AP1G1
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. 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. In association with AFTPH/aftiphilin in the aftiphilin/p200/gamma-synergin complex, involved in the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025).
Involvement in disease
Usmani-Riazuddin syndrome, autosomal dominant
USRISD
A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities. More variable additional features may include seizures and distal limb anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
Usmani-Riazuddin syndrome, autosomal recessive
USRISR
A neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, spasticity, and behavioral abnormalities. More variable additional features may include seizures, scoliosis, and joint laxity.
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
- Cytoplasm
- Cytoplasm
- Perinuclear region
- Cytoplasmic vesicle
- Clathrin-coated vesicle
- Membrane
- Clathrin-coated pit
- Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex (PubMed:12773381). Co-localizes with AFTPH/aftiphilin in the cytoplasm (PubMed:15758025).
Alternative names
ADTG, CLAPG1, AP1G1, AP-1 complex subunit gamma-1, Adaptor protein complex AP-1 subunit gamma-1, Adaptor-related protein complex 1 subunit gamma-1, Clathrin assembly protein complex 1 gamma-1 large chain, Gamma1-adaptin, Golgi adaptor HA1/AP1 adaptin subunit gamma-1