UBE2Q1 ubiquitin conjugating enzyme E2 Q1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBE2Q1provided by HGNC
Official Full Name: ubiquitin conjugating enzyme E2 Q1provided by HGNC
Primary source: HGNC:HGNC:15698
See related: Ensembl:ENSG00000160714 MIM:617429; AllianceGenome:HGNC:15698
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GTAP; NICE5; UBE2Q; NICE-5; PRO3094
Summary: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 25.0), lymph node (RPKM 18.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (154548577..154558662, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (153685704..153695786, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (154521053..154531138, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Analysis of the Interaction of UBE2Q1 with B4GALT1 and P53: Experimental and Molecular Modeling Study.
Title: Analysis of the Interaction of UBE2Q1 with B4GALT1 and P53: Experimental and Molecular Modeling Study.
Structural and Functional Characterization of Legionella pneumophila Effector MavL.
Title: Structural and Functional Characterization of Legionella pneumophila Effector MavL.
miR-338-3p inhibits autophagy in a rat model of allergic rhinitis after PM2.5 exposure through AKT/mTOR signaling by targeting UBE2Q1.
Title: miR-338-3p inhibits autophagy in a rat model of allergic rhinitis after PM2.5 exposure through AKT/mTOR signaling by targeting UBE2Q1.
Aberrant methylation of UBE2Q1 promoter is associated with poor prognosis of acute-on-chronic hepatitis B pre-liver failure.
Title: Aberrant methylation of UBE2Q1 promoter is associated with poor prognosis of acute-on-chronic hepatitis B pre-liver failure.
UBE2Q1 is a candidate oncogene involved in HCC development.
Title: Upregulation of UBE2Q1 via gene copy number gain in hepatocellular carcinoma promotes cancer progression through β-catenin-EGFR-PI3K-Akt-mTOR signaling pathway.
hypomethylation of the UBE2Q1 gene promoter is a potential biomarker for detecting hepatitis B virus-associated hepatocellular carcinoma.
Title: Hypomethylated Ubiquitin-Conjugating Enzyme2 Q1 (UBE2Q1) Gene Promoter in the Serum Is a Promising Biomarker for Hepatitis B Virus-Associated Hepatocellular Carcinoma.
UBE2Q1 hypermethylation is associated with Colorectal Cancer.
Title: Promoter Methylation Status of Two Novel Human Genes, UBE2Q1 and UBE2Q2, in Colorectal Cancer: a New Finding in Iranian Patients.
overexpression of UBE2Q1 is associated with Breast Carcinoma.
Title: UBE2Q1 in a Human Breast Carcinoma Cell Line: Overexpression and Interaction with p53.
These data imply that UBE2Q1 is upregulated in liver cancer cell lines and tumorous samples and may play a role in the development of HCC.
Title: Upregulated expression of ubiquitin-conjugating enzyme E2Q1 (UBE2Q1) is associated with enhanced cell proliferation and poor prognosis in human hapatocellular carcinoma.
UBE2Q1 is differentially expressed in colorectal cell lines and shows overexpression in colorectal tumors.
Title: UBE2Q1 expression in human colorectal tumors and cell lines.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A002R33 (e-PCR)
- UniSTS:5437

WI-19713 (e-PCR)
- UniSTS:18803

D1S3272 (e-PCR)
- UniSTS:2501

NoName (e-PCR)
- UniSTS:482799

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin conjugating enzyme activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in embryo implantation	IEA Inferred from Electronic Annotation more info
involved_in fertilization	IEA Inferred from Electronic Annotation more info
involved_in mating behavior	IEA Inferred from Electronic Annotation more info
involved_in prolactin secretion	IEA Inferred from Electronic Annotation more info
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in reproductive system development	IEA Inferred from Electronic Annotation more info
involved_in suckling behavior	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in filopodium	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ubiquitin-conjugating enzyme E2 Q1

Names: E2 ubiquitin-conjugating enzyme Q1; galactosyl transferase-associated protein; protein NICE-5; ubiquitin carrier protein Q1; ubiquitin conjugating enzyme E2Q family member 1; ubiquitin-conjugating enzyme E2Q (putative) 1; ubiquitin-protein ligase Q1

NP_060052.3

EC 2.3.2.23

XP_047280423.1

EC 2.3.2.23

XP_054193503.1

EC 2.3.2.23

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_017582.7 → NP_060052.3 ubiquitin-conjugating enzyme E2 Q1

See identical proteins and their annotated locations for NP_060052.3

Status: REVIEWED

Source sequence(s)

AL592078, AY112698, CA391436

Consensus CDS

CCDS1069.1

UniProtKB/Swiss-Prot

B4DF92, Q29SN7, Q3B841, Q5I0X2, Q6IS04, Q6P7P2, Q7Z7E8, Q96MV4, Q9BVX5, Q9UGL6

UniProtKB/TrEMBL

A7MAV4

Related

ENSP00000292211.4, ENST00000292211.5

Conserved Domains (1) summary

cl00154
Location:253 → 409

UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...