Gene
si:ch73-173h19.3
- ID
- ZDB-GENE-081104-245
- Name
- si:ch73-173h19.3
- Symbol
- si:ch73-173h19.3 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity and epidermal growth factor-activated receptor activity. Predicted to be involved in epidermal growth factor receptor signaling pathway. Predicted to localize to collagen-containing extracellular matrix. Human ortholog(s) of this gene implicated in Doyne honeycomb retinal dystrophy. Orthologous to human EFEMP1 (EGF containing fibulin extracellular matrix protein 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- No data available
- 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
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
Domain | IPR000742 | EGF-like domain |
Domain | IPR001881 | EGF-like calcium-binding domain |
Domain | IPR026823 | Complement Clr-like EGF domain |
Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
Family | IPR050751 | Extracellular matrix structural protein |
Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
Protein | Length | Complement Clr-like EGF domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Extracellular matrix structural protein | Growth factor receptor cysteine-rich domain superfamily | NOTCH1 EGF-like calcium-binding domain |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A0R4IL08
|
397 | ||||||||
UniProtKB:A0A8M3AXY8
|
393 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
si:ch73-173h19.3-201
(1)
|
Ensembl | 1,194 nt | ||
mRNA |
si:ch73-173h19.3-202
(1)
|
Ensembl | 2,212 nt |
Interactions and Pathways
No data available
Plasmids
No data available