ImmunoDeficiency Resource (IDR)

Names

HUGO name: AP3B1

Alias(es):

Localization

Reference sequences

Chromosomal location

Maps

Markers

Variations / Mutations

• AP3B1base; Mutation registry for Hermansky-Pudlak syndrome 2
• ; Mutation Database Mutations of the Adaptin b3a Gene (ADTB3A)

Other gene-based resources

Description

Protein function:

Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 that plays a role in protein sorting in the late-golgi/trans-golgi network (tgn) and/or endosomes. The ap complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Ap-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles.

Subunit:

Adaptor protein complex 3 (ap-3) is an heterotetramer composed of two large adaptins (delta/ap3d1 and beta3a/ap3b2 or beta3b/ap3b1), a medium adaptin (mu3a/ap3m1 or mu3b/ap3m2) and a small adaptin (sigma3a/ap3s1 or sigma3b/ap3s2).

Subcellular location:

Component of the coat surrounding the cytoplasmic face of coated vesicles located at the golgi complex.

Post-translational modification:

Phosphorylated on serine residues.

Tissue specificity:

Ubiquitously expressed.

Similarity:

Belongs to the adaptor complexes large subunit family.

Structures (PDB)

Domains

Glu/Ser-rich domain: 677-802

Other features

Other related resourses:

Expression pattern for human

Animal models

Mouse

Rat