AMZ1: Archaelysin Family Metallopeptidase 1
A metalloprotease with potential roles in protein degradation and cellular homeostasis.
Gene Information Card
| Symbol | AMZ1 |
|---|---|
| Full Name | Archaelysin family metallopeptidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 155185 ncbi.nlm.nih.gov/gene/155185 |
| Ensembl ID | ENSG00000174600 |
| UniProt ID | Q5VVZ0 |
| OMIM ID | 616717 |
| HGNC ID | 26018 |
| Aliases | FLJ22635, MGC138290 |
Description
AMZ1 encodes a member of the archaelysin family of metallopeptidases. The protein contains a zinc-binding motif and is predicted to function as a protease involved in protein turnover and cellular quality control. It is localized to the cytoplasm and may participate in the degradation of misfolded or damaged proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 4.5 | Low |
| Liver | 3.1 | Low |
| Kidney | 2.8 | Low |
| Heart | 1.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.0 | Moderate expression |
| HeLa | 4.5 | Low expression |
| K562 | 3.2 | Low expression |
| A549 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown significance |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
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)
| • metallopeptidase activity | • zinc ion binding |
| • proteolysis | • cytoplasm |
Pathways
• No specific pathways annotated
Protein Summary
AMZ1 is a 374-amino acid metallopeptidase with a conserved zinc-binding motif (HEXXH). It is predicted to cleave peptide bonds in target proteins, potentially contributing to proteostasis. The protein is widely expressed at low levels, with highest abundance in testis. Its precise biological substrates and physiological roles remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMZ1 Knockout HEK293 Cell Line | EDJ-KQ12343 | Human | 155185 | Details Get a Quote |
| AMZ1 Knockout HeLa Cell Line | EDJ-KQ58754 | Human | 155185 | Details Get a Quote |
| AMZ1 Knockout A-549 Cell Line | EDJ-KQ67239 | Human | 155185 | Details Get a Quote |
| AMZ1 Knockout HCT 116 Cell Line | EDJ-KQ75636 | Human | 155185 | Details Get a Quote |
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