MACF1 Gene - Microtubule Actin Crosslinking Factor 1
A key regulator of cytoskeletal dynamics, cell migration, and neuronal development
Gene Information Card
| Symbol | MACF1 |
|---|---|
| Full Name | Microtubule Actin Crosslinking Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 23499 ncbi.nlm.nih.gov/gene/23499 |
| Ensembl ID | ENSG00000127616 |
| UniProt ID | Q9UPN3 |
| OMIM ID | 608271 |
| HGNC ID | 13664 |
| Aliases | ABP620, ACF7, LIS9, MACF, OFD4 |
Description
MACF1 encodes a large protein that crosslinks actin filaments and microtubules, playing a critical role in cytoskeletal organization, cell migration, and neuronal development. Mutations in MACF1 are associated with lissencephaly and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lissencephaly 9 (LIS9) | Loss-of-function mutations disrupt microtubule-actin crosslinking, impairing neuronal migration | OMIM #618325 |
| Orofaciodigital syndrome IV (OFD4) | Missense variants affect ciliary function and cell polarity | OMIM #258860 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Liver | 4.2 | Low |
| Kidney | 5.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuronal) | 15.2 | High expression in neuronal lineage |
| HeLa (cervical) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 6.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.4567G>A (p.Gly1523Arg) | Missense | Rare | Altered actin-binding domain; dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein; associated with lissencephaly
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Missense mutations in actin-binding domain may interfere with wild-type function
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • actin binding |
| • cytoskeletal protein binding | • cell migration |
| • neuron projection development |
Pathways
• Regulation of actin cytoskeleton
• Microtubule cytoskeleton organization
• Neuronal migration pathway
Protein Summary
MACF1 is a large (approximately 800 kDa) protein that contains calponin homology domains, spectrin repeats, and a GAR domain. It crosslinks actin filaments and microtubules, essential for cell polarity, migration, and ciliary function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MACF1 Knockout HEK293 Cell Line | EDJ-KQ1991 | Human | 23499 | Details Get a Quote |
| MACF1 Knockout A-549 Cell Line | EDJ-KQ21987 | Human | 23499 | Details Get a Quote |
| MACF1 Knockout HCT 116 Cell Line | EDJ-KQ21988 | Human | 23499 | Details Get a Quote |
| MACF1 Knockout HeLa Cell Line | EDJ-KQ21989 | Human | 23499 | Details Get a Quote |
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