MARCKS: Myristoylated Alanine-Rich C-Kinase Substrate
A key regulator of actin dynamics, cell motility, and protein kinase C signaling.
Gene Information Card
| Symbol | MARCKS |
|---|---|
| Full Name | Myristoylated Alanine-Rich C-Kinase Substrate |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 4082 ncbi.nlm.nih.gov/gene/4082 |
| Ensembl ID | ENSG00000197912 |
| UniProt ID | P29966 |
| OMIM ID | 177061 |
| HGNC ID | 6758 |
| Aliases | MACS, 80K-L, PKCSL, PRKCSL |
Description
MARCKS (Myristoylated Alanine-Rich C-Kinase Substrate) is a protein-coding gene that encodes a substrate for protein kinase C (PKC). The encoded protein is involved in cell adhesion, cell motility, phagocytosis, exocytosis, and regulation of the actin cytoskeleton. It is a major cellular substrate for PKC and is phosphorylated in response to various extracellular signals. MARCKS plays a critical role in brain development, synaptic plasticity, and immune cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | MARCKS mutations disrupt actin dynamics and neuronal migration, impairing cognitive function. | ClinVar; PMID: 27545680 |
| Schizophrenia | Altered MARCKS expression and phosphorylation affect synaptic signaling and dendritic spine morphology. | NCBI Gene; PMID: 20628056 |
| Alzheimer disease | MARCKS is involved in amyloid-beta-induced cytoskeletal changes and synaptic dysfunction. | UniProt; PMID: 15689449 |
| Cancer (various) | MARCKS overexpression or mislocalization promotes cell migration and invasion in glioblastoma, breast, and lung cancers. | COSMIC; PMID: 23563182 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 48.2 | High |
| Lung | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Testis | 8.3 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 62.4 | High expression; used in neuronal studies |
| HeLa (cervical carcinoma) | 28.7 | Moderate expression |
| A549 (lung carcinoma) | 15.3 | Moderate expression |
| MCF7 (breast carcinoma) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166His) | Missense | Rare | Altered PKC phosphorylation site; associated with intellectual disability |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression; likely pathogenic |
| c.112C>T (p.Arg38Trp) | Missense | Rare | Reduced actin-binding affinity; reported in neurodevelopmental disorders |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce MARCKS expression or disrupt its myristoylation or phosphorylation sites impair actin crosslinking and cell motility.
Gain of Function (GOF)
Not well documented; overexpression in cancers may confer gain-of-function in migration and invasion.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg166His) may interfere with wild-type MARCKS function in actin regulation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Protein kinase C (PKC) signaling pathway
• Actin cytoskeleton regulation
• Fc gamma R-mediated phagocytosis
• Chemokine signaling pathway
• Neurotrophin signaling pathway
Protein Summary
MARCKS is a 332-amino acid protein (UniProt P29966) that contains an N-terminal myristoylation motif and a basic effector domain (ED) that binds actin and calmodulin. It is a major PKC substrate; phosphorylation within the ED releases MARCKS from the plasma membrane and reduces actin crosslinking. The protein is highly expressed in brain and immune cells, where it regulates cell shape, adhesion, and migration. MARCKS also participates in exocytosis and synaptic vesicle cycling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARCKS Knockout HEK293 Cell Line | EDJ-KQ5157 | Human | 4082 | Details Get a Quote |
| MARCKSL1 Knockout HEK293 Cell Line | EDJ-KQ12042 | Human | 65108 | Details Get a Quote |
| MARCKS Knockout A-549 Cell Line | EDJ-KQ28135 | Human | 4082 | Details Get a Quote |
| MARCKS Knockout HCT 116 Cell Line | EDJ-KQ28136 | Human | 4082 | Details Get a Quote |
| MARCKS Knockout HeLa Cell Line | EDJ-KQ28137 | Human | 4082 | Details Get a Quote |
| MARCKSL1 Knockout HeLa Cell Line | EDJ-KQ39414 | Human | 65108 | Details Get a Quote |
| MARCKSL1 Knockout A-549 Cell Line | EDJ-KQ40673 | Human | 65108 | Details Get a Quote |
| MARCKSL1 Knockout HCT 116 Cell Line | EDJ-KQ40674 | Human | 65108 | Details Get a Quote |
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