WGS analysis in identifying or better characterizing CNVs that were missed or deemed of uncertain significance using conventional methods of testing. Importantly, our approach facilitated accurate genetic diagnosis and counselling for the families involved.

2024-12-01·Poultry Science

OTUD1 regulates cytokine expression and related pathways in goose fatty liver by promoting deubiquitination of its target proteins

Article

作者: Ge, Jing ; Liu, Long ; Zhou, Xiaoyi ; Gong, Daoqing ; Zhang, Pei ; Lv, Mengqing ; Wang, Yuqing ; Xing, Ya ; Geng, Tuoyu ; Gong, Haizhou ; Zhu, Suyan ; Zhao, Minmeng

Goose fatty liver (or foie gras) does not develop inflammation even in severe steatosis, which is different from human nonalcoholic fatty liver disease (NAFLD), and it is considered as a unique model for NAFLD study. The deubiquitinating enzyme, Ovarian Tumor (OTU)-Deubiquitinase 1 (OTUD1), is involved in various cell biological processes by regulating the expression of cytokines. Its role and mechanism in the formation of goose fatty liver however are not clear yet. This study determined the expression of OTUD1 in goose fatty liver versus normal liver and OTUD1 expression in goose primary liver treated with glucose, fatty acids and insulin using qPCR and immunoblotting assays. OTUD1 gene overexpression and subsequent transcriptome sequencing analysis were performed to identify the differentially expressed genes (DEG) and the pathways where the DEGs are enriched. Immunoprecipitation and protein mass spectrometry were employed to screen the interacting proteins of OTUD1. The results showed that both the mRNA and protein abundances of OTUD1 in goose fatty liver were higher than those of normal liver. In goose primary hepatocytes, palmitic acid and oleic acid both increased the protein levels of OTUD1, while glucose and insulin inhibited the expression of the protein. Overexpression of OTUD1 significantly affected the expression of genes and pathways related to inflammatory/immune responses and cell growth/death. The interacting proteins of OTUD1 are mainly related to membrane transport, immune/inflammatory response, ubiquitination and signaling pathways. The interaction between OTUD1 and AP1G1 was validated by co-immunoprecipitation and immunoblotting assays. Consistently, the relative ubiquitination level of AP1G1 in goose fatty liver was lower than that of normal liver, which is correlated with increased protein abundance of AP1G1 and OTUD1 in goose fatty liver. In conclusion, the increased protein abundance of OTUD1 in goose fatty liver can regulate the expression of cytokines and related pathways during the formation of goose fatty liver by promoting the deubiquitination of the interacting proteins of OTUD1, including AP1G1.

2024-07-01·Clinical Genetics

Usmani‐Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant

Article

作者: Bartuli, Andrea ; Novelli, Antonio ; Pascolini, Giulia ; Parlapiano, Giovanni ; Petrizzelli, Francesco ; Gnazzo, Maria ; Perrino, Daniele ; Porco, Luigina ; Baban, Anwar

AbstractUsmani‐Riazuddin syndrome (USRISR, MIM# 619548; USRISD, MIM#619467) is a very rare genetic condition. recently associated with deleterious variants in AP1G1 (MIM* 603533). It is characterized by multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, muscular tone disorders, seizures, limb defects, and unspecified facial gestalt. In this report, we describe this syndrome for the second time, in association to a novel AP1G1 variant identified in a toddler with multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, arrhythmias, hearing loss, skin changes, and limb defects. Next generation sequencing (NGS) analysis through clinical exome disclosed AP1G1: c.1969C>G (p.Leu657Val), de novo, likely pathogenic variant, according to ACMG classification criteria. Proband's facial features resembled the spectrum of chromatinopathies. Clinical pictures were analyzed and a clinical overlap was supported by DeepGestalt analysis (www.face2gene.com). The system identified 6 chromatin disorders out of 30 possible diagnoses. The remaining 24 included 9 miscellaneous cryptic chromosomal abnormalities (excluded due to normal microarray study). To the best of our knowledge, this is the first description of likely distinctive facial features in a patient with Usmani‐Riazuddin syndrome. Further multicentric analyses are needed for a better definition of this aspect.

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