UBAP2L Gene (Ubiquitin Associated Protein 2 Like)
A comprehensive resource on UBAP2L: genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | UBAP2L |
|---|---|
| Full Name | Ubiquitin Associated Protein 2 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 9898 ncbi.nlm.nih.gov/gene/9898 |
| Ensembl ID | ENSG00000143569 |
| UniProt ID | Q14157 |
| OMIM ID | 616472 |
| HGNC ID | 12463 |
| Aliases | NICE-4, NIP30, C1orf173 |
Description
UBAP2L (Ubiquitin Associated Protein 2 Like) is a protein-coding gene located on chromosome 1q21.3. It encodes a protein that contains a ubiquitin-associated (UBA) domain and is involved in ubiquitin-mediated signaling, cell cycle regulation, and stress granule formation. UBAP2L is implicated in various cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression promotes cell proliferation and invasion; potential oncogenic role | COSMIC, NCBI |
| Neurodegenerative diseases | Involved in stress granule dynamics; dysregulation linked to ALS and related pathologies | UniProt, PubMed |
| Developmental disorders | Rare variants reported in patients with intellectual disability; limited evidence | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 22.3 | High |
| Lymph node | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.0 | Embryonic kidney; high expression |
| HeLa | 20.5 | Cervical carcinoma; moderate-high |
| K562 | 18.2 | Leukemia; moderate |
| HepG2 | 15.3 | Hepatocellular carcinoma; moderate |
| A549 | 12.8 | Lung carcinoma; moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; reported in cancer samples (COSMIC) |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% | Unknown significance; found in breast cancer |
| c.890_891insA | Frameshift | <0.1% | Predicted loss of function; rare in population |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein; observed in cancer cell lines.
Gain of Function (GOF)
Not well characterized; overexpression in tumors suggests potential oncogenic gain-of-function.
Dominant Negative (DN)
No evidence for dominant-negative effects currently reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin binding (GO:0043130) | • protein binding (GO:0005515) |
| • stress granule assembly (GO:0034063) | • cell cycle regulation (GO:0051726) |
Pathways
• Ubiquitin-proteasome pathway
• Stress granule signaling
• Cell cycle - G1/S transition
Protein Summary
The UBAP2L protein (UniProt Q14157) is a 1047-amino acid polypeptide containing an N-terminal ubiquitin-associated (UBA) domain. It localizes to the cytoplasm and nucleus, participates in ubiquitin-dependent signaling, and is essential for stress granule formation. UBAP2L interacts with multiple proteins involved in cell cycle control and RNA metabolism. Its overexpression is linked to poor prognosis in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBAP2L Knockout HEK293 Cell Line | EDJ-KQ6804 | Human | 9898 | Details Get a Quote |
| UBAP2L Knockout A-549 Cell Line | EDJ-KQ29949 | Human | 9898 | Details Get a Quote |
| UBAP2L Knockout HCT 116 Cell Line | EDJ-KQ31306 | Human | 9898 | Details Get a Quote |
| UBAP2L Knockout HeLa Cell Line | EDJ-KQ31307 | Human | 9898 | Details Get a Quote |
