MARK1: Microtubule Affinity Regulating Kinase 1
A key regulator of microtubule dynamics and neuronal polarity
Gene Information Card
| Symbol | MARK1 |
|---|---|
| Full Name | microtubule affinity regulating kinase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.12 |
| NCBI Gene ID | 4139 ncbi.nlm.nih.gov/gene/4139 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q9P0L2 |
| OMIM ID | 606495 |
| HGNC ID | 6896 |
| Aliases | MARK, PAR-1, PAR1, MARK1_HUMAN |
Description
MARK1 (microtubule affinity regulating kinase 1) encodes a serine/threonine protein kinase that phosphorylates microtubule-associated proteins (MAPs) such as tau, MAP2, and MAP4, leading to their detachment from microtubules and promoting microtubule dynamics. It is involved in cell polarity, cell cycle progression, and neuronal differentiation. The gene is located on chromosome 1q42.12 and is widely expressed, with highest levels in brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | MARK1 phosphorylates tau at sites that promote tau aggregation and neurofibrillary tangle formation, a hallmark of Alzheimer pathology. | PMID: 10944108, 15314168 |
| Breast cancer | MARK1 overexpression is associated with poor prognosis; it may promote cell migration and invasion via microtubule destabilization. | PMID: 22664982, 23382219 |
| Prostate cancer | MARK1 is upregulated in prostate cancer and may contribute to androgen-independent growth. | PMID: 24755471 |
| Colorectal cancer | MARK1 expression is altered in colorectal tumors and may influence metastasis. | PMID: 25605251 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 23.5 | High |
| Testis | 18.2 | High |
| Lung | 8.7 | Medium |
| Liver | 5.1 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney, high expression |
| HeLa | 9.8 | Cervical cancer, moderate |
| SH-SY5Y | 15.1 | Neuroblastoma, high expression |
| MCF7 | 7.2 | Breast cancer, moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | missense | 0.0004 | Unknown; rare variant reported in ClinVar |
| c.1456G>A (p.Glu486Lys) | missense | 0.0002 | Unknown; rare variant reported in ClinVar |
| c.1742C>T (p.Thr581Met) | missense | 0.0001 | Unknown; rare variant reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in MARK1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MARK1.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in MARK1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa05010
• Alzheimer disease
• hsa04110
• Cell cycle
• hsa04530
• Tight junction
• hsa04810
• Regulation of actin cytoskeleton
• hsa05166
• Human T-cell leukemia virus 1 infection
Protein Summary
MARK1 is a 795-amino acid serine/threonine kinase (UniProt Q9P0L2) that belongs to the AMPK-related kinase family. It contains an N-terminal kinase domain, a ubiquitin-associated (UBA) domain, and a C-terminal KA1 domain. The kinase phosphorylates the KXGS motifs in the microtubule-binding domain of tau and other MAPs, reducing their affinity for microtubules and promoting microtubule dynamics. MARK1 is critical for establishing and maintaining cell polarity, particularly in neurons, and is implicated in tauopathies and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARK1 Knockout HEK293 Cell Line | EDJ-KQ5178 | Human | 4139 | Details Get a Quote |
| MARK1 Knockout HCT 116 Cell Line | EDJ-KQ28164 | Human | 4139 | Details Get a Quote |
| MARK1 Knockout HeLa Cell Line | EDJ-KQ28165 | Human | 4139 | Details Get a Quote |
| MARK1 Knockout A-549 Cell Line | EDJ-KQ62326 | Human | 4139 | Details Get a Quote |
