EIF3M
Eukaryotic Translation Initiation Factor 3 Subunit M
Gene Information Card
| Symbol | EIF3M |
|---|---|
| Full Name | eukaryotic translation initiation factor 3 subunit M |
| Gene Type | protein-coding |
| Chromosomal Location | 11p13 |
| NCBI Gene ID | 10480 ncbi.nlm.nih.gov/gene/10480 |
| Ensembl ID | ENSG00000149196 |
| UniProt ID | Q7L2H7 |
| OMIM ID | 609641 |
| HGNC ID | 17367 |
| Aliases | GA17, hfl-B5, PCID1, eIF3m |
Description
EIF3M encodes a subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is essential for translation initiation. The eIF3 complex binds to the 40S ribosomal subunit and promotes the formation of the 43S pre-initiation complex. EIF3M is involved in regulating protein synthesis and has been implicated in various cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of translation initiation via eIF3 complex alterations | COSMIC; multiple studies |
| Colorectal cancer | Overexpression of EIF3M promotes cell proliferation | PubMed; COSMIC |
| Breast cancer | Altered expression linked to tumor progression | PubMed; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line |
| HEK293 | 14.7 | Embryonic kidney cell line |
| A549 | 11.2 | Lung cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | Rare | Unknown functional impact |
| c.100C>T | missense | Rare | Unknown functional impact |
| c.200_201del | frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of eIF3 complex integrity.
Gain of Function (GOF)
Not well characterized; overexpression in cancer may act as a gain-of-function.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data:
Gene Ontology (GO)
| • translation initiation factor activity | • ribosome binding |
| • cytoplasm | • eIF3 complex |
| • protein binding |
Pathways
• Eukaryotic translation initiation
• PI3K-Akt signaling pathway
• mTOR signaling pathway
Protein Summary
EIF3M is a 42 kDa protein that forms part of the eIF3 complex. It contains a PCI domain and is involved in stabilizing the eIF3 complex and promoting translation initiation. The protein is ubiquitously expressed with higher levels in testis and lymphoid tissues.
Related Services
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|---|---|---|---|---|
| No Data | ||||