InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HACE1

Summary

InnateDB Protein

IDBP-94754.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HACE1

Protein Name

HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000262903

InnateDB Gene

IDBG-94750 (HACE1)

Protein Structure

UniProt Annotation

Function

E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB. {ECO:0000269PubMed:15254018, ECO:0000269PubMed:21988917, ECO:0000269PubMed:22036506}.

Subcellular Localization

Golgi apparatus, Golgi stack membrane. Cytoplasm. Endoplasmic reticulum. Note=A significant portion localizes to the endoplasmic reticulum. Targeted to Golgi membrane via its interaction with Rab proteins.

Disease Associations

Note=Defects in HACE1 are a cause of Wilms tumor (WT). WT is a pediatric malignancy of kidney and one of the most common solid cancers in childhood. HACE1 is epigenetically down-regulated in sporadic Wilms tumor. Moreover, a t(5;6)(q21;q21) translocation that truncates HACE1 has been found in a child with bilateral, young-onset Wilms tumor.

Tissue Specificity

Expressed in multiple tissues including heart, brain and kidney. {ECO:0000269PubMed:15254018}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 56 experimentally validated interaction(s) in this database.

Experimentally validated
Total	56 [view]
Protein-Protein	56 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding
GO:0016874	ligase activity
GO:0017137	Rab GTPase binding
GO:0048365	Rac GTPase binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007030	Golgi organization
GO:0007049	cell cycle
GO:0016567	protein ubiquitination
GO:0016601	Rac protein signal transduction
GO:0030334	regulation of cell migration
GO:0042787	protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:0061025	membrane fusion
GO:0070936	protein K48-linked ubiquitination