UBE2E1

Last update 08 May 2025

Basic Info

Synonyms

(E3-independent) E2 ubiquitin-conjugating enzyme E1, E2 ubiquitin-conjugating enzyme E1, UbcH6

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Introduction

Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes the covalent attachment of ISG15 to other proteins. Mediates the selective degradation of short-lived and abnormal proteins. In vitro also catalyzes 'Lys-48'-linked polyubiquitination. Catalyzes monoubiquitination of other proteins in both an E3-dependent and E3-independent manner (PubMed:27237050).

100 Clinical Results associated with UBE2E1

100 Translational Medicine associated with UBE2E1

0 Patents (Medical) associated with UBE2E1

Literatures (Medical) associated with UBE2E1

23 Jan 2025·JCI Insight

Noncoding variation near UBE2E2 orchestrates cardiometabolic pathophenotypes through polygenic effectors

Article

Author: David, Natalie L ; Chen, Hongyin ; Kumar, G V Naveen ; Qiao, Wanning ; Yang, Jinzhao ; Zhang, Yang ; Steinhauser, Matthew L ; Sharma, Ankit X ; Liu, Silvia ; Pesaresi, Tristan ; Amorim, Tania ; Patel, Kareena ; Andrews, Rosemary E

Mechanisms underpinning signals from genome-wide association studies remain poorly understood, particularly for noncoding variation and for complex diseases such as type 2 diabetes mellitus (T2D) where pathogenic mechanisms in multiple different tissues may be disease driving. One approach is to study relevant endophenotypes, a strategy we applied to the UBE2E2 locus where noncoding single nucleotide variants (SNVs) are associated with both T2D and visceral adiposity (a pathologic endophenotype). We integrated CRISPR targeting of SNV-containing regions and unbiased CRISPR interference (CRISPRi) screening to establish candidate cis-regulatory regions, complemented by genetic loss of function in murine diet-induced obesity or ex vivo adipogenesis assays. Nomination of a single causal gene was complicated, however, because targeting of multiple genes near UBE2E2 attenuated adipogenesis in vitro; CRISPR excision of SNV-containing noncoding regions and a CRISPRi regulatory screen across the locus suggested concomitant regulation of UBE2E2, the more distant UBE2E1, and other neighborhood genes; and compound heterozygous loss of function of both Ube2e2 and Ube2e1 better replicated pathological adiposity and metabolic phenotypes compared with homozygous loss of either gene in isolation. This study advances a model whereby regulatory effects of noncoding variation not only extend beyond the nearest gene but may also drive complex diseases through polygenic regulatory effects.

01 Jun 2024·Eye

Ocular and orbital manifestations in VEXAS syndrome

Article

Author: Edel, Yonatan ; Eviatar, Tali ; Ben Cnaan, Ran ; Abumanhal, Muhammad ; Zisapel, Michael ; Leibovitch, Igal

AbstractBackgroundVEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a hematoinflammatory disease that typically affects adults. It results from a somatic mutation of the E1 ubiquitin conjugating enzyme encoded by the UBA1 gene. VEXAS is frequently accompanied by myelodysplastic syndrome (MDS). The purpose of this study is to describe the ocular and orbital manifestations of VEXAS patients in a case series in our medical centre.MethodsA retrospective chart review was performed for all patients who were diagnosed with VEXAS syndrome in a tertiary medical centre over two years.ResultsEight patients were identified with VEXAS. In six patients, the diagnosis was confirmed by genomic sequencing. Two patients were identified based on their phenotype. All patients were males. The mean age at diagnosis was 78.7 years. In two patients, the ocular manifestation was the presenting symptom for VEXAS. Seven patients (87.5%) had history of MDS. Systemic inflammation manifestations include: skin rash (n = 5), recurrent fevers (n = 2), relapsing polychondritis (n = 2), pleuritis and pleural effusion (n = 2), poly arteritis nodosa- PAN (n = 1) and thrombophlebitis (n = 1). Seven (87%) patients were presented with periorbital oedema. Three patients showed orbital inflammation. Dacryoadenitis was observed in two patients, and extraocular muscle (EOM) myositis was detected in two patients. Four patients demonstrated ocular inflammation such as: episcleritis, scleritis and anterior uveitis.Conclusionocular manifestations in VEXAS include orbital inflammation, dacryoadenitis, myositis, uveitis, scleritis, episcleritis and periorbital oedema. We recommend that in old male patients, with history of haematological disorder, presenting with ocular symptom, VEXAS investigation should be taken into consideration.

01 Feb 2023·Clinical Rheumatology

Identification of key genes and pathways associated with sex differences in rheumatoid arthritis based on bioinformatics analysis

Article

Author: Wu, Jianhong ; Wei, Yuanli ; Wei, Lingli ; Zhang, Weihua ; Li, Xue ; Xie, Huanhuan ; Wang, Dongmei ; Liu, Caizhen ; Xiong, Siying ; Li, Shilin ; Zeng, Fanxin ; Wang, Tingting

INTRODUCTIONWomen are more likely than men to develop the chronic, progressive autoimmune disease known as rheumatoid arthritis (RA). Although there may be a complex interplay between sex-based differences and autoimmune dysfunction. Their function in RA is largely unknown, though. The purpose of this study was to pinpoint the crucial genes and metabolic pathways that control biological variations in RA between men and women.METHODSFirst, the Gene Expression Omnibus database's gene expression information for GSE39340 and GSE55457 was downloaded (GEO). R software was used to find each of the individually identified differentially expressed genes (DEGs) between the sexes. DEGs that overlapped were found. The interactions between the overlapping DEGs were then further examined using a protein-protein interaction (PPI) network. The Kyoto Encyclopedia of Genes and Genomes and Gene Ontology tools, respectively, were used to perform enrichment analyses.RESULTSAccording to our findings, there were 1169 DEGs that overlapped between RA males and females, comprising 845 up-regulated genes and 324 down-regulated genes. Ten hub genes, including PIK3R1, RAC1, HRAS, PTPN11, UQCRB, NDUFV1, EGF, UBA1, UBE2G1, and UBE2E1, were discovered in the PPI network. According to a functional enrichment analysis, these genes were primarily enriched in neurodegenerative illnesses, including various disease pathways, MAPK signaling, insulin signaling, and autophagy.CONCLUSIONThe current data point to the possibility that the MAPK pathway and autophagy may be significant contributors to sex differences in RA. PTPN11, EGF, and UBA1 may be important genes linked to the gender development of RA and are anticipated to be therapeutic targets for the disease. Key Points • Our research point to the possibility that the MAPK pathway and autophagy may be significant contributors to sex differences in RA. • PTPN11, EGF, and UBA1 may be important genes linked to the gender development of RA and are anticipated to be therapeutic targets for the disease. • These findings may aid in the development of novel diagnostic and treatment techniques for RA in men and women.

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UBE2E1

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