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 enable calcium ion binding activity and epidermal growth factor receptor activity. Predicted to act upstream of or within epidermal growth factor receptor signaling pathway. Predicted to be located in 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