AP1B1
Function
Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes (PubMed:31630791). 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.
Involvement in disease
Keratitis-ichthyosis-deafness syndrome, autosomal recessive
KIDAR
An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the adaptor complexes large subunit family.
Tissue Specificity
Widely expressed.
Cellular localization
- Golgi apparatus
- Cytoplasmic vesicle
- Clathrin-coated vesicle membrane
- Peripheral membrane protein
- Cytoplasmic side
- Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
Alternative names
ADTB1, BAM22, CLAPB2, AP1B1, AP-1 complex subunit beta-1, Adaptor protein complex AP-1 subunit beta-1, Adaptor-related protein complex 1 subunit beta-1, Beta-1-adaptin, Beta-adaptin 1, Clathrin assembly protein complex 1 beta large chain, Golgi adaptor HA1/AP1 adaptin beta subunit