Gene
mfrp
- ID
- ZDB-GENE-160728-150
- Name
- membrane frizzled-related protein
- Symbol
- mfrp Nomenclature History
- Previous Names
-
- si:cabz01033205.3 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Involved in eye development. Predicted to localize to integral component of membrane. Used to study hyperopia and microphthalmia. Human ortholog(s) of this gene implicated in isolated microphthalmia 5; late-onset retinal degeneration; microphthalmia; nanophthalmos; and retinitis pigmentosa. Is expressed in ciliated epithelial cell and retinal pigmented epithelium. Orthologous to several human genes including C1QTNF5 (C1q and TNF related 5).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Collery et al., 2016
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Collery et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
isolated microphthalmia 5 | Alliance | Microphthalmia, isolated 5 | 611040 |
nanophthalmos | Alliance | Nanophthalmos 2 | 609549 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
microphthalmia | mfrpmw78/mw78 | standard conditions | Collery et al., 2016 |
hyperopia | mfrpmw78/mw78 | standard conditions | Collery et al., 2016 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR023415 | Low-density lipoprotein (LDL) receptor class A, conserved site |
Domain | IPR000859 | CUB domain |
Domain | IPR020067 | Frizzled domain |
Homologous_superfamily | IPR035914 | Spermadhesin, CUB domain superfamily |
Homologous_superfamily | IPR036055 | LDL receptor-like superfamily |
Homologous_superfamily | IPR036790 | Frizzled cysteine-rich domain superfamily |
Repeat | IPR002172 | Low-density lipoprotein (LDL) receptor class A repeat |
Domain Details Per Protein
Protein | Length | CUB domain | Frizzled cysteine-rich domain superfamily | Frizzled domain | LDL receptor-like superfamily | Low-density lipoprotein (LDL) receptor class A, conserved site | Low-density lipoprotein (LDL) receptor class A repeat | Spermadhesin, CUB domain superfamily |
---|---|---|---|---|---|---|---|---|
UniProtKB:F1QRG7
|
572 | |||||||
UniProtKB:A0A8M3B0L4
|
311 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
si:cabz01033205.3-201
(1)
|
Ensembl | 2,389 nt |
Interactions and Pathways
No data available
Plasmids
No data available