MAPK1IP1L Gene - Mitogen-Activated Protein Kinase 1 Interacting Protein 1 Like
Comprehensive genomic and functional overview of MAPK1IP1L
Gene Information Card
| Symbol | MAPK1IP1L |
|---|---|
| Full Name | Mitogen-Activated Protein Kinase 1 Interacting Protein 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.3 |
| NCBI Gene ID | 93487 ncbi.nlm.nih.gov/gene/93487 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N4C8 |
| OMIM ID | 620448 |
| HGNC ID | 28967 |
| Aliases | MIR1, C14orf32, MAPK1IP1L |
Description
MAPK1IP1L (Mitogen-Activated Protein Kinase 1 Interacting Protein 1 Like) is a protein-coding gene located on chromosome 14q22.3. It encodes a protein that interacts with MAPK1 (ERK2) and may play a role in MAP kinase signaling pathways. The gene is also known as MIR1 and C14orf32.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Low |
| Brain | 5.1 | Low |
| Lung | 3.4 | Low |
| Liver | 2.1 | Not detected |
| Heart | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Low expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Synonymous | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • MAPK cascade (GO:0000165) |
Pathways
• MAPK signaling pathway (Reactome: R-HSA-5683057)
Protein Summary
The MAPK1IP1L protein is a 244-amino acid polypeptide that interacts with mitogen-activated protein kinase 1 (MAPK1/ERK2). It is predicted to be involved in the regulation of MAP kinase signaling, though its precise biological function remains incompletely characterized. Expression is low in most tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAPK1IP1L Knockout HEK293 Cell Line | EDJ-KQ11235 | Human | 93487 | Details Get a Quote |
| MAPK1IP1L Knockout A-549 Cell Line | EDJ-KQ39317 | Human | 93487 | Details Get a Quote |
| MAPK1IP1L Knockout HCT 116 Cell Line | EDJ-KQ39318 | Human | 93487 | Details Get a Quote |
| MAPK1IP1L Knockout HeLa Cell Line | EDJ-KQ39319 | Human | 93487 | Details Get a Quote |
