NIPAL1: NIPA-Like Domain Containing 1
A magnesium transporter gene with potential roles in neurodevelopment and cancer
Gene Information Card
| Symbol | NIPAL1 |
|---|---|
| Full Name | NIPA-Like Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 152816 ncbi.nlm.nih.gov/gene/152816 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q6NVV1 |
| OMIM ID | 614489 |
| HGNC ID | 25938 |
| Aliases | NIPA3, FLJ20489 |
Description
NIPAL1 (NIPA-Like Domain Containing 1) is a protein-coding gene that encodes a magnesium transporter. It belongs to the NIPA family of magnesium transporters, which are involved in magnesium homeostasis. The gene is located on chromosome 4q12 and is expressed in various tissues, with notable expression in the brain and kidney. NIPAL1 has been implicated in neurodevelopmental processes and cancer, though its precise physiological roles are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect magnesium homeostasis and cell proliferation | COSMIC |
| Neurodevelopmental disorders | Potential role in magnesium transport in neurons | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 10.3 | Medium |
| Testis | 8.7 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 11.8 | Neuroblastoma cell line |
| A549 | 7.5 | Lung cancer cell line |
| HepG2 | 5.3 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Unknown functional effect |
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)
| • Magnesium ion transmembrane transporter activity | • Magnesium ion transport |
| • Integral component of membrane |
Pathways
• Magnesium transport
Protein Summary
The NIPAL1 protein is a transmembrane magnesium transporter, localized to the cell membrane. It facilitates the uptake of magnesium ions into cells, contributing to magnesium homeostasis. The protein contains a conserved NIPA domain and is predicted to have multiple transmembrane helices. Its expression in the brain and kidney suggests roles in neuronal function and renal magnesium handling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NIPAL1 Knockout HEK293 Cell Line | EDJ-KQ11408 | Human | 152519 | Details Get a Quote |
| NIPAL1 Knockout HCT 116 Cell Line | EDJ-KQ38299 | Human | 152519 | Details Get a Quote |
| NIPAL1 Knockout A-549 Cell Line | EDJ-KQ39629 | Human | 152519 | Details Get a Quote |
| NIPAL1 Knockout HeLa Cell Line | EDJ-KQ39631 | Human | 152519 | Details Get a Quote |
