AP1M1
Adaptor Related Protein Complex 1 Subunit Mu 1
Gene Information Card
| Symbol | AP1M1 |
|---|---|
| Full Name | Adaptor Related Protein Complex 1 Subunit Mu 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 8905 ncbi.nlm.nih.gov/gene/8905 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9BXS5 |
| OMIM ID | 603533 |
| HGNC ID | 558 |
| Aliases | AP-1 complex subunit mu-1, mu1A, AP1M1A, CLTCL2 |
Description
AP1M1 encodes the mu1 subunit of the heterotetrameric adaptor protein complex 1 (AP-1). AP-1 is involved in clathrin-dependent trafficking between the trans-Golgi network and endosomes. The mu1 subunit recognizes tyrosine-based sorting signals within the cytoplasmic tails of transmembrane cargo proteins, facilitating their incorporation into clathrin-coated vesicles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia | Loss-of-function mutations in AP1M1 impair endosomal trafficking, leading to axonal degeneration | PMID: 32707086 |
| Intellectual disability | Disruption of AP-1 mediated cargo sorting affects neuronal development and synaptic function | PMID: 32707086 |
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 | High expression |
| HeLa | 11.5 | Moderate expression |
| SH-SY5Y | 13.2 | High expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.113G>A (p.Arg38Gln) | missense | <0.01% | Impaired cargo recognition, associated with spastic paraplegia |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that disrupt the mu1 domain or protein stability lead to loss of AP-1 function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Heterozygous mutations may exert dominant-negative effects by incorporating mutant mu1 into AP-1 complexes.
View complete mutation data：
Gene Ontology (GO)
| • clathrin adaptor activity | • intracellular protein transport |
| • vesicle-mediated transport | • protein localization to endosome |
Pathways
• Clathrin-mediated endocytosis
• Trans-Golgi network to endosome transport
Protein Summary
AP1M1 encodes the mu1A subunit of the AP-1 complex. This 423-amino acid protein contains a longin domain and a mu homology domain that binds tyrosine-based sorting signals. It is ubiquitously expressed and essential for proper intracellular trafficking. Mutations are linked to neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP1M1 Knockout HEK293 Cell Line | EDJ-KQ6392 | Human | 8907 | Details Get a Quote |
| AP1M1 Knockout HCT 116 Cell Line | EDJ-KQ29088 | Human | 8907 | Details Get a Quote |
| AP1M1 Knockout A-549 Cell Line | EDJ-KQ30415 | Human | 8907 | Details Get a Quote |
| AP1M1 Knockout HeLa Cell Line | EDJ-KQ30417 | Human | 8907 | Details Get a Quote |
