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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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UBE4A
ubiquitination factor E4A
Chromosome 11 Β· 11q23.3
NCBI Gene: 9354Ensembl: ENSG00000110344.11HGNC: HGNC:12499UniProt: Q14139
73PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytoplasmERAD pathwayubiquitin-ubiquitin ligase activityneurodevelopmental disorder with hypotonia and gross motor and speech delayNeurodevelopmental disorderIntellectual disabilityneurodegenerative disease
✦AI Summary

UBE4A (ubiquitination factor E4A) is a U-box-type E3/E4 ubiquitin ligase that catalyzes Lys-48-linked polyubiquitination of diverse protein substrates 1. As an E4 ligase, UBE4A mediates assembly of polyubiquitin chains on proteins previously ubiquitinated by other E3 ligases, functioning in the endoplasmic reticulum-associated degradation (ERAD) pathway 2. UBE4A is predominantly expressed in skeletal muscle, kidney, and liver, localizing to both nuclear and cytoplasmic compartments 1. Functionally, UBE4A regulates metabolic homeostasis and insulin signaling by catalyzing K63-linked ubiquitination of Akt and its activator APPL1, promoting insulin-induced Akt activation 3. The enzyme also ubiquitinates the transcription factor NRF1, facilitating its ERAD-mediated cleavage and enabling proteasomal gene expression 2. Additionally, UBE4A ubiquitinates PD-L1 for sorting onto tumor-derived extracellular vesicles, contributing to anti-PD-1 therapy resistance 4, and mediates apoA-I degradation in hepatocytes 5. Disease relevance is substantial: UBE4A deletion impairs insulin signaling and exacerbates obesity, hyperinsulinemia, and non-alcoholic fatty liver disease in mice 3. UBE4A is located in neuroblastoma deletion regions with identified mutations in tumor samples 6. In colorectal cancer, PTBP3-mediated stabilization of UBE4A mRNA promotes P53 degradation and cell proliferation 7. Age-dependent upregulation of UBE4A correlates with muscle proteostasis decline during aging 8.

Sources cited
1
UBE4A (ubiquitination factor E4A) is a U-box-type E3/E4 ubiquitin ligase that catalyzes Lys-48-linked polyubiquitination of diverse protein substrates .
PMID: 15019985
2
As an E4 ligase, UBE4A mediates assembly of polyubiquitin chains on proteins previously ubiquitinated by other E3 ligases, functioning in the endoplasmic reticulum-associated degradation (ERAD) pathway .
PMID: 37084817
3
Functionally, UBE4A regulates metabolic homeostasis and insulin signaling by catalyzing K63-linked ubiquitination of Akt and its activator APPL1, promoting insulin-induced Akt activation .
PMID: 37429524
4
Additionally, UBE4A ubiquitinates PD-L1 for sorting onto tumor-derived extracellular vesicles, contributing to anti-PD-1 therapy resistance , and mediates apoA-I degradation in hepatocytes .
PMID: 39842432
5
Additionally, UBE4A ubiquitinates PD-L1 for sorting onto tumor-derived extracellular vesicles, contributing to anti-PD-1 therapy resistance , and mediates apoA-I degradation in hepatocytes .
PMID: 39643078
6
UBE4A is located in neuroblastoma deletion regions with identified mutations in tumor samples .
PMID: 16386891
7
In colorectal cancer, PTBP3-mediated stabilization of UBE4A mRNA promotes P53 degradation and cell proliferation .
PMID: 35136024
8
Age-dependent upregulation of UBE4A correlates with muscle proteostasis decline during aging .
PMID: 36442857
Disease Associationsβ“˜21
neurodevelopmental disorder with hypotonia and gross motor and speech delayOpen Targets
0.65Moderate
Neurodevelopmental disorderOpen Targets
0.44Moderate
Intellectual disabilityOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.37Weak
retinitis pigmentosaOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
neoplasmOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
femoral neck fractureOpen Targets
0.07Suggestive
colitisOpen Targets
0.05Suggestive
Romano-Ward syndromeOpen Targets
0.05Suggestive
major depressive disorderOpen Targets
0.05Suggestive
Familial short QT syndromeOpen Targets
0.05Suggestive
infectionOpen Targets
0.04Suggestive
inflammatory bowel diseaseOpen Targets
0.04Suggestive
acromesomelic dysplasia 2AOpen Targets
0.04Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.04Suggestive
metaphyseal dysplasia, Braun-Tinschert typeOpen Targets
0.03Suggestive
Eiken syndromeOpen Targets
0.03Suggestive
Neurodevelopmental disorder with hypotonia and gross motor and speech delayUniProt
Pathogenic Variants8
NM_001204077.2(UBE4A):c.2412+2T>GLikely pathogenic
Retinitis pigmentosa 11
β˜…β˜†β˜†β˜†2025
NM_001204077.2(UBE4A):c.2319dup (p.Lys774Ter)Likely pathogenic
UBE4A-related neurodevelopmental disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 774
NM_001204077.2(UBE4A):c.384G>A (p.Trp128Ter)Pathogenic
Neurodevelopmental disorder with hypotonia and gross motor and speech delay
β˜…β˜†β˜†β˜†2024β†’ Residue 128
NM_001204077.2(UBE4A):c.217C>T (p.Arg73Ter)Likely pathogenic
Neurodevelopmental disorder with hypotonia and gross motor and speech delay
β˜…β˜†β˜†β˜†2023β†’ Residue 73
NM_001204077.2(UBE4A):c.1214_1215del (p.Asn405fs)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 405
NM_001204077.2(UBE4A):c.992del (p.Gly331fs)Pathogenic
UBE4A-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 331
NM_001204077.2(UBE4A):c.631C>T (p.Arg211Ter)Pathogenic
Neurodevelopmental disorder with hypotonia and gross motor and speech delay|not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 211
NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs)Pathogenic
Neurodevelopmental disorder with hypotonia and gross motor and speech delay
β˜†β˜†β˜†β˜†2024β†’ Residue 396
View on ClinVar β†—
Related Genes
UBE2D1Protein interaction100%NPLOC4Protein interaction100%NSFL1CProtein interaction100%PLAAProtein interaction99%YOD1Protein interaction99%UFD1Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Heart
55%
Bone Marrow
42%
Ovary
40%
Lung
37%
Liver
32%
Gene Interaction Network
Click a node to explore
UBE4AUBE2D1NPLOC4NSFL1CPLAAYOD1UFD1
PROTEIN STRUCTURE
Preparing viewer…
PDB1WGM Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.49Moderately Constrained
pLIβ“˜
0.90Intolerant
Observed/Expected LoF0.39 [0.30–0.49]
RankingsWhere UBE4A stands among ~20K protein-coding genes
  • #6,521of 20,598
    Most Researched73
  • #3,067of 5,498
    Most Pathogenic Variants8
  • #2,939of 17,882
    Most Constrained (LOEUF)0.49 Β· top quartile
Genes detectedUBE4A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
MFGE8 induces anti-PD-1 therapy resistance by promoting extracellular vesicle sorting of PD-L1.
PMID: 39842432
Cell Rep Med Β· 2025
1.00
2
Ube4A maintains metabolic homeostasis and facilitates insulin signaling inΒ vivo.
PMID: 37429524
Mol Metab Β· 2023
0.90
3
Loss of FoxOs in muscle increases strength and mitochondrial function during aging.
PMID: 36442857
J Cachexia Sarcopenia Muscle Β· 2023
0.80
4
Inhibiting IP6K1 confers atheroprotection by elevating circulating apolipoprotein A-I.
PMID: 39643078
Metabolism Β· 2025
0.70
5
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues.
PMID: 15019985
Gene Β· 2004
0.60