SUMO1 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the SUMO1 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | SUMO1 |
|---|---|
| Full Name | Small ubiquitin-like modifier 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 7341 ncbi.nlm.nih.gov/gene/7341 |
| Ensembl ID | ENSG00000116030 |
| UniProt ID | P63165 |
| OMIM ID | 601912 |
| HGNC ID | 12502 |
| Aliases | SMT3C, SMT3H3, UBL1, PIC1, GMP1, OFC10, SENP2, DAP1 |
Description
The SUMO1 gene encodes a small ubiquitin-like modifier protein that is covalently attached to target proteins in a process called SUMOylation. This post-translational modification regulates various cellular processes including nuclear transport, transcriptional regulation, apoptosis, protein stability, and stress responses. SUMO1 is involved in the modification of numerous proteins and plays a critical role in maintaining cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Orofacial cleft 10 | SUMO1 haploinsufficiency or mutations disrupt SUMOylation of key developmental proteins, affecting craniofacial development. | OMIM: 601912; ClinVar |
| Cancer (various types) | Altered SUMO1 expression affects tumor suppressor and oncogene activity, influencing cell proliferation and apoptosis. | COSMIC; PubMed |
| Neurodegenerative disorders | SUMO1 modification of proteins like tau and alpha-synuclein may affect their aggregation and toxicity. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High |
| Heart | Medium | Medium |
| Liver | Medium | Medium |
| Kidney | Medium | Medium |
| Testis | High | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line |
| HEK293 | High | Embryonic kidney cells |
| A549 | Medium | Lung carcinoma |
| MCF7 | Medium | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437A>G (p.Asn146Ser) | Missense | Rare | Potential impact on SUMOylation efficiency |
| c.1A>G (p.Met1Val) | Start codon loss | Rare | Loss of protein expression |
| c.235G>A (p.Gly79Arg) | Missense | Rare | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce SUMO1 expression or impair its ability to conjugate to targets, leading to reduced SUMOylation of downstream proteins.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Possible if mutant SUMO1 competes with wild-type for conjugation sites but fails to function properly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SUMOylation pathway
• Protein modification pathway
• p53 signaling pathway (regulation via SUMOylation)
• Wnt signaling pathway (modulation by SUMO)
Protein Summary
SUMO1 is a 101-amino acid protein that is post-translationally processed to expose a C-terminal glycine, allowing conjugation to lysine residues of target proteins via an isopeptide bond. It shares structural similarity with ubiquitin but functions distinctly. SUMO1 is involved in nuclear-cytosolic transport, transcriptional regulation, and DNA repair. Its conjugation is reversible by sentrin-specific proteases (SENPs).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUMO1 Knockout HEK293 Cell Line | EDJ-KQ50700 | Human | 7341 | Details Get a Quote |
| SUMO1 Knockout HeLa Cell Line | EDJ-KQ54718 | Human | 7341 | Details Get a Quote |
| SUMO1 Knockout A-549 Cell Line | EDJ-KQ63209 | Human | 7341 | Details Get a Quote |
| SUMO1 Knockout HCT 116 Cell Line | EDJ-KQ71675 | Human | 7341 | Details Get a Quote |
