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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ISOC1
isochorismatase domain containing 1
Chromosome 5 · 5q23.3
NCBI Gene: 51015Ensembl: ENSG00000066583.13HGNC: HGNC:24254UniProt: Q96CN7
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmperoxisomeAbnormality of the skeletal systembilirubin metabolism diseasediabetic ketoacidosiscervical carcinoma
✦AI Summary

ISOC1 (isochorismatase domain-containing 1) is a cytoplasmic and peroxisomal protein with emerging roles in both cancer and immune metabolism. The precise metabolic function of ISOC1 remains incompletely characterized 1, though it contains an isochorismatase domain suggesting involvement in metabolic pathways. In cancer biology, ISOC1 exhibits context-dependent functions. It acts as an oncogene in colorectal, pancreatic, and gastric cancers, where increased expression correlates with larger tumors, advanced TNM stage, and shorter disease-free survival 123. ISOC1 knockdown suppresses cancer cell proliferation, migration, and induces apoptosis through the AKT/GSK-3β pathway in colorectal cancer 1 and promotes caspase-3/7-mediated apoptosis in pancreatic cancer 2. In gastric cancer, ISOC1 positively regulates CDK19 to drive proliferation 3. Conversely, ISOC1 functions as a tumor suppressor in hepatocellular carcinoma, where low expression associates with poor prognosis 4. In immune cells, ISOC1 supports Th1* memory T cell effector functions by regulating pyrimidine metabolism, with ISOC1 depletion impairing oxidative phosphorylation, glycolysis, and IFN-γ/IL-17 production 5. Additionally, ISOC1 plasma levels show bidirectional causal relationships with urticaria risk 6 and emerge as key nodes in sarcopenia-associated protein networks 7.

Sources cited
1
ISOC1 is upregulated in colorectal cancer, promotes proliferation and migration through AKT/GSK-3β pathway, and correlates with poor prognosis
PMID: 31740942
2
ISOC1 regulates pyrimidine metabolism and supports IFN-γ and IL-17 production in Th1* memory T cells
PMID: 33547171
3
ISOC1 functions as a tumor suppressor in hepatocellular carcinoma with low expression associated with poor prognosis
PMID: 34846160
4
ISOC1 knockdown suppresses pancreatic cancer cell proliferation and promotes caspase-3/7-mediated apoptosis
PMID: 30944620
5
ISOC1 plasma levels show bidirectional causal relationships with urticaria risk
PMID: 39961865
6
ISOC1 emerges as a key node in sarcopenia-associated plasma protein networks
PMID: 40009978
7
ISOC1 is upregulated in gastric cancer and positively regulates CDK19 to promote cell proliferation
PMID: 33275227
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.20Weak
bilirubin metabolism diseaseOpen Targets
0.14Weak
diabetic ketoacidosisOpen Targets
0.13Weak
cervical carcinomaOpen Targets
0.13Weak
neoplasmOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
cardiac arrhythmiaOpen Targets
0.04Suggestive
exostosisOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
total hip arthroplastyOpen Targets
0.04Suggestive
in situ carcinomaOpen Targets
0.04Suggestive
diaphragm diseaseOpen Targets
0.04Suggestive
osteoarthritis, hipOpen Targets
0.04Suggestive
ovarian neoplasmOpen Targets
0.04Suggestive
congenital right-sided heart lesionsOpen Targets
0.04Suggestive
bile duct disorderOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OPLAHProtein interaction75%NAPRTProtein interaction73%MROH6Protein interaction73%
Tissue Expression6 tissues
Heart
100%
Liver
82%
Brain
25%
Bone Marrow
24%
Ovary
20%
Lung
13%
Gene Interaction Network
Click a node to explore
ISOC1OPLAHNAPRTMROH6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96CN7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.72–1.36]
RankingsWhere ISOC1 stands among ~20K protein-coding genes
  • #10,022of 20,598
    Most Researched41
  • #14,187of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedISOC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Knockdown of ISOC1 inhibits the proliferation and migration and induces the apoptosis of colon cancer cells through the AKT/GSK-3β pathway.
PMID: 31740942
Carcinogenesis · 2020
1.00
2
Functional Analysis of Immune Signature Genes in Th1* Memory Cells Links ISOC1 and Pyrimidine Metabolism to IFN-γ and IL-17 Production.
PMID: 33547171
J Immunol · 2021
0.90
3
ISOC1 is a novel potential tumor suppressor in hepatocellular carcinoma.
PMID: 34846160
Neoplasma · 2022
0.80
4
Knockdown of ISOC1 suppresses cell proliferation in pancreatic cancer
PMID: 30944620
Oncol Lett · 2019
0.70
5
Bidirectional Mendelian Randomization identifies plasma proteins associated with urticaria risk.
PMID: 39961865
Arch Dermatol Res · 2025
0.60