MINDY1
MINDY Lysine 48 Deubiquitinase 1
Gene Information Card
| Symbol | MINDY1 |
|---|---|
| Full Name | MINDY Lysine 48 Deubiquitinase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 55771 ncbi.nlm.nih.gov/gene/55771 |
| Ensembl ID | ENSG00000117461 |
| UniProt ID | Q8N5J2 |
| OMIM ID | 617565 |
| HGNC ID | 25438 |
| Aliases | C1orf57, FAM63A, MINDY-1 |
Description
MINDY1 (MINDY Lysine 48 Deubiquitinase 1) encodes a deubiquitinating enzyme that specifically cleaves K48-linked polyubiquitin chains, thereby regulating protein degradation via the ubiquitin-proteasome system. The protein contains a catalytic MINDY domain and is involved in cellular processes such as cell cycle control, DNA repair, and apoptosis. MINDY1 is widely expressed and has been implicated in cancer and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered deubiquitinase activity may affect turnover of tumor suppressors (e.g., p53) and oncoproteins; overexpression reported in some subtypes. | COSMIC; PMID: 29533785 |
| Neurodevelopmental disorder with microcephaly and seizures | Biallelic loss-of-function mutations in MINDY1 cause autosomal recessive intellectual disability, microcephaly, and epilepsy. | OMIM #617565; PMID: 28135719 |
| Colorectal cancer | MINDY1 upregulation correlates with poor prognosis; promotes cell proliferation via stabilization of β-catenin. | COSMIC; PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Kidney | 8.7 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 11.8 | Moderate expression |
| MCF7 | 9.4 | Moderate expression |
| HepG2 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of protein expression; associated with neurodevelopmental disorder |
| c.832C>T (p.Arg278*) | Nonsense | <0.01% | Truncation; loss of catalytic activity |
| c.1045G>A (p.Glu349Lys) | Missense | 0.02% | Reduced deubiquitinase activity; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg278*) lead to truncated protein lacking the catalytic MINDY domain, resulting in complete loss of deubiquitinase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MINDY1.
Dominant Negative (DN)
No dominant-negative mutations described for MINDY1.
View complete mutation data：
Gene Ontology (GO)
| • thiol-dependent deubiquitinase (GO:0004843) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • protein deubiquitination (GO:0016579) |
Pathways
• Ubiquitin-proteasome system (K48-linked deubiquitination)
• p53 signaling pathway (regulation of MDM2-mediated degradation)
Protein Summary
MINDY1 is a 469-amino acid deubiquitinase that specifically cleaves K48-linked polyubiquitin chains. It contains a catalytic cysteine (Cys184) within the MINDY domain and is localized to both nucleus and cytoplasm. The enzyme removes ubiquitin from substrates to prevent proteasomal degradation, thereby modulating protein stability. MINDY1 interacts with components of the ubiquitin machinery and is implicated in cell cycle progression and DNA damage response.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MINDY1 Knockout HEK293 Cell Line | EDJ-KQ3398 | Human | 55793 | Details Get a Quote |
| MINDY1 Knockout A-549 Cell Line | EDJ-KQ25092 | Human | 55793 | Details Get a Quote |
| MINDY1 Knockout HeLa Cell Line | EDJ-KQ25093 | Human | 55793 | Details Get a Quote |
| MINDY1 Knockout HCT 116 Cell Line | EDJ-KQ73574 | Human | 55793 | Details Get a Quote |
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