AP1B1
Adaptor Related Protein Complex 1 Subunit Beta 1
Gene Information Card
| Symbol | AP1B1 |
|---|---|
| Full Name | Adaptor Related Protein Complex 1 Subunit Beta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 162 ncbi.nlm.nih.gov/gene/162 |
| Ensembl ID | ENSG00000100280 |
| UniProt ID | Q10567 |
| OMIM ID | 600157 |
| HGNC ID | 555 |
| Aliases | ADTB1, AP105B, BAM22, CLAPB2, DKFZp686M24264 |
Description
AP1B1 encodes the beta-1 subunit of the adaptor protein complex 1 (AP-1), which is involved in clathrin-mediated vesicle trafficking between the trans-Golgi network and endosomes. The protein is essential for sorting cargo proteins and maintaining cellular homeostasis. Mutations in AP1B1 are associated with neurodevelopmental disorders and immune deficiencies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| AP1B1-related neurodevelopmental disorder | Loss-of-function mutations impair AP-1 complex assembly, disrupting intracellular trafficking and neuronal function | ClinVar, OMIM |
| Immunodeficiency with susceptibility to infections | Defective AP-1-mediated trafficking affects immune cell receptor recycling and signaling | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 8.2 | Low expression |
| HepG2 | 7.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Premature stop, loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Frameshift, loss of function |
| c.890G>A (p.Arg297Gln) | Missense | Rare | Likely damaging, reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing AP-1 complex function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • clathrin adaptor activity | • intracellular protein transport |
| • vesicle-mediated transport | • Golgi to endosome transport |
| • protein binding |
Pathways
• Clathrin-mediated endocytosis
• AP-1 complex mediated transport
• Intracellular vesicle trafficking
Protein Summary
The AP1B1 protein is a 937-amino acid beta subunit of the AP-1 complex. It contains a trunk domain that interacts with cargo and clathrin, and a hinge domain that links to the appendage domain. The protein is ubiquitously expressed and critical for sorting transmembrane proteins at the trans-Golgi network and endosomes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP1B1 Knockout HEK293 Cell Line | EDJ-KQ11646 | Human | 162 | Details Get a Quote |
| AP1B1 Knockout A-549 Cell Line | EDJ-KQ41263 | Human | 162 | Details Get a Quote |
| AP1B1 Knockout HCT 116 Cell Line | EDJ-KQ41264 | Human | 162 | Details Get a Quote |
| AP1B1 Knockout HeLa Cell Line | EDJ-KQ41265 | Human | 162 | Details Get a Quote |
| AP1B1 Knockout Hep-G2 Cell Line | EDJ-KZ543 | Human | 162 | Details Get a Quote |
