Gene
kng1
- ID
- ZDB-GENE-041010-56
- Name
- kininogen 1
- Symbol
- kng1 Nomenclature History
- Previous Names
-
- fb64g01
- wu:fb64g01 (1)
- zgc:103569
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable cysteine-type endopeptidase inhibitor activity. Acts upstream of or within cranial skeletal system development. Predicted to be active in extracellular region. Is expressed in liver. Human ortholog(s) of this gene implicated in hereditary angioedema and high molecular weight kininogen deficiency. Orthologous to human KNG1 (kininogen 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103569 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Jacox et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| high molecular weight kininogen deficiency | Alliance | [High molecular weight kininogen deficiency] | 228960 |
| high molecular weight kininogen deficiency | Alliance | [Kininogen deficiency] | 228960 |
| Angioedema, hereditary, 6 | 619363 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cystatin domain | Cystatin superfamily | Kininogen/Fetuin/Histidine-rich Glycoprotein | Kininogen-type cystatin domain |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BIB3
|
332 | ||||
|
UniProtKB:Q5XJ76
|
331 |
Interactions and Pathways
No data available
Plasmids
No data available