NIPAL3: NIPA-Like Domain Containing 3
A magnesium transporter family member with potential roles in cellular ion homeostasis and cancer
Gene Information Card
| Symbol | NIPAL3 |
|---|---|
| Full Name | NIPA-Like Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 57185 ncbi.nlm.nih.gov/gene/57185 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q6P4R8 |
| OMIM ID | 609902 |
| HGNC ID | 25922 |
| Aliases | NIPA3, FLJ20489 |
Description
NIPAL3 (NIPA-Like Domain Containing 3) is a protein-coding gene that belongs to the NIPA family of magnesium transporters. The encoded protein contains a conserved NIPA domain and is predicted to function in magnesium ion transport across membranes. NIPAL3 is widely expressed in various tissues and has been implicated in cellular ion homeostasis. Alterations in NIPAL3 expression have been observed in certain cancers, suggesting a potential role in tumor biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may disrupt magnesium homeostasis, affecting cell proliferation and survival. | NCBI Gene, COSMIC |
| Colorectal cancer | Downregulation observed in tumor tissues; potential tumor suppressor role. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Liver | 8.2 | Low |
| Heart | 7.5 | Low |
| Lung | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 12.1 | Moderate expression |
| A549 | 9.8 | Low expression |
| MCF7 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Ile) | Missense | <0.1% | Unknown functional impact |
| c.205G>A (p.Gly69Ser) | Missense | <0.1% | Unknown functional impact |
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 evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • magnesium ion transmembrane transporter activity | • integral component of membrane |
| • magnesium ion transport |
Pathways
• Magnesium transport
Protein Summary
The NIPAL3 protein is a 370-amino acid multi-pass membrane protein containing a conserved NIPA domain. It is predicted to function as a magnesium transporter, facilitating the movement of magnesium ions across cellular membranes. The protein is localized to the plasma membrane and possibly intracellular membranes. Its exact physiological role remains under investigation, but it is thought to contribute to magnesium homeostasis, which is critical for numerous cellular processes including enzyme function, nucleic acid synthesis, and cell cycle regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NIPAL3 Knockout HEK293 Cell Line | EDJ-KQ14426 | Human | 57185 | Details Get a Quote |
| NIPAL3 Knockout A-549 Cell Line | EDJ-KQ44637 | Human | 57185 | Details Get a Quote |
| NIPAL3 Knockout HeLa Cell Line | EDJ-KQ44638 | Human | 57185 | Details Get a Quote |
| NIPAL3 Knockout HCT 116 Cell Line | EDJ-KQ43378 | Human | 57185 | Details Get a Quote |
