InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KIAA0226

Summary

InnateDB Protein

IDBP-71733.7

Last Modified

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

Gene Symbol

KIAA0226

Protein Name

KIAA0226

Synonyms

RUBICON; SCAR15;

Species

Homo sapiens

Ensembl Protein

ENSP00000273582

InnateDB Gene

IDBG-71731 (KIAA0226)

Protein Structure

UniProt Annotation

Function

Negatively regulates endocytic trafficking. Impairs the autophagosome maturation process. May inhibit PIK3C3 activity (By similarity). {ECO:0000250}.

Subcellular Localization

Late endosome {ECO:0000269PubMed:19270696}. Lysosome {ECO:0000269PubMed:19270696}. Early endosome {ECO:0000269PubMed:19270696}. Note=Predominantly located in late endosomes/lysosomes, only partially detected in early endososome and not at all in the Golgi apparatus.

Disease Associations

Spinocerebellar ataxia, autosomal recessive, 15 (SCAR15) [MIM:615705]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR15 patients manifest cerebellar ataxia in early childhood and delayed motor development with delayed walking. Additional features include dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia. {ECO:0000269PubMed:20826435}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	30 [view]
Protein-Protein	30 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0006897	endocytosis
GO:0006914	autophagy
GO:0010507	negative regulation of autophagy
GO:0045087	innate immune response (InnateDB)
GO:0045806	negative regulation of endocytosis