Entity Details

Primary name AAGAB_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6PD74
EntryNameAAGAB_HUMAN
FullNameAlpha- and gamma-adaptin-binding protein p34
TaxID9606
Evidenceevidence at protein level
Length315
SequenceStatuscomplete
DateCreated2005-03-29
DateModified2021-06-02

Ontological Relatives

GenesAAGAB

GO terms

Show/Hide Table
GOName
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0015031 protein transport
GO:0016607 nuclear speck

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm

Domains

Show/Hide Table
DomainNameCategoryType
IPR019341 Alpha/gamma-adaptin-binding protein p34FamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
148600 OMIMKeratoderma, palmoplantar, punctate 1A (PPKP1A)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. The disease is caused by variants affecting the gene represented in this entry.