InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AAGAB

Summary

InnateDB Protein

IDBP-18474.5

Last Modified

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

Gene Symbol

AAGAB

Protein Name

alpha- and gamma-adaptin binding protein

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000261880

InnateDB Gene

IDBG-18472 (AAGAB)

Protein Structure

UniProt Annotation

Function

May be involved in endocytic recycling of growth factor receptors such as EGFR. {ECO:0000269PubMed:23064416}.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000269PubMed:23000146, ECO:0000269PubMed:23064416}.

Disease Associations

Keratoderma, palmoplantar, punctate 1A (PPKP1A) [MIM:148600]: An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma. {ECO:0000269PubMed:23000146, ECO:0000269PubMed:23064416}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus. {ECO:0000269PubMed:23000146, ECO:0000269PubMed:23064416}.

Comments

Interactions

Number of Interactions

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