Gene
prss12
- ID
- ZDB-GENE-090313-45
- Name
- serine protease 12
- Symbol
- prss12 Nomenclature History
- Previous Names
-
- si:ch211-152j23.2
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Predicted to act upstream of or within proteolysis. Predicted to be located in membrane. Predicted to be active in several cellular components, including dendrite; synaptic cleft; and terminal bouton. Is expressed in hypural. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 1 and intellectual disability. Orthologous to human PRSS12 (serine protease 12).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Anderson et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 intellectual developmental disorder 1 | Alliance | Intellectual developmental disorder, autosomal recessive 1 | 249500 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR033116 | Serine proteases, trypsin family, serine active site |
| Conserved_site | IPR018056 | Kringle, conserved site |
| Domain | IPR000001 | Kringle |
| Domain | IPR001190 | SRCR domain |
| Domain | IPR001254 | Serine proteases, trypsin domain |
| Family | IPR001314 | Peptidase S1A, chymotrypsin family |
| Homologous_superfamily | IPR009003 | Peptidase S1, PA clan |
| Homologous_superfamily | IPR013806 | Kringle-like fold |
| Homologous_superfamily | IPR036772 | SRCR-like domain superfamily |
| Homologous_superfamily | IPR038178 | Kringle superfamily |
| Homologous_superfamily | IPR043504 | Peptidase S1, PA clan, chymotrypsin-like fold |
Domain Details Per Protein
| Protein | Additional Resources | Length | Kringle | Kringle, conserved site | Kringle-like fold | Kringle superfamily | Peptidase S1A, chymotrypsin family | Peptidase S1, PA clan | Peptidase S1, PA clan, chymotrypsin-like fold | Serine proteases, trypsin domain | Serine proteases, trypsin family, serine active site | SRCR domain | SRCR-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1QHD3 | InterPro | 818 | |||||||||||
| UniProtKB:A0A8M9PPR7 | InterPro | 818 | |||||||||||
| UniProtKB:A0A8M9Q8F7 | InterPro | 660 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
prss12-201
(1)
|
Ensembl | 2,451 nt | ||
| mRNA |
prss12-202
(1)
|
Ensembl | 5,200 nt |
Interactions and Pathways
No data available
Plasmids
No data available