PM20D1
Peptidase M20 Domain Containing 1
Gene Information Card
| Symbol | PM20D1 |
|---|---|
| Full Name | Peptidase M20 Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 148811 ncbi.nlm.nih.gov/gene/148811 |
| Ensembl ID | ENSG00000162877 |
| UniProt ID | Q6P1M0 |
| OMIM ID | 615903 |
| HGNC ID | 21023 |
| Aliases | M20D1, FLJ22662 |
Description
PM20D1 encodes a member of the M20 peptidase family, characterized by a conserved M20 domain. The enzyme catalyzes the condensation of primary amines with fatty acids to form N-acyl amino acids, and also exhibits hydrolase activity. It is involved in thermogenesis and energy metabolism, particularly in brown adipose tissue.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered N-acyl amino acid metabolism affecting energy expenditure | PMID: 25686604 |
| Type 2 Diabetes | Potential role in insulin sensitivity via lipid signaling | PMID: 25686604 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HepG2 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.0004 | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | 0.0002 | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008237 (GO:0008237) | • GO:0016787 (GO:0016787) |
| • GO:0042802 (GO:0042802) | • GO:0005737 (GO:0005737) |
Pathways
• N-acyl amino acid metabolism
• Thermogenesis
Protein Summary
PM20D1 is a 42 kDa protein containing a peptidase M20 domain. It catalyzes the reversible condensation of fatty acids with amino acids to produce N-acyl amino acids, which act as signaling molecules in energy homeostasis. The protein is localized in the cytoplasm and is highly expressed in brown adipose tissue.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PM20D1 Knockout HEK293 Cell Line | EDJ-KQ10845 | Human | 148811 | Details Get a Quote |
| PM20D1 Knockout HeLa Cell Line | EDJ-KQ58614 | Human | 148811 | Details Get a Quote |
| PM20D1 Knockout A-549 Cell Line | EDJ-KQ67095 | Human | 148811 | Details Get a Quote |
| PM20D1 Knockout HCT 116 Cell Line | EDJ-KQ75505 | Human | 148811 | Details Get a Quote |
