UBC Gene (Ubiquitin C): Structure, Function, and Clinical Significance
A comprehensive overview of the UBC gene, its protein product, expression patterns, associated diseases, and mutations.
Gene Information Card
| Symbol | UBC |
|---|---|
| Full Name | Ubiquitin C |
| Gene Type | protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 7316 ncbi.nlm.nih.gov/gene/7316 |
| Ensembl ID | ENSG00000150991 |
| UniProt ID | P0CG48 |
| OMIM ID | 191340 |
| HGNC ID | 12468 |
| Aliases | HMG20, ubiquitin C, polyubiquitin-C |
Description
The UBC gene encodes a polyubiquitin precursor protein. Ubiquitin is a highly conserved 76-amino acid protein that is covalently attached to target proteins to mark them for degradation via the proteasome, or to regulate their function, localization, or interactions. The UBC gene produces multiple tandem ubiquitin repeats that are cleaved into mature ubiquitin monomers. Ubiquitin-mediated proteolysis is essential for cellular homeostasis, cell cycle control, DNA repair, and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia, autosomal recessive 24 | Biallelic loss-of-function mutations in UBC lead to impaired ubiquitin production, causing neurodegeneration. | OMIM #617133; ClinVar |
| Neurodevelopmental disorder with hypotonia and seizures | De novo heterozygous missense variants in UBC disrupt ubiquitin homeostasis, affecting neuronal function. | ClinVar; PMID: 30057014 |
| Cancer (various) | Altered UBC expression or mutations may affect protein degradation pathways, contributing to tumorigenesis. | COSMIC; PMID: 26619011 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| All tissues | High (typically >50 nTPM) | Ubiquitin is ubiquitously expressed; highest levels in tissues with high protein turnover (e.g., liver, muscle). |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line; high UBC expression supports rapid proliferation. |
| HEK293 | High | Embryonic kidney cells; high expression due to active protein synthesis. |
| K562 | High | Chronic myeloid leukemia; high expression reflects metabolic activity. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.229G>A (p.Asp77Asn) | Missense | Rare (0.001%) | Dominant-negative effect; disrupts ubiquitin monomer function. |
| c.1A>G (p.Met1?) | Start codon loss | Very rare | Loss of function; reduced ubiquitin production. |
| Whole gene deletion | Copy number variant | Very rare | Loss of function; complete absence of UBC-derived ubiquitin. |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause severe ubiquitin deficiency, leading to neurodegeneration (SCAR24).
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression may contribute to cancer but not via mutation.
Dominant Negative (DN)
Heterozygous missense mutations can act as dominant-negative, interfering with ubiquitin conjugation and causing neurodevelopmental disorders.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ubiquitin protein ligase binding |
| • protein tag | • proteasome-mediated ubiquitin-dependent protein catabolic process |
| • response to stress | • cell cycle |
Pathways
• Ubiquitin-mediated proteolysis (KEGG hsa04120)
• Proteasome degradation pathway
• Autophagy pathway
• DNA damage response
Protein Summary
The UBC gene encodes a polyubiquitin precursor protein that is post-translationally processed into multiple copies of mature ubiquitin. Ubiquitin is a small, highly conserved protein that covalently attaches to lysine residues of target proteins, marking them for degradation by the 26S proteasome or altering their function. This process is fundamental to numerous cellular processes, including cell cycle progression, DNA repair, signal transduction, and stress responses. The UBC protein is expressed ubiquitously and is essential for cell viability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RUBCN Knockout HEK293 Cell Line | EDJ-KQ6708 | Human | 9711 | Details Get a Quote |
| RUBCNL Knockout HEK293 Cell Line | EDJ-KQ9475 | Human | 80183 | Details Get a Quote |
| RUBCN Knockout HCT 116 Cell Line | EDJ-KQ31072 | Human | 9711 | Details Get a Quote |
| RUBCN Knockout HeLa Cell Line | EDJ-KQ31073 | Human | 9711 | Details Get a Quote |
| RUBCN Knockout A-549 Cell Line | EDJ-KQ29719 | Human | 9711 | Details Get a Quote |
| UBC Knockout HEK293 Cell Line | EDJ-KQ50697 | Human | 7316 | Details Get a Quote |
| UBC Knockout HeLa Cell Line | EDJ-KQ54715 | Human | 7316 | Details Get a Quote |
| RUBCNL Knockout HeLa Cell Line | EDJ-KQ57306 | Human | 80183 | Details Get a Quote |
| UBC Knockout A-549 Cell Line | EDJ-KQ63205 | Human | 7316 | Details Get a Quote |
| RUBCNL Knockout A-549 Cell Line | EDJ-KQ65814 | Human | 80183 | Details Get a Quote |
| UBC Knockout HCT 116 Cell Line | EDJ-KQ71672 | Human | 7316 | Details Get a Quote |
| RUBCNL Knockout HCT 116 Cell Line | EDJ-KQ74237 | Human | 80183 | Details Get a Quote |
Displaying Records 1 To 12 Of 12 Records
