UBTD1: Ubiquitin Domain-Containing Protein 1
A gene encoding a protein involved in ubiquitin-related processes and potential tumor suppression.
Gene Information Card
| Symbol | UBTD1 |
|---|---|
| Full Name | Ubiquitin Domain-Containing Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 80019 ncbi.nlm.nih.gov/gene/80019 |
| Ensembl ID | ENSG00000165801 |
| UniProt ID | Q9HAC8 |
| OMIM ID | 615656 |
| HGNC ID | 25622 |
| Aliases | MGC13170, dJ1181N3.1 |
Description
UBTD1 (Ubiquitin Domain-Containing Protein 1) is a protein-coding gene located on chromosome 10q24.31. The encoded protein contains a ubiquitin-like domain and is implicated in ubiquitin-dependent processes, including protein degradation and signal transduction. UBTD1 has been studied for its potential role in tumor suppression and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect ubiquitin-mediated degradation of oncoproteins; potential tumor suppressor role. | COSMIC; literature (PMID: 25691885) |
| No specific Mendelian disease association | Not currently linked to a monogenic disorder in OMIM. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Medium |
| Adrenal gland | 7.1 | Medium |
| Lymph node | 6.8 | Medium |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney; moderate expression |
| HeLa | 8.5 | Cervical carcinoma; moderate expression |
| K562 | 6.2 | Leukemia; low expression |
| A549 | 5.9 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% (gnomAD) | Unknown functional effect; rare population variant |
| c.454G>A (p.Val152Met) | Missense | <0.01% (gnomAD) | Unknown functional effect; rare population variant |
| c.1A>G (p.Met1?) | Start loss | <0.01% (gnomAD) | Likely loss of function; predicted to abolish translation |
Mutation functional classification
Loss of Function (LOF)
Start loss variant (p.Met1?) likely leads to loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin-proteasome pathway (Reactome: R-HSA-983168)
• Protein ubiquitination (KEGG: map04120)
Protein Summary
UBTD1 is a 305-amino acid protein containing a ubiquitin-like domain at its N-terminus. It localizes to the nucleus and cytoplasm and participates in ubiquitin-dependent protein degradation. The protein may interact with components of the proteasome and modulate cellular stress responses. Its exact biological function remains under investigation, but it is thought to play a role in maintaining protein homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBTD1 Knockout HEK293 Cell Line | EDJ-KQ9427 | Human | 80019 | Details Get a Quote |
| UBTD1 Knockout A-549 Cell Line | EDJ-KQ36087 | Human | 80019 | Details Get a Quote |
| UBTD1 Knockout HCT 116 Cell Line | EDJ-KQ36088 | Human | 80019 | Details Get a Quote |
| UBTD1 Knockout HeLa Cell Line | EDJ-KQ36089 | Human | 80019 | Details Get a Quote |
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