MNAT1: CDK-activating kinase assembly factor
Essential regulator of cell cycle and transcription via CAK complex
Gene Information Card
| Symbol | MNAT1 |
|---|---|
| Full Name | MNAT1 component of CDK-activating kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 14q23.1 |
| NCBI Gene ID | 4331 ncbi.nlm.nih.gov/gene/4331 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | P51948 |
| OMIM ID | 602659 |
| HGNC ID | 7182 |
| Aliases | MAT1, RING finger protein 66, RNF66, CDK7 assembly factor |
Description
MNAT1 encodes a protein that is a component of the CDK-activating kinase (CAK) complex, which also includes CDK7 and cyclin H. CAK phosphorylates cyclin-dependent kinases (CDKs) to regulate cell cycle progression and also phosphorylates the C-terminal domain of RNA polymerase II to regulate transcription. MNAT1 stabilizes the CAK complex and is essential for its assembly and activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of CAK complex leads to aberrant CDK activation and uncontrolled cell proliferation | COSMIC; literature |
| Microcephaly (rare) | Biallelic loss-of-function mutations in MNAT1 impair CAK activity, affecting neural progenitor cell division | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK293 | 13.2 | Embryonic kidney cells |
| K562 | 11.8 | Leukemia cell line |
| MCF7 | 10.1 | Breast cancer cell line |
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.347C>T (p.Thr116Ile) | missense | <0.01% | Unknown significance |
| c.622G>A (p.Gly208Arg) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause microcephaly; reduced CAK activity impairs cell cycle progression.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell Cycle (Reactome: R-HSA-1640170)
• CDK-mediated phosphorylation and removal of Cdc6 (Reactome: R-HSA-69017)
• RNA Polymerase II Transcription (Reactome: R-HSA-75955)
Protein Summary
MNAT1 (also known as MAT1) is a 309-amino acid protein containing a RING finger domain. It serves as an assembly factor for the CDK-activating kinase (CAK) complex, binding CDK7 and cyclin H. The CAK complex phosphorylates CDKs (e.g., CDK1, CDK2, CDK4, CDK6) to activate them for cell cycle progression, and also phosphorylates the C-terminal domain of RNA polymerase II to facilitate transcription initiation. MNAT1 is essential for CAK stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MNAT1 Knockout HEK293 Cell Line | EDJ-KQ50444 | Human | 4331 | Details Get a Quote |
| MNAT1 Knockout HeLa Cell Line | EDJ-KQ53891 | Human | 4331 | Details Get a Quote |
| MNAT1 Knockout A-549 Cell Line | EDJ-KQ62383 | Human | 4331 | Details Get a Quote |
| MNAT1 Knockout HCT 116 Cell Line | EDJ-KQ70852 | Human | 4331 | Details Get a Quote |
