Gene
efemp1
- ID
- ZDB-GENE-130403-1
- Name
- EGF containing fibulin extracellular matrix protein 1
- Symbol
- efemp1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Acts upstream of or within bone morphogenesis and cartilage development. Predicted to be located in extracellular region. Is expressed in brain; notochord; notochord inner cell; and pharyngeal arch. Used to study osteoarthritis. Human ortholog(s) of this gene implicated in Doyne honeycomb retinal dystrophy and cutis laxa. Orthologous to human EFEMP1 (EGF containing fibulin extracellular matrix protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Raman et al., 2023
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Raman et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Doyne honeycomb retinal dystrophy | Alliance | Doyne honeycomb degeneration of retina | 126600 |
| open-angle glaucoma | Alliance | Glaucoma 1, open angle, H | 611276 |
| Cutis laxa, autosomal recessive, type ID | 620780 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| osteoarthritis | efemp1ulg074/ulg074 (AB) | standard conditions | Raman et al., 2023 |
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 |
| Domain | IPR055088 | Fibulin, C-terminal Ig-like domain |
| Family | IPR052080 | von Willebrand factor C/EGF & Fibrillin |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Additional Resources | 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 | Fibulin, C-terminal Ig-like domain | Growth factor receptor cysteine-rich domain superfamily | NOTCH1 EGF-like calcium-binding domain | von Willebrand factor C/EGF & Fibrillin |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M6Z9P8 | InterPro | 444 | |||||||||
| UniProtKB:A0AB32T0U7 | InterPro | 506 | |||||||||
| UniProtKB:A0AB32T1R6 | InterPro | 387 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
efemp1-201
(1)
|
Ensembl | 842 nt |
Interactions and Pathways
No data available
Plasmids
No data available