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

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

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ppfibp1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities	620024

Associated With ppfibp1a Via Experimental Models

No data available

Gene Ontology

Protein Domains

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