MPPED1
Metallophosphoesterase Domain Containing 1
Gene Information Card
| Symbol | MPPED1 |
|---|---|
| Full Name | Metallophosphoesterase Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 758 ncbi.nlm.nih.gov/gene/758 |
| Ensembl ID | ENSG00000100220 |
| UniProt ID | Q9BUP3 |
| OMIM ID | 609486 |
| HGNC ID | 7209 |
| Aliases | C22orf2, FLJ20186, MPPED1 |
Description
MPPED1 (Metallophosphoesterase Domain Containing 1) is a protein-coding gene located on chromosome 22q13.33. It encodes a member of the metallophosphoesterase family, which are enzymes that hydrolyze phosphoester bonds. The protein is involved in cellular signaling and metabolism, though its specific biological functions are still under investigation. MPPED1 is expressed in various tissues and has been implicated in certain cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect cell proliferation and signaling pathways | COSMIC database reports mutations in multiple cancer types |
| Neurodevelopmental disorders | Potential role in neuronal signaling; mutations may disrupt phosphoesterase activity | ClinVar and literature associations |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Kidney | 8.5 | Low |
| Liver | 6.3 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown functional impact |
| c.512A>G (p.Asn171Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may reduce enzyme activity.
Gain of Function (GOF)
No evidence currently.
Dominant Negative (DN)
No evidence currently.
View complete mutation data：
Gene Ontology (GO)
| • metallophosphoesterase activity | • hydrolase activity |
| • metal ion binding | • cytoplasm |
Pathways
• Phosphatidylinositol signaling system
• Metabolic pathways
Protein Summary
MPPED1 is a 374-amino acid protein containing a metallophosphoesterase domain. It is predicted to function as a phosphoesterase, potentially involved in dephosphorylating substrates in cellular signaling. The protein is localized in the cytoplasm and is expressed in multiple tissues, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPPED1 Knockout HEK293 Cell Line | EDJ-KQ4170 | Human | 758 | Details Get a Quote |
| MPPED1 Knockout HeLa Cell Line | EDJ-KQ52760 | Human | 758 | Details Get a Quote |
| MPPED1 Knockout A-549 Cell Line | EDJ-KQ61230 | Human | 758 | Details Get a Quote |
| MPPED1 Knockout HCT 116 Cell Line | EDJ-KQ69728 | Human | 758 | Details Get a Quote |
