MPC1L: Mitochondrial Pyruvate Carrier 1 Like
A gene encoding a mitochondrial pyruvate carrier-like protein with potential roles in metabolic regulation.
Gene Information Card
| Symbol | MPC1L |
|---|---|
| Full Name | Mitochondrial Pyruvate Carrier 1 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 100129361 ncbi.nlm.nih.gov/gene/100129361 |
| Ensembl ID | ENSG00000203710 |
| UniProt ID | A6NKD9 |
| OMIM ID | 619876 |
| HGNC ID | 37237 |
| Aliases | BRP44L, C1orf54, HSPC040 |
Description
MPC1L (Mitochondrial Pyruvate Carrier 1 Like) is a protein-coding gene located on chromosome 1p36.33. It encodes a protein that is similar to the mitochondrial pyruvate carrier 1 (MPC1) and is predicted to be involved in mitochondrial pyruvate transport. The gene is expressed in various tissues and may play a role in metabolic processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.8 | Low |
| Brain | 3.2 | Low |
| Heart | 2.1 | Low |
| Liver | 1.5 | Not detected |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 4.5 | Low expression |
| HeLa | 3.0 | Low expression |
| K562 | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial pyruvate transmembrane transport | • mitochondrion |
| • pyruvate transmembrane transporter activity |
Pathways
• Pyruvate metabolism
• Mitochondrial pyruvate transport
Protein Summary
The MPC1L protein is a predicted mitochondrial pyruvate carrier-like protein. It shares sequence similarity with MPC1 and is thought to localize to the mitochondrial inner membrane, potentially facilitating pyruvate import. Its exact physiological function remains to be fully characterized, but it may contribute to metabolic homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPC1L Knockout HEK293 Cell Line | EDJ-KQ14292 | Human | 347411 | Details Get a Quote |
| MPC1L Knockout HeLa Cell Line | EDJ-KQ59812 | Human | 347411 | Details Get a Quote |
| MPC1L Knockout A-549 Cell Line | EDJ-KQ68281 | Human | 347411 | Details Get a Quote |
| MPC1L Knockout HCT 116 Cell Line | EDJ-KQ76655 | Human | 347411 | Details Get a Quote |
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