Gene
pitrm1
- ID
- ZDB-GENE-040426-2876
- Name
- pitrilysin metallopeptidase 1
- Symbol
- pitrm1 Nomenclature History
- Previous Names
-
- wu:fa03d09
- zgc:55469 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable metalloendopeptidase activity. Predicted to be involved in protein processing. Predicted to be located in mitochondrion. Predicted to be active in mitochondrial matrix. Human ortholog(s) of this gene implicated in autosomal recessive cerebellar ataxia. Orthologous to human PITRM1 (pitrilysin metallopeptidase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55469 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive spinocerebellar ataxia 30 | Alliance | Spinocerebellar ataxia, autosomal recessive 30 | 619405 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Metalloenzyme, LuxS/M16 peptidase-like | Peptidase M16C associated | Peptidase M16, C-terminal | Peptidase M16, N-terminal | Presequence protease, mitochondrial-type, C-terminal domain |
|---|---|---|---|---|---|---|
|
UniProtKB:Q7ZVZ6
|
1023 | |||||
|
UniProtKB:B2GRL2
|
1023 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pitrm1-201
(1)
|
Ensembl | 3,535 nt | ||
| mRNA |
pitrm1-202
(1)
|
Ensembl | 1,067 nt | ||
| ncRNA |
pitrm1-002
(1)
|
Ensembl | 3,535 nt |
Interactions and Pathways
No data available
Plasmids