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 have serine-type endopeptidase activity. Predicted to be involved in peptide hormone processing. Predicted to localize to extracellular space; membrane; and neuron projection. Human ortholog(s) of this gene implicated in obesity and proprotein convertase 1/3 deficiency. Is expressed in several structures, including digestive system; heart; integument; nervous system; and pleuroperitoneal region. 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