InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EXPH5

Summary

InnateDB Protein

IDBP-70505.6

Last Modified

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

Gene Symbol

EXPH5

Protein Name

exophilin 5

Synonyms

SLAC2-B; SLAC2B;

Species

Homo sapiens

Ensembl Protein

ENSP00000265843

InnateDB Gene

IDBG-70503 (EXPH5)

Protein Structure

UniProt Annotation

Function

May act as Rab effector protein and play a role in vesicle trafficking.

Subcellular Localization

Disease Associations

Epidermolysis bullosa, non-specific, autosomal recessive (EBNS) [MIM:615028]: A skin disease characterized by blistering of skin and mucosae, following minimal pressure or trauma. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. EBNS clinical features mainly comprise trauma- induced scale crusts and intermittent skin blistering. Some of the crusted areas are hemorrhagic and accompanied by occasional bruising. Most lesions clear over several weeks to leave slightly atrophic scars and moderate post-inflammatory hyperpigmentation. {ECO:0000269PubMed:23176819}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in keratinocytes. {ECO:0000269PubMed:23176819}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0017137	Rab GTPase binding

Biological Process

GO:0003334	keratinocyte development
GO:0006886	intracellular protein transport
GO:0045921	positive regulation of exocytosis
GO:0050714	positive regulation of protein secretion
GO:0071985	multivesicular body sorting pathway