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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HNRNPUL1
heterogeneous nuclear ribonucleoprotein U like 1
Chromosome 19 · 19q13.2
NCBI Gene: 11100Ensembl: ENSG00000105323.18HGNC: HGNC:17011UniProt: A0A0A0MRA5
261PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmenzyme bindingprotein bindingneurodegenerative diseasedengue diseasepost term pregnancycoronary artery disease
✦AI Summary

HNRNPUL1 is an RNA-binding protein that functions as a transcriptional regulator with pleiotropic roles across development and disease. Mechanistically, HNRNPUL1 controls transcription and alternative splicing through direct binding to RNA and interactions with spliceosomal proteins 1. In developmental contexts, zebrafish studies demonstrate that Hnrnpul1 regulates genes involved in translation, ubiquitination, and DNA damage, with loss-of-function resulting in skeletal defects, limb malformations, and craniofacial abnormalities 1. A homozygous frameshift variant in HNRNPUL1 was identified in human siblings with congenital limb malformations, suggesting evolutionary conservation of its developmental role 1. In hematologic malignancies, HNRNPUL1 serves as a fusion partner for MEF2D in B-cell precursor acute lymphoblastic leukemia (BCP-ALL), representing a high-risk subtype comprising 5.3% of cases lacking recurring alterations 2. MEF2D-HNRNPUL1 fusion results in enhanced transcriptional activity and HDAC9 activation, with sensitivity to histone deacetylase and PI3K inhibitors 23. The MEF2D-HNRNPUL1 fusion exhibits distinct immunophenotypes and poor clinical outcomes 23. Beyond leukemia, HNRNPUL1 regulates chemotherapy resistance in esophageal squamous cell carcinoma by controlling circular RNA MAN1A2 formation, associating with recurrence in cisplatin-treated patients 4. In cervical and lung cancers, HNRNPUL1 expression is post-transcriptionally regulated through ac4C modification and O-glycosylation, driving cancer progression 56.

Sources cited
1
Hnrnpul1 controls transcription and alternative splicing; zebrafish mutations cause skeletal and limb defects; homozygous HNRNPUL1 frameshift identified in humans with congenital limb malformations
PMID: 35325113
2
HNRNPUL1 is a fusion partner for MEF2D in BCP-ALL; MEF2D-HNRNPUL1 represents high-risk leukemia with enhanced transcriptional activity and poor outcomes
PMID: 27824051
3
MEF2D-HNRNPUL1 fusion exhibits hyperactivation of PI3K-AKT signaling and HDAC9; responsive to dual PI3K/HDAC inhibitor CUDC-907
PMID: 40695793
4
HNRNPUL1 inhibits cisplatin sensitivity in esophageal squamous cell carcinoma through regulating circMAN1A2 formation; associated with recurrence in chemotherapy-treated patients
PMID: 34688610
5
NAT10-mediated ac4C modification enhances HNRNPUL1 mRNA stability, driving cervical cancer progression
PMID: 37484809
6
GALNT14-mediated O-glycosylation of HNRNPUL1 upregulates AKR1C2 and promotes lung adenocarcinoma progression
PMID: 39426495
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
dengue diseaseOpen Targets
0.37Weak
post term pregnancyOpen Targets
0.09Suggestive
coronary artery diseaseOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.07Suggestive
cervical cancerOpen Targets
0.07Suggestive
Abnormal pupillary functionOpen Targets
0.06Suggestive
cardiovascular diseaseOpen Targets
0.05Suggestive
myocardial infarctionOpen Targets
0.04Suggestive
essential hypertensionOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
dementiaOpen Targets
0.03Suggestive
heart diseaseOpen Targets
0.03Suggestive
complex regional pain syndromeOpen Targets
0.03Suggestive
coronary atherosclerosisOpen Targets
0.03Suggestive
renal cell carcinomaOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
macular degenerationOpen Targets
0.02Suggestive
degeneration of macula and posterior poleOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NUP62Protein interaction100%SF1Protein interaction100%NXT1Protein interaction99%EWSR1Protein interaction90%RAE1Protein interaction90%HNRNPH1Protein interaction89%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
85%
Ovary
80%
Lung
70%
Heart
66%
Liver
37%
Gene Interaction Network
Click a node to explore
HNRNPUL1NUP62SF1NXT1EWSR1RAE1HNRNPH1
PROTEIN STRUCTURE
Preparing viewer…
PDB1ZRJ · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.20Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.12 [0.08–0.20]
RankingsWhere HNRNPUL1 stands among ~20K protein-coding genes
  • #1,449of 20,598
    Most Researched261 · top 10%
  • #450of 17,882
    Most Constrained (LOEUF)0.20 · top 5%
Genes detectedHNRNPUL1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia.
PMID: 27824051
Nat Commun · 2016
1.00
2
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo.
PMID: 35325113
G3 (Bethesda) · 2022
0.90
3
Non-canonical proline-tyrosine interactions with multiple host proteins regulate Ebola virus infection.
PMID: 34260076
EMBO J · 2021
0.84
4
The Molecular and Biological Function of MEF2D in Leukemia.
PMID: 39017853
Adv Exp Med Biol · 2024
0.80
5
Integrative multi-omics and drug response profiling of childhood acute lymphoblastic leukemia cell lines.
PMID: 35354797
Nat Commun · 2022
0.70