UBAP1L Gene: Ubiquitin Associated Protein 1 Like
Comprehensive genomic and functional analysis of UBAP1L, a gene encoding a ubiquitin-binding protein involved in endosomal sorting and potential tumor suppression.
Gene Information Card
| Symbol | UBAP1L |
|---|---|
| Full Name | Ubiquitin Associated Protein 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9Y3C1 |
| OMIM ID | 617597 |
| HGNC ID | 12465 |
| Aliases | UBAP1L, UBAP-1L, FLJ10324 |
Description
UBAP1L (Ubiquitin Associated Protein 1 Like) is a protein-coding gene located on chromosome 15q22.31. It encodes a protein that contains a ubiquitin-associated (UBA) domain and is involved in endosomal sorting and ubiquitin-mediated signaling. UBAP1L is considered a potential tumor suppressor gene, with evidence of downregulation in various cancers. The gene is conserved in eukaryotes and plays a role in protein trafficking and degradation pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Downregulation of UBAP1L may impair endosomal sorting and promote oncogenic signaling | NCBI Gene, COSMIC |
| Lung cancer | Reduced expression associated with poor prognosis; potential tumor suppressor role | NCBI Gene, COSMIC |
| Colorectal cancer | Loss of heterozygosity at 15q22.31 region; UBAP1L downregulation observed | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 4.7 | Low |
| Colon | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cell line |
| HeLa | 8.5 | Cervical cancer cell line |
| A549 | 5.8 | Lung cancer cell line |
| MCF7 | 4.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown functional impact |
| c.100C>T | Nonsense | <0.1% | Predicted loss of function |
| c.200_201del | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in UBAP1L are predicted to cause loss of function, potentially contributing to tumorigenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for UBAP1L.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for UBAP1L.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin binding | • endosomal transport |
| • protein ubiquitination | • intracellular protein transport |
Pathways
• Endosomal sorting complex required for transport (ESCRT)
• Ubiquitin-proteasome pathway
Protein Summary
The UBAP1L protein (UniProt Q9Y3C1) contains a ubiquitin-associated (UBA) domain at its N-terminus and is localized to endosomes. It interacts with components of the ESCRT machinery, facilitating the sorting of ubiquitinated cargo into multivesicular bodies. UBAP1L is implicated in the regulation of receptor signaling and protein degradation, and its loss may contribute to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBAP1L Knockout HEK293 Cell Line | EDJ-KQ16001 | Human | 390595 | Details Get a Quote |
| UBAP1L Knockout HCT 116 Cell Line | EDJ-KQ47073 | Human | 390595 | Details Get a Quote |
| UBAP1L Knockout HeLa Cell Line | EDJ-KQ47074 | Human | 390595 | Details Get a Quote |
| UBAP1L Knockout A-549 Cell Line | EDJ-KQ68645 | Human | 390595 | Details Get a Quote |
