NIPAL1

Chr 4

NIPA like domain containing 1

Also known as: NIPA3, NPAL1, SLC57A3

NCBI Gene: 152519ENSG00000163293UniProt: Q6NVV3OMIM: 620340

Predicted to enable magnesium ion transmembrane transporter activity. Predicted to be involved in magnesium ion transport. Predicted to be located in Golgi apparatus. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.50
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.50LOEUF
pLI 0.000
Z-score 0.09
OE 0.98 (0.65–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.68Z-score
OE missense 0.87 (0.77–0.98)
179 obs / 206.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.98 (0.65–1.50)
0≤0.351.4
Missense OE?0.87 (0.77–0.98)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 15 / 15.4Missense obs/exp: 179 / 206.4Syn Z: 0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NIPAL1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients