SERAC1 Gene
Serine Active Site Containing 1
Gene Information Card
| Symbol | SERAC1 |
|---|---|
| Full Name | Serine Active Site Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 84947 ncbi.nlm.nih.gov/gene/84947 |
| Ensembl ID | ENSG00000122335 |
| UniProt ID | Q96JX3 |
| OMIM ID | 614725 |
| HGNC ID | 21033 |
| Aliases | MEGDEL, MGC45474, dJ402H5.2 |
Description
SERAC1 (serine active site containing 1) is a protein-coding gene located on chromosome 6q25.3. The encoded protein is a mitochondrial protein involved in phosphatidylglycerol remodeling and mitochondrial function. Mutations in SERAC1 cause MEGDEL syndrome (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome), an autosomal recessive disorder characterized by 3-methylglutaconic aciduria, sensorineural deafness, encephalopathy, and Leigh-like brain lesions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| MEGDEL syndrome | Loss of function mutations impair phosphatidylglycerol remodeling, leading to mitochondrial dysfunction and 3-methylglutaconic aciduria | OMIM #614739 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | Same as above | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 nTPM | Medium |
| Kidney | 10.2 nTPM | Medium |
| Brain | 8.1 nTPM | Low |
| Heart | 7.3 nTPM | Low |
| Skeletal muscle | 6.9 nTPM | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 nTPM | Hepatocellular carcinoma |
| HEK 293 | 11.5 nTPM | Embryonic kidney |
| SH-SY5Y | 9.8 nTPM | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.155C>T (p.Pro52Leu) | Missense | Rare | Impaired protein function |
| c.466C>T (p.Arg156*) | Nonsense | Rare | Premature stop, loss of function |
| c.1079G>A (p.Arg360Gln) | Missense | Rare | Reduced enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Most SERAC1 mutations are loss-of-function, leading to reduced or absent protein activity, causing MEGDEL syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrion | • Phosphatidylglycerol remodeling |
| • Lipid metabolism | • Serine-type endopeptidase activity |
Pathways
• Phosphatidylglycerol biosynthesis
• Mitochondrial lipid metabolism
Protein Summary
SERAC1 is a mitochondrial protein with serine active site that functions in phosphatidylglycerol remodeling, essential for mitochondrial membrane integrity and function. Defects cause MEGDEL syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERAC1 Knockout HEK293 Cell Line | EDJ-KQ10275 | Human | 84947 | Details Get a Quote |
| SERAC1 Knockout HCT 116 Cell Line | EDJ-KQ36272 | Human | 84947 | Details Get a Quote |
| SERAC1 Knockout A-549 Cell Line | EDJ-KQ37522 | Human | 84947 | Details Get a Quote |
| SERAC1 Knockout HeLa Cell Line | EDJ-KQ37523 | Human | 84947 | Details Get a Quote |
