ZFIN is now using GRCz12tu for Genomic Data
Gene
fsd1l
- ID
- ZDB-GENE-070501-9
- Name
- fibronectin type III and SPRY domain containing 1 like
- Symbol
- fsd1l Nomenclature History
- Previous Names
-
- sb:eu990
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Is expressed in otic vesicle. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment and retinitis pigmentosa. Orthologous to human FSD1L (fibronectin type III and SPRY domain containing 1 like).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu990 (4 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment | Alliance | Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment | 621643 |
| Retinitis pigmentosa 109 | 621656 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001870 | B30.2/SPRY domain |
| Domain | IPR003649 | B-box, C-terminal |
| Domain | IPR003877 | SPRY domain |
| Domain | IPR003879 | Butyrophylin-like, SPRY domain |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR017903 | COS domain |
| Domain | IPR035742 | Fibronectin type III and SPRY containing 1, PRY/SPRY domain |
| Family | IPR050617 | E3 ubiquitin-protein ligases and FN3/SPRY domain-containing proteins |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR043136 | B30.2/SPRY domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | B30.2/SPRY domain | B30.2/SPRY domain superfamily | B-box, C-terminal | Butyrophylin-like, SPRY domain | Concanavalin A-like lectin/glucanase domain superfamily | COS domain | E3 ubiquitin-protein ligases and FN3/SPRY domain-containing proteins | Fibronectin type III | Fibronectin type III and SPRY containing 1, PRY/SPRY domain | Fibronectin type III superfamily | Immunoglobulin-like fold | SPRY domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BFY7 | InterPro | 530 | ||||||||||||
| UniProtKB:A0A8M9P927 | InterPro | 476 | ||||||||||||
| UniProtKB:A0A8M3BA30 | InterPro | 529 | ||||||||||||
| UniProtKB:A0A8M9PK71 | InterPro | 465 | ||||||||||||
| UniProtKB:A0A8M9PR76 | InterPro | 461 | ||||||||||||
| UniProtKB:A0A8M9PZ93 | InterPro | 518 | ||||||||||||
| UniProtKB:A0A8M9PLN4 | InterPro | 519 | ||||||||||||
| UniProtKB:A0A8M9Q1V1 | InterPro | 367 | ||||||||||||
| UniProtKB:A0A8M9PYH3 | InterPro | 477 | ||||||||||||
| UniProtKB:A0A8M9Q512 | InterPro | 420 | ||||||||||||
| UniProtKB:A0A8M2BFZ8 | InterPro | 518 | ||||||||||||
| UniProtKB:A0A8M9Q9Y0 | InterPro | 529 | ||||||||||||
| UniProtKB:A0A8M1PUU5 | InterPro | 519 | ||||||||||||
| UniProtKB:A0A8M9PEX5 | InterPro | 420 | ||||||||||||
| UniProtKB:A0A8M9QEZ5 | InterPro | 530 | ||||||||||||
| UniProtKB:A0AB13A7C6 | InterPro | 530 | ||||||||||||
| UniProtKB:A0AC58JGS1 | InterPro | 409 | ||||||||||||
| UniProtKB:A0AC58JGS5 | InterPro | 420 | ||||||||||||
| UniProtKB:A0AC58JGS9 | InterPro | 408 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers