protein
AP-1 complex subunit gamma-1
Gene
AP1G1
Organism
Homo sapiens(9606)
Length
822 aa
Mass
91,351 Da
AP-1 complex subunit gamma-1 (AP1G1) is a subunit of the clathrin-associated adaptor protein complex 1, which mediates protein sorting and clathrin recruitment to membranes (UniProt: O43747). The protein recognizes cargo sorting signals and plays a key role in trafficking between the trans-Golgi network and endosomes, including the trafficking of transferrin, furin, and cathepsin D.
AP1G1 is expressed in neural tissues and mutations in AP1G1 cause Usmani-Riazuddin syndrome, both autosomal dominant and recessive forms (UniProt: O43747). These neurodevelopmental disorders present with global developmental delay, intellectual disability, speech delay, hypotonia, and behavioral abnormalities, with variable seizures and limb anomalies.
In Alzheimer's disease, AP1G1 shows ambiguous regulation across subcellular fractions of post-mortem AD brain tissue (Chaparral AD proteomics), with a mean log2 fold-change of −0.30 relative to age-matched controls. This subtle, fraction-dependent pattern suggests context-dependent changes in protein trafficking machinery in AD pathology.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
⚠ Ambiguous — detected in AD samples, direction unclear across fractionsP3
+0.350
P2
not detected
S2
-0.949
S3
not detected
Mean log₂FC across detected fractions: -0.2992 (2 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772
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)
Disease associations
Usmani-Riazuddin syndrome, autosomal dominantUSRISD
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.
Usmani-Riazuddin syndrome, autosomal recessiveUSRISR
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.
Sources
Last updated 5/8/2026, 6:32:35 AM