Gene
ppfibp1b
- ID
- ZDB-GENE-060503-47
- Name
- PPFIA binding protein 1b
- Symbol
- ppfibp1b Nomenclature History
- Previous Names
-
- si:dkey-103i16.1
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to be involved in neuromuscular junction development. Predicted to localize to presynaptic active zone. Orthologous to human PPFIBP1 (PPFIA binding 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
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | 620024 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001660 | Sterile alpha motif domain |
| Domain | IPR037617 | Liprin-beta, SAM domain repeat 1 |
| Domain | IPR037618 | Liprin-beta, SAM domain repeat 2 |
| Domain | IPR037619 | Liprin-beta, SAM domain repeat 3 |
| Family | IPR029515 | LAR-interacting protein, Liprin |
| Homologous_superfamily | IPR013761 | Sterile alpha motif/pointed domain superfamily |
Domain Details Per Protein
| Protein | Length | LAR-interacting protein, Liprin | Liprin-beta, SAM domain repeat 1 | Liprin-beta, SAM domain repeat 2 | Liprin-beta, SAM domain repeat 3 | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q1LUM4
|
1013 | ||||||
|
UniProtKB:A0A8M3B2U3
|
962 | ||||||
|
UniProtKB:A0A8M9PFH0
|
982 | ||||||
|
UniProtKB:A0A8M9PQ97
|
973 | ||||||
|
UniProtKB:A0A2R8QNZ1
|
993 | ||||||
|
UniProtKB:B7ZVC4
|
951 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available