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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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JOSD1
Josephin domain containing 1
Chromosome 22 · 22q13.1
NCBI Gene: 9929Ensembl: ENSG00000100221.12HGNC: HGNC:28953UniProt: Q15040
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolmembranecysteine-type deubiquitinase activitycholelithiasishead and neck squamous cell carcinomaprostate carcinomahepatocellular carcinoma
✦AI Summary

JOSD1 (Josephin domain containing 1) is a deubiquitinating enzyme that plays critical roles in cancer progression, antiviral immunity, and cellular dynamics. The protein functions as a cysteine-type deubiquitinase with unique regulatory properties - its catalytic activity is activated by monoubiquitination, allowing it to cleave both K63-linked and K48-linked polyubiquitin chains 1. JOSD1 preferentially localizes to plasma membranes when ubiquitinated and regulates membrane dynamics, cell motility, and endocytosis by increasing macropinocytosis while suppressing clathrin- and caveolae-mediated endocytosis 1. In cancer contexts, JOSD1 acts as an oncogene by stabilizing anti-apoptotic proteins MCL-1 and Snail through deubiquitination, promoting chemoresistance in gynecological cancers 2 and epithelial-to-mesenchymal transition in lung adenocarcinoma 3. JOSD1 also negatively regulates antiviral immunity by deubiquitinating and stabilizing SOCS1, thereby inhibiting type-I interferon signaling 4. Additionally, JOSD1 can reverse ubiquitination of nucleic acids in vitro 5 and has been identified as a potential pluripotency regulator 6. High JOSD1 expression correlates with poor prognosis in multiple cancers, suggesting its potential as both a therapeutic target and diagnostic biomarker 23.

Sources cited
1
JOSD1 is activated by monoubiquitination to cleave ubiquitin chains and regulates membrane dynamics, cell motility, and endocytosis
PMID: 23625928
2
JOSD1 stabilizes MCL-1 through deubiquitination, promoting chemoresistance in gynecological cancers
PMID: 31043700
3
JOSD1 stabilizes Snail protein via deubiquitination to promote epithelial-to-mesenchymal transition in lung adenocarcinoma
PMID: 35693075
4
JOSD1 negatively regulates type-I interferon antiviral activity by deubiquitinating and stabilizing SOCS1
PMID: 28355105
5
JOSD1 can reverse ubiquitination of nucleic acids in vitro
PMID: 39242775
6
JOSD1 identified as a potential pluripotency regulator in human induced pluripotent stem cells
PMID: 39574586
Disease Associationsⓘ20
cholelithiasisOpen Targets
0.25Weak
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
prostate carcinomaOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
diverticular diseaseOpen Targets
0.05Suggestive
metabolic syndromeOpen Targets
0.05Suggestive
hypothyroidismOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.03Suggestive
gallstonesOpen Targets
0.03Suggestive
ovulationOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
autoimmune diseaseOpen Targets
0.02Suggestive
osteoarthritisOpen Targets
0.02Suggestive
Hashimoto's thyroiditisOpen Targets
0.02Suggestive
disorder of earOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
Plasmodium falciparum malariaOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
USP11Shared pathway100%USP17L23Shared pathway100%USP54Shared pathway100%JOSD2Shared pathway100%USP31Shared pathway100%OTULINLShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
45%
Lung
40%
Brain
33%
Liver
25%
Heart
22%
Gene Interaction Network
Click a node to explore
JOSD1USP11USP17L23USP54JOSD2USP31OTULINL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15040
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.66LoF Tolerant
pLIⓘ
0.60Intermediate
Observed/Expected LoF0.37 [0.21–0.66]
RankingsWhere JOSD1 stands among ~20K protein-coding genes
  • #10,024of 20,598
    Most Researched41
  • #4,833of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedJOSD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Ubiquitylation of nucleic acids by DELTEX ubiquitin E3 ligase DTX3L.
PMID: 39242775
EMBO Rep · 2024
1.00
2
A PERTURBATION CELL ATLAS OF HUMAN INDUCED PLURIPOTENT STEM CELLS.
PMID: 39574586
bioRxiv · 2024
0.90
3
JOSD1 Negatively Regulates Type-I Interferon Antiviral Activity by Deubiquitinating and Stabilizing SOCS1.
PMID: 28355105
Viral Immunol · 2017
0.80
4
Stabilization of MCL-1 by E3 ligase TRAF4 confers radioresistance.
PMID: 36535926
Cell Death Dis · 2022
0.70
5
JosD1, a membrane-targeted deubiquitinating enzyme, is activated by ubiquitination and regulates membrane dynamics, cell motility, and endocytosis.
PMID: 23625928
J Biol Chem · 2013
0.60