VCPKMT
Valosin-Containing Protein Lysine Methyltransferase
Gene Information Card
| Symbol | VCPKMT |
|---|---|
| Full Name | Valosin-Containing Protein Lysine Methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 126321 ncbi.nlm.nih.gov/gene/126321 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9H867 |
| OMIM ID | 617304 |
| HGNC ID | 26521 |
| Aliases | METTL21D, C14orf138, HSPC263 |
Description
VCPKMT (Valosin-Containing Protein Lysine Methyltransferase) is a protein-coding gene that encodes a methyltransferase enzyme responsible for the trimethylation of lysine 315 on valosin-containing protein (VCP/p97). This post-translational modification regulates VCP ATPase activity and its role in cellular processes such as protein degradation, endoplasmic reticulum-associated degradation (ERAD), and autophagy. The gene is located on chromosome 14q24.3 and is also known as METTL21D.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia (IBMPFD) | VCPKMT methylates VCP; dysregulation of VCP methylation may contribute to VCP-related protein aggregation and impaired autophagy | Indirect evidence from VCP mutation studies; no direct VCPKMT mutations reported in IBMPFD |
| Amyotrophic Lateral Sclerosis (ALS) | Altered VCP methylation may affect VCP function in protein clearance pathways, potentially linked to ALS pathogenesis | Indirect; VCP mutations are associated with ALS, but VCPKMT variants not yet confirmed |
| Cancer | VCPKMT expression changes may influence VCP activity in cell proliferation and survival pathways | Limited; expression data from COSMIC show somatic mutations in some cancers |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Heart | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.8 | Medium |
| Testis | 12.3 | High |
| Skeletal Muscle | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| K562 | 5.8 | Leukemia cells |
| HepG2 | 4.3 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | 0.01% (gnomAD) | Unknown; may affect methyltransferase activity |
| c.412C>T (p.Pro138Ser) | Missense | 0.005% (gnomAD) | Unknown; predicted benign |
| c.523A>G (p.Ile175Val) | Missense | 0.02% (gnomAD) | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Protein-lysine N-methyltransferase activity | • Methyltransferase activity |
| • Cytoplasm | • Nucleus |
| • Protein methylation | • Regulation of ATPase activity |
Pathways
• VCP/p97-mediated degradation
• Endoplasmic reticulum-associated degradation (ERAD)
• Autophagy
Protein Summary
VCPKMT is a 229-amino acid methyltransferase that specifically trimethylates lysine 315 of valosin-containing protein (VCP/p97). This modification enhances VCP ATPase activity and is essential for VCP-mediated cellular processes including ERAD, autophagy, and protein homeostasis. The protein is localized in the cytoplasm and nucleus, with highest expression in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VCPKMT Knockout HEK293 Cell Line | EDJ-KQ16094 | Human | 79609 | Details Get a Quote |
| VCPKMT Knockout A-549 Cell Line | EDJ-KQ47241 | Human | 79609 | Details Get a Quote |
| VCPKMT Knockout HCT 116 Cell Line | EDJ-KQ47242 | Human | 79609 | Details Get a Quote |
| VCPKMT Knockout HeLa Cell Line | EDJ-KQ47243 | Human | 79609 | Details Get a Quote |
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