Gene

reps1

ID

ZDB-GENE-030131-9536

Name

RALBP1 associated Eps domain containing 1

Symbol

reps1 Nomenclature History

Previous Names

si:dkey-217m5.1
wu:fj85c06

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Predicted to enable calcium ion binding activity. Predicted to be involved in endocytosis and endosomal transport. Predicted to act upstream of or within receptor-mediated endocytosis. Predicted to be active in cytoplasm and plasma membrane. Human ortholog(s) of this gene implicated in neurodegeneration with brain iron accumulation. Orthologous to human REPS1 (RALBP1 associated Eps domain containing 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

Daniocell

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 reps1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		?Neurodegeneration with brain iron accumulation 7	617916

Associated With reps1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR018247	EF-Hand 1, calcium-binding site
Domain	IPR000261	EH domain
Domain	IPR002048	EF-hand domain
Homologous_superfamily	IPR011992	EF-hand domain pair