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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MINDY1
MINDY lysine 48 deubiquitinase 1
Chromosome 1 · 1q21.3
NCBI Gene: 55793Ensembl: ENSG00000143409.19HGNC: HGNC:25648UniProt: Q8N5J2
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
K48-linked polyubiquitin modification-dependent protein bindingprotein bindingcysteine-type carboxypeptidase activityK48-linked deubiquitinase activitytype 2 diabetes mellitusdiabetes mellitushepatocellular carcinomabreast cancer
✦AI Summary

MINDY1 (MINDY lysine 48 deubiquitinase 1) is a K48-linked polyubiquitin-specific deubiquitinase that regulates protein stability and cellular signaling pathways. The enzyme demonstrates exquisite specificity for cleaving K48-linked polyubiquitin chains through a non-canonical catalytic triad composed of Cys-His-Thr, with activity regulated by a Cys-loop autoinhibition mechanism that is relieved upon substrate binding 1. MINDY1 contains five distinct ubiquitin binding sites that enable it to sense both chain length and linkage type, with preference for longer polyubiquitin chains 1. The protein plays critical roles in multiple physiological processes, including embryonic stem cell self-renewal through polyamine-dependent regulation and prenylation-dependent mechanisms 2. In metabolic regulation, MINDY1 S441 serves as an AKT substrate involved in insulin signaling, where knockdown enhances insulin-stimulated glucose uptake 3. Clinically, MINDY1 has significant implications in cancer biology, where it stabilizes estrogen receptor α (ERα) in breast cancer cells through deubiquitination, promoting tumor proliferation 4, and facilitates immune escape in hepatocellular carcinoma by deubiquitinating PD-L1 via Wnt/β-catenin pathway activation 5. Additionally, genetic variants in MINDY1 are associated with exceptional responses to CDK4/6 inhibitor therapy in ER-positive breast cancer 6.

Sources cited
1
MINDY1 has specificity for K48-linked polyubiquitin chains and uses a non-canonical Cys-His-Thr catalytic triad with Cys-loop autoinhibition
PMID: 34529927
2
MINDY1 promotes embryonic stem cell self-renewal through polyamine-dependent regulation and requires prenylation
PMID: 29644784
3
MINDY1 S441 is an AKT substrate and its knockdown enhances insulin-stimulated glucose uptake
PMID: 39577414
4
MINDY1 stabilizes estrogen receptor α through deubiquitination in breast cancer
PMID: 34645792
5
MINDY1 promotes immune escape in hepatocellular carcinoma by deubiquitinating PD-L1 via Wnt/β-catenin pathway
PMID: 41179305
6
MINDY1 genetic variants are associated with exceptional response to CDK4/6 inhibitor therapy in ER-positive breast cancer
PMID: 41449800
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.44Moderate
diabetes mellitusOpen Targets
0.41Moderate
hepatocellular carcinomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
skin neoplasmOpen Targets
0.08Suggestive
urinary bladder carcinomaOpen Targets
0.08Suggestive
chronic rhinosinusitis with nasal polypsOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
hypothyroidismOpen Targets
0.06Suggestive
liver cancerOpen Targets
0.06Suggestive
prostate carcinomaOpen Targets
0.05Suggestive
keratinocyte carcinomaOpen Targets
0.05Suggestive
basal cell carcinomaOpen Targets
0.04Suggestive
squamous cell carcinomaOpen Targets
0.03Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.03Suggestive
intestinal hypomagnesemia 1Open Targets
0.03Suggestive
Primary hypomagnesemia with secondary hypocalcemiaOpen Targets
0.03Suggestive
chronic kidney diseaseOpen Targets
0.03Suggestive
Familial isolated hypoparathyroidismOpen Targets
0.03Suggestive
glaucomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBA52Protein interaction100%UBBProtein interaction100%UBCProtein interaction100%SLC13A5Protein interaction79%
Tissue Expression6 tissues
Heart
100%
Brain
54%
Ovary
51%
Liver
45%
Lung
33%
Bone Marrow
18%
Gene Interaction Network
Click a node to explore
MINDY1UBA52UBBUBCSLC13A5
PROTEIN STRUCTURE
Preparing viewer…
PDB5MN9 · 2.05 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.71–1.12]
RankingsWhere MINDY1 stands among ~20K protein-coding genes
  • #11,967of 20,598
    Most Researched30
  • #11,591of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedMINDY1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Personalized phosphoproteomics of skeletal muscle insulin resistance and exercise links MINDY1 to insulin action.
PMID: 39577414
Cell Metab · 2024
1.00
2
Mechanism of activation and regulation of deubiquitinase activity in MINDY1 and MINDY2.
PMID: 34529927
Mol Cell · 2021
0.90
3
MINDY1 Induces PD-L1 Deubiquitination to Promote Immune Escape in Hepatocellular Carcinoma by the Wnt/β-Catenin Pathway.
PMID: 41179305
Oncol Res · 2025
0.80
4
The human longevity gene homolog INDY and interleukin-6 interact in hepatic lipid metabolism.
PMID: 28133767
Hepatology · 2017
0.70
5
MINDY1 Is a Downstream Target of the Polyamines and Promotes Embryonic Stem Cell Self-Renewal.
PMID: 29644784
Stem Cells · 2018
0.60