UBE2Z ubiquitin conjugating enzyme E2 Z [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBE2Zprovided by HGNC
Official Full Name: ubiquitin conjugating enzyme E2 Zprovided by HGNC
Primary source: HGNC:HGNC:25847
See related: Ensembl:ENSG00000159202 MIM:611362; AllianceGenome:HGNC:25847
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: USE1; HOYS7
Summary: This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012]
Expression: Ubiquitous expression in thyroid (RPKM 33.3), brain (RPKM 25.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (48908407..48929056)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (49772123..49792776)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (46985769..47006418)

Chromosome 17 - NC_000017.11 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
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?

Association between the UBE2Z rs46522 and TCF7L2 rs7903146 polymorphisms with type 2 diabetes in south western Iran.
Title: Association between the UBE2Z rs46522 and TCF7L2 rs7903146 polymorphisms with type 2 diabetes in south western Iran.
Upregulation of ubiquitin-conjugating enzyme E2Z is associated with human hepatocellular carcinoma.
Title: Upregulation of ubiquitin-conjugating enzyme E2Z is associated with human hepatocellular carcinoma.
UBE2Z gene rs46522 polymorphism is associated with abnormal metabolic parameters in Mexican patients with MI
Title: The rs46522 Polymorphism of the Ubiquitin-Conjugating Enzyme E2Z Gene Is Associated with Abnormal Metabolic Parameters in Patients with Myocardial Infarction: The Genetics of Atherosclerosis Disease Mexican Study.
The SNP rs46522 in UBE2Z gene is associated with the risk of coronary Artery disease in the individuals of Chinese Han descent with type 2 diabetes and is of synergistic effect with Body mass index.
Title: Rs46522 in the Ubiquitin-Conjugating Enzyme E2Z Gene Is Associated with the Risk of Coronary Artery Disease in Individuals of Chinese Han Population with Type 2 Diabetes.
we found that USE1 proteins were frequently overexpressed in human lung cancer. Furthermore, overexpression of USE1 promoted in vivo and in vitro proliferation, migration, and invasion.
Title: Association of Uba6-Specific-E2 (USE1) With Lung Tumorigenesis.
Association of UBE2Z single nucleotide polymorphism rs46522 with the susceptibility to coronary artery disease in an Iranian population.
Title: Evaluating the association of common UBE2Z variants with coronary artery disease in an Iranian population.
UBE2Z was widely expressed in human tissues and is located on chromosome 17q21.
Title: Cloning and characterization of a gene encoding the human putative ubiquitin conjugating enzyme E2Z (UBE2Z).
In tissue culture cells, Uba6 is required for charging a previously uncharacterized Uba6-specific E2 (Use1), whereas Ube1 is required for charging the cell-cycle E2s Cdc34A and Cdc34B
Title: Dual E1 activation systems for ubiquitin differentially regulate E2 enzyme charging.

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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
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ubiquitin-conjugating enzyme E2Z (UBE2Z) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A009L01 (e-PCR)
- UniSTS:71484

RH48263 (e-PCR)
- UniSTS:48211

RH17824 (e-PCR)
- UniSTS:73832

G32634 (e-PCR)
- UniSTS:117217

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
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 apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ubiquitin-conjugating enzyme E2 Z

Names: E2 ubiquitin-conjugating enzyme Z; UBA6-specific enzyme E2; uba6-specific E2 conjugating enzyme 1; ubiquitin carrier protein Z; ubiquitin conjugating enzyme E2Z; ubiquitin-protein ligase Z

NP_075567.2

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_023079.5 → NP_075567.2 ubiquitin-conjugating enzyme E2 Z

See identical proteins and their annotated locations for NP_075567.2

Status: VALIDATED

Source sequence(s)

AC091133, AK122770, AL713782, BC015890

Consensus CDS

CCDS11540.2

UniProtKB/Swiss-Prot

A6N8M6, A6NC60, Q7L354, Q8TCM4, Q9H832, Q9H893

Related

ENSP00000354201.5, ENST00000360943.10

Conserved Domains (1) summary

cd00195
Location:103 → 221

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 ...