MAP1A: Microtubule-Associated Protein 1A
Key regulator of microtubule dynamics in neuronal development and cytoskeletal organization
Gene Information Card
| Symbol | MAP1A |
|---|---|
| Full Name | Microtubule-Associated Protein 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 15q15.3 |
| NCBI Gene ID | 4130 ncbi.nlm.nih.gov/gene/4130 |
| Ensembl ID | ENSG00000166963 |
| UniProt ID | P78559 |
| OMIM ID | 600178 |
| HGNC ID | 6836 |
| Aliases | MAP1A, MTAP1A, MAP-1A |
Description
The MAP1A gene encodes microtubule-associated protein 1A, a structural protein that stabilizes microtubules and promotes neurite outgrowth. It is predominantly expressed in the nervous system and plays a critical role in neuronal morphogenesis, axonal transport, and synaptic plasticity. MAP1A interacts with microtubules and other cytoskeletal elements to regulate dynamic instability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal muscular atrophy (SMA) | Potential dysregulation of MAP1A expression may affect motor neuron survival and axonal integrity. | Limited evidence; expression changes observed in SMA models (NCBI Gene) |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Altered MAP1A levels may contribute to tau pathology and microtubule destabilization. | Observational studies; not yet validated in large cohorts (OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 32.5 | High |
| Spinal cord | 18.2 | Medium |
| Testis | 5.1 | Low |
| Heart | 2.3 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.0 | Neuronal model; high expression |
| U-87 MG (glioblastoma) | 22.3 | Glial cell line; moderate expression |
| HEK293 (embryonic kidney) | 3.1 | Low expression; non-neuronal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | Rare | Unknown functional effect; not associated with disease in ClinVar |
| c.2567_2568del (p.Val856fs) | Frameshift | Very rare | Predicted loss of function; no clinical significance reported |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Val856fs) are predicted to cause premature truncation and loss of microtubule-binding domains.
Gain of Function (GOF)
No gain-of-function mutations reported for MAP1A.
Dominant Negative (DN)
No dominant-negative mutations characterized for MAP1A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Microtubule cytoskeleton regulation (Reactome: R-HSA-190840)
• Axon guidance (KEGG: hsa04360)
• Neurotrophin signaling pathway (KEGG: hsa04722)
Protein Summary
Microtubule-associated protein 1A (MAP1A) is a 2,802-amino-acid protein that binds to and stabilizes microtubules. It contains an N-terminal microtubule-binding domain and a C-terminal projection domain that interacts with other cytoskeletal components. MAP1A is highly expressed in neurons and is essential for dendritic and axonal development. Post-translational modifications include phosphorylation, which modulates its affinity for microtubules.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP1A Knockout HEK293 Cell Line | EDJ-KQ5171 | Human | 4130 | Details Get a Quote |
| CIMAP1A Knockout HEK293 Cell Line | EDJ-KQ7431 | Human | 113746 | Details Get a Quote |
| MAP1A Knockout HCT 116 Cell Line | EDJ-KQ28154 | Human | 4130 | Details Get a Quote |
| MAP1A Knockout HeLa Cell Line | EDJ-KQ28155 | Human | 4130 | Details Get a Quote |
| CIMAP1A Knockout HeLa Cell Line | EDJ-KQ57910 | Human | 113746 | Details Get a Quote |
| MAP1A Knockout A-549 Cell Line | EDJ-KQ62325 | Human | 4130 | Details Get a Quote |
| CIMAP1A Knockout A-549 Cell Line | EDJ-KQ66401 | Human | 113746 | Details Get a Quote |
| CIMAP1A Knockout HCT 116 Cell Line | EDJ-KQ74827 | Human | 113746 | Details Get a Quote |
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