Gene
pcsk1
- ID
- ZDB-GENE-071009-1
- Name
- proprotein convertase subtilisin/kexin type 1
- Symbol
- pcsk1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable serine-type endopeptidase activity. Predicted to be involved in protein processing. Predicted to act upstream of or within proteolysis. Predicted to be located in transport vesicle. Predicted to be active in membrane and neuron projection. Is expressed in several structures, including digestive system; heart; integument; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in obesity and proprotein convertase 1/3 deficiency. Orthologous to human PCSK1 (proprotein convertase subtilisin/kexin type 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- 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 |
|---|---|---|---|
| proprotein convertase 1/3 deficiency | Alliance | Endocrinopathy due to proprotein convertase 1/3 deficiency | 600955 |
| {Obesity, susceptibility to, BMIQ12} | 612362 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR022398 | Peptidase S8, subtilisin, His-active site |
| Active_site | IPR023827 | Peptidase S8, subtilisin, Asp-active site |
| Active_site | IPR023828 | Peptidase S8, subtilisin, Ser-active site |
| Domain | IPR000209 | Peptidase S8/S53 domain |
| Domain | IPR002884 | P domain |
| Domain | IPR022005 | Prohormone convertase enzyme |
| Domain | IPR032815 | Peptidase S8, pro-domain |
| Domain | IPR034182 | Kexin/furin catalytic domain |
| Family | IPR015500 | Peptidase S8, subtilisin-related |
| Homologous_superfamily | IPR008979 | Galactose-binding-like domain superfamily |
| Homologous_superfamily | IPR036852 | Peptidase S8/S53 domain superfamily |
| Homologous_superfamily | IPR038466 | Peptidase S8, pro-domain superfamily |
Domain Details Per Protein
| Protein | Length | Galactose-binding-like domain superfamily | Kexin/furin catalytic domain | P domain | Peptidase S8, pro-domain | Peptidase S8, pro-domain superfamily | Peptidase S8/S53 domain | Peptidase S8/S53 domain superfamily | Peptidase S8, subtilisin, Asp-active site | Peptidase S8, subtilisin, His-active site | Peptidase S8, subtilisin-related | Peptidase S8, subtilisin, Ser-active site | Prohormone convertase enzyme |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B6VCA1
|
755 | ||||||||||||
|
UniProtKB:E9QIE6
|
754 |
Interactions and Pathways
No data available
Plasmids
No data available