UBE4B ubiquitination factor E4B [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBE4Bprovided by HGNC
Official Full Name: ubiquitination factor E4Bprovided by HGNC
Primary source: HGNC:HGNC:12500
See related: Ensembl:ENSG00000130939 MIM:613565; AllianceGenome:HGNC:12500
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: E4; UFD2; HDNB1; UBOX3; UFD2A
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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 12.1), skin (RPKM 10.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (10032958..10181239)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (9576012..9724288)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (10093016..10241297)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

UBE4B regulates p27 expression in A549 NSCLC cells through regulating the interaction of HuR and the p27 5' UTR.
Title: UBE4B regulates p27 expression in A549 NSCLC cells through regulating the interaction of HuR and the p27 5' UTR.
UBE4B interacts with the ITCH E3 ubiquitin ligase to induce Ku70 and c-FLIPL polyubiquitination and enhanced neuroblastoma apoptosis.
Title: UBE4B interacts with the ITCH E3 ubiquitin ligase to induce Ku70 and c-FLIPL polyubiquitination and enhanced neuroblastoma apoptosis.
A novel protein encoded by circUBE4B promotes progression of esophageal squamous cell carcinoma by augmenting MAPK/ERK signaling.
Title: A novel protein encoded by circUBE4B promotes progression of esophageal squamous cell carcinoma by augmenting MAPK/ERK signaling.
Upregulated UBE4B expression correlates with poor prognosis and tumor immune infiltration in hepatocellular carcinoma.
Title: Upregulated UBE4B expression correlates with poor prognosis and tumor immune infiltration in hepatocellular carcinoma.
UBE4B promotes the development of lung adenocarcinoma by enhancing proliferation, migration and glycolysis via PP2A/AKT signaling.
Title: UBE4B promotes the development of lung adenocarcinoma by enhancing proliferation, migration and glycolysis via PP2A/AKT signaling.
UBE4B, a microRNA-9 target gene, promotes autophagy-mediated Tau degradation.
Title: UBE4B, a microRNA-9 target gene, promotes autophagy-mediated Tau degradation.
neuroblastoma cells with low UBE4B levels were significantly more sensitive to combined EGFR and STAT5 inhibition than parental cells. These findings may have potential therapeutic implications for patients with 1p36 chromosome LOH and low tumor UBE4B expression.
Title: Low UBE4B expression increases sensitivity of chemoresistant neuroblastoma cells to EGFR and STAT5 inhibition.
Phosphatase PGAM5 (phosphoglycerate mutase 5) and deubiquitinase OTUB1 (ovarian tumor domain containing ubiquitin aldehyde binding protein 1) were confirmed as E4B substrates, and beta-catenin and CDK4 (cyclin-dependent kinase 4) were confirmed as CHIP substrates.
Title: Identifying the substrate proteins of U-box E3s E4B and CHIP by orthogonal ubiquitin transfer.
miR-1301 functions as a tumor suppressor that inhibits tumor cell migration and invasion in multiple human cancer cells by regulating the UBE4B-p53 pathway.
Title: MicroRNA-1301 suppresses tumor cell migration and invasion by targeting the p53/UBE4B pathway in multiple human cancer cells.
UBE4B promotes endogenous phospho-p53(S15) and phospho-p53(S392) degradation in response to gamma irradiation. UBE4B plays an important role in regulating phosphorylated p53 following DNA damage.
Title: UBE4B targets phosphorylated p53 at serines 15 and 392 for degradation.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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 identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers. 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

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

L18426 (e-PCR)
- UniSTS:34648

SHGC-74188 (e-PCR)
- UniSTS:14172

D1S1423 (e-PCR)
- UniSTS:149619

D11S3114 (e-PCR)
- UniSTS:152207

AL009864 (e-PCR)
- UniSTS:69542

AL009691 (e-PCR)
- UniSTS:50342

SHGC-30343 (e-PCR)
- UniSTS:58811

G20815 (e-PCR)
- UniSTS:20709

A006H31 (e-PCR)
- UniSTS:20710

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-ubiquitin ligase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in granzyme-mediated apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to UV	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of ubiquitin ligase complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ubiquitin conjugation factor E4 B

Names: RING-type E3 ubiquitin transferase E4 B; homologous to yeast UFD2; homozygously deleted in neuroblastoma-1; ubiquitin-fusion degradation protein 2; ubiquitination factor E4B (UFD2 homolog, yeast)

NP_001099032.1

EC 2.3.2.27

NP_001397673.1

EC 2.3.2.27

NP_006039.2

EC 2.3.2.27

XP_011538790.1

EC 2.3.2.27

XP_011538791.1

EC 2.3.2.27

XP_011538792.1

EC 2.3.2.27

XP_016855524.1

EC 2.3.2.27

XP_047283974.1

EC 2.3.2.27

XP_054189771.1

EC 2.3.2.27

XP_054189772.1

EC 2.3.2.27

XP_054189773.1

EC 2.3.2.27

XP_054189774.1

EC 2.3.2.27

XP_054189775.1

EC 2.3.2.27

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_001105562.3 → NP_001099032.1 ubiquitin conjugation factor E4 B isoform 1

See identical proteins and their annotated locations for NP_001099032.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB014584, AB028839, AF043117, AK292444, AL590639, BC093696, BQ001243

Consensus CDS

CCDS41245.1

UniProtKB/Swiss-Prot

A8K8S9, G0ZJH6, O75169, O95155, O95338, Q5SZ12, Q5SZ16, Q96QD4, Q9BYI7

UniProtKB/TrEMBL

B4E2Y2

Related

ENSP00000343001.6, ENST00000343090.11

Conserved Domains (2) summary

pfam04564
Location:1228 → 1299

U-box; U-box domain

pfam10408
Location:591 → 1211

Ufd2P_core; Ubiquitin elongating factor core
NM_001410744.1 → NP_001397673.1 ubiquitin conjugation factor E4 B isoform 3

Status: REVIEWED

Source sequence(s)

AL096841, AL590639

Consensus CDS

CCDS90857.1

Related

ENSP00000500453.1, ENST00000672724.1
NM_006048.5 → NP_006039.2 ubiquitin conjugation factor E4 B isoform 2

See identical proteins and their annotated locations for NP_006039.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame coding exon in the middle region of the CDS, and thus encodes a shorter isoform (2), as compared to variant 1.

Source sequence(s)

AB014584, AB028839, AF043117, AK292444, AL590639, BC093696, BQ001243

Consensus CDS

CCDS110.1

UniProtKB/TrEMBL

B4E2Y2

Related

ENSP00000253251.8, ENST00000253251.12

Conserved Domains (2) summary

pfam04564
Location:1099 → 1170

U-box; U-box domain

pfam10408
Location:462 → 1082

Ufd2P_core; Ubiquitin elongating factor core

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

10032958..10181239

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540490.3 → XP_011538792.1 ubiquitin conjugation factor E4 B isoform X5

Conserved Domains (1) summary

pfam10408
Location:642 → 1162

Ufd2P_core; Ubiquitin elongating factor core
XM_011540489.4 → XP_011538791.1 ubiquitin conjugation factor E4 B isoform X4

Conserved Domains (1) summary

pfam10408
Location:642 → 1164

Ufd2P_core; Ubiquitin elongating factor core
XM_047428018.1 → XP_047283974.1 ubiquitin conjugation factor E4 B isoform X1
XM_011540488.4 → XP_011538790.1 ubiquitin conjugation factor E4 B isoform X2

UniProtKB/TrEMBL

B4E2Y2

Conserved Domains (2) summary

pfam04564
Location:1163 → 1234

U-box; U-box domain

pfam10408
Location:526 → 1146

Ufd2P_core; Ubiquitin elongating factor core
XM_017000035.3 → XP_016855524.1 ubiquitin conjugation factor E4 B isoform X3

UniProtKB/TrEMBL

B4E2Y2