Gene

hace1

ID

ZDB-GENE-110411-52

Name

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

Symbol

hace1 Nomenclature History

Previous Names

si:ch73-97e20.2

Type

protein_coding_gene

Location

Chr: 16 Mapping Details/Browsers

Description

Predicted to enable small GTPase binding activity and ubiquitin protein ligase activity. Acts upstream of or within heart development and negative regulation of reactive oxygen species biosynthetic process. Predicted to be located in Golgi membrane. Predicted to be active in cytoplasm and nucleus. Is expressed in brain; heart; and pronephros. Orthologous to human HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Daugaard et al., 2013

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: 4 figures from Razaghi et al., 2017
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With hace1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Spastic paraplegia and psychomotor retardation with or without seizures	616756

Associated With hace1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000569	HECT domain
Family	IPR050409	E3 ubiquitin-protein ligase
Homologous_superfamily	IPR035983	HECT, E3 ligase catalytic domain
Homologous_superfamily	IPR036770	Ankyrin repeat-containing domain superfamily
Repeat	IPR002110	Ankyrin repeat