| Gene Information | |
|---|---|
| Gene Name | MAXER |
| Organism | Homo sapiens (Human) |
| Gene Length | 794 |
| Protein Names | E3 UFM1-protein ligase 1 (EC 2.3.2.-) (E3 UFM1-protein transferase 1) (Multiple alpha-helix protein located at ER) (Novel LZAP-binding protein) (Regulator of C53/LZAP and DDRGK1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O94874 |
| Gene Card | UFL1 |
| Uniprot ID | O94874 |
| Pfam | PF09743 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Ubiquitously expressed, with a high expression in liver (at protein level) (PubMed:20018847). Low expression in several invasive hepatocellular carcinomas, such Hep-G2, Hep 3B2.1-7, HLE and PLC (PubMed:20018847). {ECO:0000269|PubMed:20018847}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.003847(Rat);0.066667(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs28372909 |
| Subcellular location [CC] | Endoplasmic reticulum membrane {ECO:0000269|PubMed:20018847, ECO:0000269|PubMed:20164180, ECO:0000269|PubMed:20228063, ECO:0000269|PubMed:32160526}. Cytoplasm, cytosol {ECO:0000269|PubMed:20228063, ECO:0000269|PubMed:30886146}. Nucleus {ECO:0000269|PubMed:30886146}. Chromosome {ECO:0000269|PubMed:30886146}. Note=Recruited to double-strand breaks by the MRE11-RAD50-NBN (MRN) complex following DNA damage. {ECO:0000269|PubMed:30886146}. |
| Mouse PG classification | NA |
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