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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ISM1
isthmin 1
Chromosome 20 · 20p12.1
NCBI Gene: 140862Ensembl: ENSG00000101230.6HGNC: HGNC:16213UniProt: B1AKI9
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of angiogenesisextracellular regioncervical carcinomaneurodegenerative diseaseAlzheimer diseasestricture or kinking of ureter
✦AI Summary

ISM1 (isthmin 1) is a secreted protein with diverse physiological roles extending beyond its canonical anti-angiogenic function. In the lung, ISM1 functions as a critical anti-inflammatory mediator that maintains homeostasis by selectively inducing apoptosis of pro-inflammatory alveolar macrophages expressing high levels of cell-surface GRP78 1. ISM1 deficiency leads to spontaneous emphysema and COPD-like pathology, while recombinant ISM1 delivery suppresses lipopolysaccharide-induced acute lung injury and post-injury fibrosis through NF-κB inhibition 2. In allergic asthma, ISM1 attenuates airway inflammation by stimulating adiponectin expression and promoting alveolar macrophage efferocytosis 3. Beyond pulmonary function, ISM1 protects against cardiac ischemia/reperfusion injury via the cGMP-PKG signaling pathway 4 and regulates glucose and lipid metabolism independent of insulin 5. However, ISM1 displays context-dependent oncogenic properties in colorectal cancer, where it enhances proliferation and metastasis through EGFR activation and YBX1-mediated transcriptional regulation 6. In white adipose tissue, ISM1 derived from stem/progenitor cells impairs adipocyte differentiation and amplifies inflammatory responses 7. ISM1 secretion is regulated by C-mannosylation in its thrombospondin type 1 repeat domain 8. These findings establish ISM1 as a multifunctional protein with significant therapeutic potential in respiratory and cardiac diseases, though its role in cancer requires careful consideration.

Sources cited
1
ISM1 triggers apoptosis of cell-surface GRP78-positive alveolar macrophages to maintain lung homeostasis; ISM1 deficiency causes emphysema and COPD-like pathology
PMID: 35046017
2
ISM1 suppresses LPS-induced acute lung injury and post-injury lung fibrosis through NF-κB inhibition
PMID: 35752760
3
ISM1 attenuates allergic asthma by stimulating adiponectin expression and enhancing alveolar macrophage efferocytosis
PMID: 37932719
4
ISM1 protects against cardiac ischemia/reperfusion injury through cGMP-PKG signaling pathway via αvβ5 integrin
PMID: 38637328
5
ISM1 regulates growth, development, glucose/lipid metabolism, and has anti-angiogenic and pro-apoptotic roles in cancer
PMID: 36995541
6
ISM1 is overexpressed in colorectal cancer and promotes proliferation, migration, and invasion through EGFR activation and YBX1 interaction
PMID: 38593920
7
ISM1 is expressed in white adipose tissue stem/progenitor cells, impairs adipocyte differentiation, and enhances inflammatory responses
PMID: 40051329
8
ISM1 undergoes C-mannosylation in its thrombospondin type 1 repeat domain, which regulates its secretion and N-glycosylation
PMID: 33412225
Disease Associationsⓘ20
cervical carcinomaOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.21Weak
stricture or kinking of ureterOpen Targets
0.19Weak
type 2 diabetes mellitusOpen Targets
0.12Weak
alcohol drinkingOpen Targets
0.12Weak
ankylosing spondylitisOpen Targets
0.11Weak
ovarian dysfunctionOpen Targets
0.11Weak
MODYOpen Targets
0.10Weak
type 1 diabetes mellitusOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
emphysemaOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
obesityOpen Targets
0.08Suggestive
rheumatoid arthritisOpen Targets
0.07Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
diabetes mellitus, transient neonatal, 2Open Targets
0.07Suggestive
maturity-onset diabetes of the young type 4Open Targets
0.07Suggestive
maturity-onset diabetes of the young type 6Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPTLC1Protein interaction83%GTF2IShared pathway50%TNMDShared pathway50%NAXEShared pathway33%ECSCRShared pathway33%THBS2Shared pathway25%
Tissue Expression6 tissues
Liver
100%
Lung
60%
Heart
39%
Brain
28%
Bone Marrow
8%
Ovary
5%
Gene Interaction Network
Click a node to explore
ISM1SPTLC1GTF2ITNMDNAXEECSCRTHBS2
PROTEIN STRUCTURE
Preparing viewer…
PDB9C6T · 3.41 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.42–0.82]
RankingsWhere ISM1 stands among ~20K protein-coding genes
  • #13,210of 20,598
    Most Researched24
  • #6,914of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedISM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ISM1 protects lung homeostasis via cell-surface GRP78-mediated alveolar macrophage apoptosis.
PMID: 35046017
Proc Natl Acad Sci U S A · 2022
1.00
2
ISM1 suppresses LPS-induced acute lung injury and post-injury lung fibrosis in mice.
PMID: 35752760
Mol Med · 2022
0.90
3
Isthmin-1 alleviates cardiac ischaemia/reperfusion injury through cGMP-PKG signalling pathway.
PMID: 38637328
Cardiovasc Res · 2024
0.80
4
Advances in research of biological functions of Isthmin-1.
PMID: 36995541
J Cell Commun Signal · 2023
0.70
5
Isthmin-1 attenuates allergic Asthma by stimulating adiponectin expression and alveolar macrophage efferocytosis in mice.
PMID: 37932719
Respir Res · 2023
0.60