protein
AP-1 complex subunit beta-1
Gene
AP1B1
Organism
Homo sapiens(9606)
Length
949 aa
Mass
104,607 Da
AP-1 complex subunit beta-1 (AP1B1) is a component of the clathrin-associated adaptor protein complex 1, which mediates protein sorting and clathrin recruitment at the trans-Golgi network and endosomes (UniProt: Q10567). The protein recognizes sorting signals in transmembrane cargo molecules, coordinating membrane trafficking and cargo selection.
AP1B1 is primarily known for its role in vesicular transport pathways. In the UniProt record, a genetic association with autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR; MIM 242150) is documented, characterized by skin lesions, vascularizing keratitis, and progressive hearing loss (UniProt: Q10567).
Regarding Alzheimer's disease, AP1B1 was detected in post-mortem AD brain proteomics across multiple subcellular fractions (Chaparral AD proteomics). However, the direction of regulation is ambiguous, with a mean log2 fold-change of 0.10 relative to age-matched controls. This minimal change across fractions suggests no consistent upregulation or downregulation in AD brain tissue.
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
+0.658
P2
not detected
S2
-0.458
S3
not detected
Mean log₂FC across detected fractions: +0.1001 (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 (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
Disease associations
Keratitis-ichthyosis-deafness syndrome, autosomal recessiveKIDAR
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.
Sources
Last updated 5/8/2026, 6:32:54 AM