ZFIN is now using GRCz12tu for Genomic Data
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
- 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. Human ortholog(s) of this gene implicated in epilepsy. Orthologous to human PPFIBP1 (PPFIB scaffold 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-1/2, SAM domain 1 |
| Domain | IPR037618 | Liprin-beta-1/2, SAM domain 2 |
| Domain | IPR037619 | Liprin-beta-1/2, SAM domain 3 |
| Domain | IPR058914 | Liprin-beta-1/2, coiled-coil domain |
| Family | IPR029515 | Liprin |
| Homologous_superfamily | IPR013761 | Sterile alpha motif/pointed domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Liprin | Liprin-beta-1/2, coiled-coil domain | Liprin-beta-1/2, SAM domain 1 | Liprin-beta-1/2, SAM domain 2 | Liprin-beta-1/2, SAM domain 3 | Sterile alpha motif domain | Sterile alpha motif/pointed domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q1LUM4 | InterPro | 1013 | |||||||
| UniProtKB:A0A8M3B2U3 | InterPro | 962 | |||||||
| UniProtKB:A0A8M9PFH0 | InterPro | 982 | |||||||
| UniProtKB:A0A8M9PQ97 | InterPro | 973 | |||||||
| UniProtKB:A0A2R8QNZ1 | InterPro | 993 | |||||||
| UniProtKB:B7ZVC4 | InterPro | 951 | |||||||
| UniProtKB:A0AC58HTK9 | InterPro | 942 | |||||||
| UniProtKB:A0AC58HTL6 | InterPro | 931 | |||||||
| UniProtKB:A0AC58HTL9 | InterPro | 962 | |||||||
| UniProtKB:A0AC58HTM1 | InterPro | 993 | |||||||
| UniProtKB:A0ACD6B5C1 | InterPro | 951 | |||||||
| UniProtKB:A0ACD6B7X8 | InterPro | 993 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ppfibp1b-201
(1)
|
Ensembl | 2,962 nt | ||
| mRNA |
ppfibp1b-202
(1)
|
Ensembl | 960 nt | ||
| mRNA |
ppfibp1b-203
(1)
|
Ensembl | 4,086 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers