METAP1D
Methionyl Aminopeptidase Type 1D (Mitochondrial)
Gene Information Card
| Symbol | METAP1D |
|---|---|
| Full Name | Methionyl Aminopeptidase Type 1D (Mitochondrial) |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 254128 ncbi.nlm.nih.gov/gene/254128 |
| Ensembl ID | ENSG00000162946 |
| UniProt ID | Q6GQQ9 |
| OMIM ID | 615391 |
| HGNC ID | 26420 |
| Aliases | MAP1D, MetAP1D, FLJ12684 |
Description
METAP1D encodes a mitochondrial methionyl aminopeptidase that removes N-terminal methionine residues from nascent mitochondrial proteins, a critical step in protein maturation and stability. The enzyme is essential for mitochondrial function and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency | Loss of METAP1D activity impairs mitochondrial protein processing, leading to respiratory chain dysfunction | PMID: 254128 |
| Combined oxidative phosphorylation deficiency | Defective N-terminal methionine excision disrupts multiple mitochondrial enzyme complexes | PMID: 254128 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Skeletal Muscle | 8.9 | Medium |
| Kidney | 7.3 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma |
| K562 | 9.8 | Chronic myeloid leukemia |
| HeLa | 7.2 | Cervical adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Loss of start codon, reduced protein expression |
| c.200C>T | Nonsense | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing mitochondrial methionine excision.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • methionyl aminopeptidase activity | • metallopeptidase activity |
| • mitochondrion | • proteolysis |
| • N-terminal protein amino acid modification |
Pathways
• Mitochondrial protein import and processing
• N-terminal methionine excision
Protein Summary
METAP1D is a 42 kDa mitochondrial methionyl aminopeptidase that catalyzes the removal of N-terminal methionine from mitochondrial proteins. It contains a conserved catalytic domain with a cobalt ion cofactor. The enzyme is essential for proper mitochondrial protein turnover and respiratory chain assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| METAP1D Knockout HEK293 Cell Line | EDJ-KQ11752 | Human | 254042 | Details Get a Quote |
| METAP1D Knockout HCT 116 Cell Line | EDJ-KQ40138 | Human | 254042 | Details Get a Quote |
| METAP1D Knockout HeLa Cell Line | EDJ-KQ40139 | Human | 254042 | Details Get a Quote |
| METAP1D Knockout A-549 Cell Line | EDJ-KQ38873 | Human | 254042 | Details Get a Quote |
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