FUNDC1 (FUN14 Domain Containing 1)
Mitochondrial receptor for hypoxia-induced mitophagy
Gene Information Card
| Symbol | FUNDC1 |
|---|---|
| Full Name | FUN14 Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 139341 ncbi.nlm.nih.gov/gene/139341 |
| Ensembl ID | ENSG00000169564 |
| UniProt ID | Q8IVP5 |
| OMIM ID | 300957 |
| HGNC ID | 28973 |
| Aliases | FUN14, HIG-1, PP936, FLJ20643 |
Description
FUNDC1 is a mitochondrial outer membrane protein that functions as a receptor for hypoxia-induced mitophagy. It contains a conserved FUN14 domain and interacts with LC3 to mediate selective autophagic clearance of damaged mitochondria under hypoxic conditions. FUNDC1 is also implicated in mitochondrial dynamics, apoptosis, and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Impaired FUNDC1-mediated mitophagy leads to accumulation of dysfunctional mitochondria in cardiomyocytes | PMID: 22898772 |
| Cancer | Dysregulation of FUNDC1 expression alters mitochondrial turnover and promotes tumor cell survival under hypoxia | PMID: 31073084 |
| Neurodegenerative disorders | Defective mitophagy via FUNDC1 contributes to mitochondrial dysfunction in neurons | PMID: 31582847 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Skeletal muscle | 15.1 | High |
| Brain | 6.2 | Low |
| Kidney | 9.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | High expression |
| HEK293 | 11.8 | Moderate expression |
| H9c2 | 16.5 | Cardiomyocyte model |
| SH-SY5Y | 7.3 | Neuronal cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Reduced protein stability |
| c.100C>T | Nonsense | 0.005% | Premature truncation, loss of function |
| c.200_201insA | Frameshift | 0.002% | Loss of mitophagy receptor activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in FUNDC1 impair its ability to bind LC3 and initiate mitophagy, leading to mitochondrial accumulation.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • autophagy (GO:0006914) |
| • macroautophagy (GO:0016236) | • mitochondrial membrane (GO:0031966) |
| • identical protein binding (GO:0042802) | • mitophagy (GO:1903146) |
Pathways
• Mitophagy - animal (R-HSA-5205647)
• Autophagy (KEGG hsa04140)
• Hypoxia-induced mitophagy (PMID: 22898772)
Protein Summary
FUNDC1 is a 155-amino acid mitochondrial outer membrane protein with a single transmembrane domain and a conserved FUN14 domain. Under hypoxia, FUNDC1 is dephosphorylated at Ser13, enhancing its interaction with LC3 to recruit autophagosomes for selective mitochondrial degradation. It also interacts with DNM1L/DRP1 to regulate mitochondrial fission. FUNDC1 is essential for maintaining mitochondrial quality control and cellular homeostasis under stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FUNDC1 Knockout HEK293 Cell Line | EDJ-KQ9541 | Human | 139341 | Details Get a Quote |
| FUNDC1 Knockout A-549 Cell Line | EDJ-KQ36330 | Human | 139341 | Details Get a Quote |
| FUNDC1 Knockout HCT 116 Cell Line | EDJ-KQ36331 | Human | 139341 | Details Get a Quote |
| FUNDC1 Knockout HeLa Cell Line | EDJ-KQ36332 | Human | 139341 | Details Get a Quote |
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