HNRNPUL1 Gene - Heterogeneous Nuclear Ribonucleoprotein U Like 1
A comprehensive resource for HNRNPUL1 gene function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | HNRNPUL1 |
|---|---|
| Full Name | Heterogeneous Nuclear Ribonucleoprotein U Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 11100 ncbi.nlm.nih.gov/gene/11100 |
| Ensembl ID | ENSG00000105323 |
| UniProt ID | Q9BUJ2 |
| OMIM ID | 605129 |
| HGNC ID | 5038 |
| Aliases | E1B-AP5, HNRPUL1, FLJ12409 |
Description
HNRNPUL1 (Heterogeneous Nuclear Ribonucleoprotein U Like 1) is a protein-coding gene located on chromosome 19q13.2. It encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) family, which is involved in pre-mRNA processing, transport, and metabolism. The protein interacts with adenovirus E1B-55kDa protein and may play a role in viral replication and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Adenovirus infection | Interaction with E1B-55kDa protein facilitates viral replication | PMID: 10523660 |
| Cancer (general) | Altered expression linked to tumorigenesis; potential role in RNA splicing dysregulation | PMID: 23431136 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 11.2 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 7.5 | Low |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | High expression |
| HeLa | 10.1 | Medium expression |
| K562 | 8.4 | Medium expression |
| A549 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional effect |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567_568insA) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • Nucleus (GO:0005634) |
| • Pre-mRNA processing (GO:0006397) | • mRNA splicing (GO:0000398) |
| • Protein binding (GO:0005515) |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
The HNRNPUL1 protein (UniProt Q9BUJ2) is a 856-amino acid RNA-binding protein localized predominantly in the nucleus. It contains an RNA recognition motif (RRM) and a glycine-rich region, enabling interactions with RNA and other hnRNPs. The protein is involved in pre-mRNA splicing, nuclear retention of defective RNAs, and modulation of viral gene expression through interaction with adenoviral E1B-55kDa protein.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HNRNPUL1 Knockout HEK293 Cell Line | EDJ-KQ2145 | Human | 11100 | Details Get a Quote |
| HNRNPUL1 Knockout A-549 Cell Line | EDJ-KQ22319 | Human | 11100 | Details Get a Quote |
| HNRNPUL1 Knockout HCT 116 Cell Line | EDJ-KQ22320 | Human | 11100 | Details Get a Quote |
| HNRNPUL1 Knockout HeLa Cell Line | EDJ-KQ22321 | Human | 11100 | Details Get a Quote |
