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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SIAH3
siah E3 ubiquitin protein ligase family member 3
Chromosome 13 · 13q14.13
NCBI Gene: 283514Ensembl: ENSG00000215475.5HGNC: HGNC:30553UniProt: Q8IW03
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of protein stabilityprotein bindingnegative regulation of protein localization to mitochondrionmitochondrionsmoking initiationHodgkins lymphomaplacental retentiongastrointestinal disease
✦AI Summary

SIAH3 (siah E3 ubiquitin protein ligase family member 3) functions as a negative regulator of mitochondrial quality control and cellular metabolism. Unlike other SIAH family members, SIAH3 lacks ubiquitin ligase activity but plays crucial roles in mitochondrial homeostasis 1. The protein negatively regulates PINK1-mediated mitophagy by directly interacting with PINK1 and promoting its intra-mitochondrial aggregation, thereby preventing the elimination of dysfunctional mitochondria 1. SIAH3 is localized to mitochondria and interacts with proteins involved in mitochondrial ribosome biogenesis and translation 2. Functionally, SIAH3 shifts cellular metabolism from oxidative phosphorylation to glycolysis 2. The protein acts as a physiological mitophagy suppressor that facilitates axonal degeneration during development by forming complexes with parkin and preventing mitophagy activation 3. SIAH3 is frequently epigenetically silenced in various cancers, where it functions as a tumor suppressor 2. In disease contexts, SIAH3 is upregulated in Parkinson's disease brains and chr13 kidney disease, contributing to pathology through impaired mitochondrial clearance 14. Additionally, genetic variants in SIAH3 are associated with increased ventricular enlargement rates in neurodegenerative diseases 5.

Sources cited
1
SIAH3 directly interacts with PINK1, lacks ubiquitin ligase activity, and promotes intra-mitochondrial aggregation leading to mitochondrial dysfunction in Parkinson's disease
PMID: 36307912
2
SIAH3 is localized to mitochondria, interacts with mitochondrial ribosome proteins, shifts metabolism to glycolysis, and is epigenetically silenced in cancers as a tumor suppressor
PMID: 39344659
3
SIAH3 acts as a physiological mitophagy suppressor that facilitates axonal degeneration by forming complexes with parkin
PMID: 39378286
4
SIAH3 is upregulated in chronic kidney disease and reduces PINK1 accumulation to damaged mitochondria
PMID: 34359852
5
Genetic variants in SIAH3 are associated with increased ventricular enlargement rates in neurodegenerative diseases
PMID: 31711042
Disease Associationsⓘ20
smoking initiationOpen Targets
0.33Weak
Hodgkins lymphomaOpen Targets
0.30Weak
placental retentionOpen Targets
0.29Weak
gastrointestinal diseaseOpen Targets
0.27Weak
response to stimulusOpen Targets
0.12Weak
upper respiratory tract disorderOpen Targets
0.10Weak
Myasthenia gravisOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
Parkinson diseaseOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
renal dialysisOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
chronic kidney diseaseOpen Targets
0.04Suggestive
benign digestive system neoplasmOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
liver diseaseOpen Targets
0.02Suggestive
melanomaOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPSB1Shared pathway50%KLHL8Shared pathway50%PSMF1Shared pathway40%RNF128Shared pathway40%SPSB2Shared pathway40%KLHL15Shared pathway40%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
81%
Ovary
2%
Lung
2%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
SIAH3SPSB1KLHL8PSMF1RNF128SPSB2KLHL15
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IW03
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.68 [0.43–1.13]
RankingsWhere SIAH3 stands among ~20K protein-coding genes
  • #16,293of 20,598
    Most Researched13
  • #11,643of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedSIAH3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
1.00
2
SIAH3 is frequently epigenetically silenced in cancer and regulates mitochondrial metabolism.
PMID: 39344659
Int J Cancer · 2025
0.90
3
SIAH proteins regulate the degradation and intra-mitochondrial aggregation of PINK1: Implications for mitochondrial pathology in Parkinson's disease.
PMID: 36307912
Aging Cell · 2022
0.80
4
Melatonin Treatment Improves Renal Fibrosis via miR-4516/SIAH3/PINK1 Axis.
PMID: 34359852
Cells · 2021
0.70
5
Siah3 acts as a physiological mitophagy suppressor that facilitates axonal degeneration.
PMID: 39378286
Sci Signal · 2024
0.60