ZFIN is now using GRCz12tu for Genomic Data
Gene
ppfibp1a
- ID
- ZDB-GENE-041210-298
- Name
- PPFIA binding protein 1a
- Symbol
- ppfibp1a Nomenclature History
- Previous Names
-
- si:dkey-207j16.2
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be involved in neuromuscular junction development. Predicted to be located in cytosol. Predicted to be active in 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
Domain Details Per Protein
| Protein | Additional Resources | Length | Liprin-beta-1/2, coiled-coil domain | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily |
|---|---|---|---|---|---|
| UniProtKB:Q5RG05 | InterPro | 781 | |||
| UniProtKB:A0A0J9YJ57 | InterPro | 880 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ppfibp1a-201
(1)
|
Ensembl | 2,498 nt | ||
| mRNA |
ppfibp1a-202
(1)
|
Ensembl | 3,223 nt | ||
| mRNA |
ppfibp1a-203
(1)
|
Ensembl | 4,918 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers